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Mark J. Daly - Publications

Affiliations: 
The Broad Institute of MIT and Harvard, Cambridge, MA, United States 
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500 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2024 Elliott A, Walters RK, Pirinen M, Kurki M, Junna N, Goldstein JI, Reeve MP, Siirtola H, Lemmelä SM, Turley P, Lahtela E, Mehtonen J, Reis K, Elnahas AG, Reigo A, ... ... Daly MJ, et al. Distinct and shared genetic architectures of gestational diabetes mellitus and type 2 diabetes. Nature Genetics. PMID 38182742 DOI: 10.1038/s41588-023-01607-4  0.319
2023 Chen CY, Chen TT, Feng YA, Yu M, Lin SC, Longchamps RJ, Wang SH, Hsu YH, Yang HI, Kuo PH, Daly MJ, Chen WJ, Huang H, Ge T, Lin YF. Analysis across Taiwan Biobank, Biobank Japan, and UK Biobank identifies hundreds of novel loci for 36 quantitative traits. Cell Genomics. 3: 100436. PMID 38116116 DOI: 10.1016/j.xgen.2023.100436  0.357
2023 Skitchenko R, Modrusan Z, Loboda A, Kopp JB, Winkler CA, Sergushichev A, Gupta N, Stevens C, Daly MJ, Shaw A, Artomov M. variants contribute to FSGS susceptibility across multiple populations. Medrxiv : the Preprint Server For Health Sciences. PMID 38076851 DOI: 10.1101/2023.11.20.23298462  0.351
2023 Guo MH, Francioli LC, Stenton SL, Goodrich JK, Watts NA, Singer-Berk M, Groopman E, Darnowsky PW, Solomonson M, Baxter S, Tiao G, Neale BM, Hirschhorn JN, Rehm HL, Daly MJ, et al. Inferring compound heterozygosity from large-scale exome sequencing data. Nature Genetics. PMID 38057443 DOI: 10.1038/s41588-023-01608-3  0.312
2023 Kang JB, Shen AZ, Gurajala S, Nathan A, Rumker L, Aguiar VRC, Valencia C, Lagattuta KA, Zhang F, Jonsson AH, Yazar S, Alquicira-Hernandez J, Khalili H, Ananthakrishnan AN, Jagadeesh K, ... ... Daly MJ, et al. Mapping the dynamic genetic regulatory architecture of HLA genes at single-cell resolution. Nature Genetics. PMID 38036787 DOI: 10.1038/s41588-023-01586-6  0.533
2023 Oddsson A, Sulem P, Sveinbjornsson G, Arnadottir GA, Steinthorsdottir V, Halldorsson GH, Atlason BA, Oskarsson GR, Helgason H, Nielsen HS, Westergaard D, Karjalainen JM, Katrinardottir H, Fridriksdottir R, Jensson BO, ... ... Daly M, et al. Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality. Nature Communications. 14: 3453. PMID 37301908 DOI: 10.1038/s41467-023-38951-2  0.32
2023 Atkinson EG, Artomov M, Loboda AA, Rehm HL, MacArthur DG, Karczewski KJ, Neale B, Daly MJ. Discordant calls across genotype discovery approaches elucidate variants with systematic errors. Genome Research. PMID 37253541 DOI: 10.1101/gr.277908.123  0.306
2023 Liu Z, Liu R, Gao H, Jung S, Gao X, Sun R, Liu X, Kim Y, Lee HS, Kawai Y, Nagasaki M, Umeno J, Tokunaga K, Kinouchi Y, Masamune A, ... ... Daly MJ, et al. Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries. Nature Genetics. PMID 37156999 DOI: 10.1038/s41588-023-01384-0  0.325
2023 Wu Y, Gettler K, Kars ME, Giri M, Li D, Bayrak CS, Zhang P, Jain A, Maffucci P, Sabic K, Van Vleck T, Nadkarni G, Denson LA, Ostrer H, Levine AP, ... ... Daly MJ, et al. Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients. Nature Communications. 14: 2256. PMID 37080976 DOI: 10.1038/s41467-023-37849-3  0.336
2023 Kang JB, Shen AZ, Sakaue S, Luo Y, Gurajala S, Nathan A, Rumker L, Aguiar VRC, Valencia C, Lagattuta K, Zhang F, Jonsson AH, Yazar S, Alquicira-Hernandez J, Khalili H, ... ... Daly MJ, et al. Mapping the dynamic genetic regulatory architecture of genes at single-cell resolution. Medrxiv : the Preprint Server For Health Sciences. PMID 36993194 DOI: 10.1101/2023.03.14.23287257  0.545
2023 Liu D, Meyer D, Fennessy B, Feng C, Cheng E, Johnson JS, Park YJ, Rieder MK, Ascolillo S, de Pins A, Dobbyn A, Lebovitch D, Moya E, Nguyen TH, Wilkins L, ... ... Daly M, et al. Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations. Nature Genetics. 55: 369-376. PMID 36914870 DOI: 10.1038/s41588-023-01305-1  0.344
2023 Kurki MI, Karjalainen J, Palta P, Sipilä TP, Kristiansson K, Donner KM, Reeve MP, Laivuori H, Aavikko M, Kaunisto MA, Loukola A, Lahtela E, Mattsson H, Laiho P, Della Briotta Parolo P, ... ... Daly MJ, et al. Author Correction: FinnGen provides genetic insights from a well-phenotyped isolated population. Nature. PMID 36829046 DOI: 10.1038/s41586-023-05837-8  0.67
2023 Yuan K, Longchamps RJ, Pardiñas AF, Yu M, Chen TT, Lin SC, Chen Y, Lam M, Liu R, Xia Y, Guo Z, Shi W, Shen C, Daly MJ, Neale B, et al. Fine-mapping across diverse ancestries drives the discovery of putative causal variants underlying human complex traits and diseases. Medrxiv : the Preprint Server For Health Sciences. PMID 36711496 DOI: 10.1101/2023.01.07.23284293  0.343
2023 Kurki MI, Karjalainen J, Palta P, Sipilä TP, Kristiansson K, Donner KM, Reeve MP, Laivuori H, Aavikko M, Kaunisto MA, Loukola A, Lahtela E, Mattsson H, Laiho P, Della Briotta Parolo P, ... ... Daly MJ, et al. FinnGen provides genetic insights from a well-phenotyped isolated population. Nature. 613: 508-518. PMID 36653562 DOI: 10.1038/s41586-022-05473-8  0.739
2023 Saarentaus EC, Karjalainen J, Rämö JT, Kiiskinen T, Havulinna AS, Mehtonen J, Hautakangas H, Ruotsalainen S, Tamlander M, Mars N, Toppila-Salmi S, Pirinen M, Kurki M, Ripatti S, Daly M, et al. Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation. Nature Communications. 14: 83. PMID 36653354 DOI: 10.1038/s41467-022-33626-w  0.309
2023 Rämö JT, Kiiskinen T, Seist R, Krebs K, Kanai M, Karjalainen J, Kurki M, Hämäläinen E, Häppölä P, Havulinna AS, Hautakangas H, Mägi R, Palta P, Esko T, Metspalu A, ... ... Daly MJ, et al. Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure. Nature Communications. 14: 157. PMID 36653343 DOI: 10.1038/s41467-022-32936-3  0.357
2022 Karczewski KJ, Solomonson M, Chao KR, Goodrich JK, Tiao G, Lu W, Riley-Gillis BM, Tsai EA, Kim HI, Zheng X, Rahimov F, Esmaeeli S, Grundstad AJ, Reppell M, Waring J, ... ... Daly MJ, et al. Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes. Cell Genomics. 2: 100168. PMID 36778668 DOI: 10.1016/j.xgen.2022.100168  0.751
2022 Zhou W, Kanai M, Wu KH, Rasheed H, Tsuo K, Hirbo JB, Wang Y, Bhattacharya A, Zhao H, Namba S, Surakka I, Wolford BN, Lo Faro V, Lopera-Maya EA, Läll K, ... ... Daly MJ, et al. Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease. Cell Genomics. 2: 100192. PMID 36777996 DOI: 10.1016/j.xgen.2022.100192  0.363
2022 Dey R, Zhou W, Kiiskinen T, Havulinna A, Elliott A, Karjalainen J, Kurki M, Qin A, Lee S, Palotie A, Neale B, Daly M, Lin X. Efficient and accurate frailty model approach for genome-wide survival association analysis in large-scale biobanks. Nature Communications. 13: 5437. PMID 36114182 DOI: 10.1038/s41467-022-32885-x  0.357
2022 Sazonovs A, Stevens CR, Venkataraman GR, Yuan K, Avila B, Abreu MT, Ahmad T, Allez M, Ananthakrishnan AN, Atzmon G, Baras A, Barrett JC, Barzilai N, Beaugerie L, Beecham A, ... ... Daly MJ, et al. Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility. Nature Genetics. PMID 36038634 DOI: 10.1038/s41588-022-01156-2  0.708
2022 Fu JM, Satterstrom FK, Peng M, Brand H, Collins RL, Dong S, Wamsley B, Klei L, Wang L, Hao SP, Stevens CR, Cusick C, Babadi M, Banks E, Collins B, ... ... Daly MJ, et al. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nature Genetics. PMID 35982160 DOI: 10.1038/s41588-022-01104-0  0.323
2022 Ruotsalainen SE, Surakka I, Mars N, Karjalainen J, Kurki M, Kanai M, Krebs K, Graham S, Mishra PP, Mishra BH, Sinisalo J, Palta P, Lehtimäki T, Raitakari O, Milani L, ... ... Daly MJ, et al. Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis. Communications Biology. 5: 802. PMID 35978133 DOI: 10.1038/s42003-022-03552-0  0.349
2022 Fadista J, Skotte L, Karjalainen J, Abner E, Sørensen E, Ullum H, Werge T, Esko T, Milani L, Palotie A, Daly M, Melbye M, Feenstra B, Geller F. Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci. Nature Communications. 13: 3200. PMID 35680855 DOI: 10.1038/s41467-022-30921-4  0.335
2022 Niemi MEK, Daly MJ, Ganna A. The human genetic epidemiology of COVID-19. Nature Reviews. Genetics. PMID 35501396 DOI: 10.1038/s41576-022-00478-5  0.3
2022 Trubetskoy V, Pardiñas AF, Qi T, Panagiotaropoulou G, Awasthi S, Bigdeli TB, Bryois J, Chen CY, Dennison CA, Hall LS, Lam M, Watanabe K, Frei O, Ge T, Harwood JC, ... ... Daly MJ, et al. Mapping genomic loci implicates genes and synaptic biology in schizophrenia. Nature. PMID 35396580 DOI: 10.1038/s41586-022-04434-5  0.301
2022 Sun BB, Kurki MI, Foley CN, Mechakra A, Chen CY, Marshall E, Wilk JB, Chahine M, Chevalier P, Christé G, Palotie A, Daly MJ, Runz H. Genetic associations of protein-coding variants in human disease. Nature. 603: 95-102. PMID 35197637 DOI: 10.1038/s41586-022-04394-w  0.41
2022 Häkkinen K, Kiiski JI, Lähteenvuo M, Jukuri T, Suokas K, Niemi-Pynttäri J, Kieseppä T, Männynsalo T, Wegelius A, Haaki W, Lahdensuo K, Kajanne R, Kaunisto MA, Tuulio-Henriksson A, Kampman O, ... ... Daly M, et al. Implementation of CYP2D6 copy-number imputation panel and frequency of key pharmacogenetic variants in Finnish individuals with a psychotic disorder. The Pharmacogenomics Journal. PMID 35197553 DOI: 10.1038/s41397-022-00270-y  0.314
2021 Venkataraman GR, DeBoever C, Tanigawa Y, Aguirre M, Ioannidis AG, Mostafavi H, Spencer CCA, Poterba T, Bustamante CD, Daly MJ, Pirinen M, Rivas MA. Bayesian model comparison for rare-variant association studies. American Journal of Human Genetics. PMID 34822764 DOI: 10.1016/j.ajhg.2021.11.005  0.381
2021 Ntunzwenimana JC, Boucher G, Paquette J, Gosselin H, Alikashani A, Morin N, Beauchamp C, Thauvette L, Rivard MÈ, Dupuis F, Deschênes S, Foisy S, Latour F, Lavallée G, Daly MJ, et al. Functional screen of inflammatory bowel disease genes reveals key epithelial functions. Genome Medicine. 13: 181. PMID 34758847 DOI: 10.1186/s13073-021-00996-7  0.334
2021 Sakaue S, Kanai M, Tanigawa Y, Karjalainen J, Kurki M, Koshiba S, Narita A, Konuma T, Yamamoto K, Akiyama M, Ishigaki K, Suzuki A, Suzuki K, Obara W, Yamaji K, ... ... Daly MJ, et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics. 53: 1415-1424. PMID 34594039 DOI: 10.1038/s41588-021-00931-x  0.356
2021 Nasser J, Bergman DT, Fulco CP, Guckelberger P, Doughty BR, Patwardhan TA, Jones TR, Nguyen TH, Ulirsch JC, Lekschas F, Mualim K, Natri HM, Weeks EM, Munson G, Kane M, ... ... Daly MJ, et al. Genome-wide enhancer maps link risk variants to disease genes. Nature. PMID 33828297 DOI: 10.1038/s41586-021-03446-x  0.546
2021 Hu S, Uniken Venema WT, Westra HJ, Vich Vila A, Barbieri R, Voskuil MD, Blokzijl T, Jansen BH, Li Y, Daly MJ, Xavier RJ, Dijkstra G, Festen EA, Weersma RK. Inflammation status modulates the effect of host genetic variation on intestinal gene expression in inflammatory bowel disease. Nature Communications. 12: 1122. PMID 33602935 DOI: 10.1038/s41467-021-21458-z  0.67
2021 Somineni HK, Nagpal S, Venkateswaran S, Cutler DJ, Okou DT, Haritunians T, Simpson CL, Begum F, Datta LW, Quiros AJ, Seminerio J, Mengesha E, Alexander JS, Baldassano RN, Dudley-Brown S, ... ... Daly MJ, et al. Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease. American Journal of Human Genetics. PMID 33600772 DOI: 10.1016/j.ajhg.2021.02.001  0.734
2021 Collins RL, Brand H, Karczewski KJ, Zhao X, Alföldi J, Francioli LC, Khera AV, Lowther C, Gauthier LD, Wang H, Watts NA, Solomonson M, O'Donnell-Luria A, Baumann A, Munshi R, ... ... Daly MJ, et al. Author Correction: A structural variation reference for medical and population genetics. Nature. PMID 33536627 DOI: 10.1038/s41586-020-03176-6  0.397
2021 Sinnott-Armstrong N, Tanigawa Y, Amar D, Mars N, Benner C, Aguirre M, Venkataraman GR, Wainberg M, Ollila HM, Kiiskinen T, Havulinna AS, Pirruccello JP, Qian J, Shcherbina A, ... ... Daly MJ, et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nature Genetics. PMID 33462484 DOI: 10.1038/s41588-020-00757-z  0.323
2020 Nakata T, Creasey EA, Kadoki M, Lin H, Selig MK, Yao J, Lefkovith A, Daly MJ, Graham DB, Xavier RJ. A missense variant in confers risk for Crohn's disease by disrupting manganese homeostasis and intestinal barrier integrity. Proceedings of the National Academy of Sciences of the United States of America. PMID 33139556 DOI: 10.1073/pnas.2014742117  0.31
2020 Ruotsalainen SE, Partanen JJ, Cichonska A, Lin J, Benner C, Surakka I, Reeve MP, Palta P, Salmi M, Jalkanen S, Ahola-Olli A, Palotie A, Salomaa V, Daly MJ, et al. An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease. European Journal of Human Genetics : Ejhg. PMID 33110245 DOI: 10.1038/s41431-020-00730-8  0.346
2020 Leu C, Bautista JF, Sudarsanam M, Niestroj LM, Stefanski A, Ferguson L, Daly MJ, Jehi L, Najm IM, Busch RM, Lal D. Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizures. Scientific Reports. 10: 15205. PMID 32938993 DOI: 10.1038/S41598-020-72101-8  0.407
2020 Heyne HO, Baez-Nieto D, Iqbal S, Palmer DS, Brunklaus A, May P, Johannesen KM, Lauxmann S, Lemke JR, Møller RS, Pérez-Palma E, Scholl UI, Syrbe S, Lerche H, ... ... Daly MJ, et al. Predicting functional effects of missense variants in voltage-gated sodium and calcium channels. Science Translational Medicine. 12. PMID 32801145 DOI: 10.1126/Scitranslmed.Aay6848  0.363
2020 Zhou W, Brumpton B, Kabil O, Gudmundsson J, Thorleifsson G, Weinstock J, Zawistowski M, Nielsen JB, Chaker L, Medici M, Teumer A, Naitza S, Sanna S, Schultheiss UT, Cappola A, ... ... Daly M, et al. GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer. Nature Communications. 11: 3981. PMID 32769997 DOI: 10.1038/S41467-020-17718-Z  0.336
2020 Mealer RG, Jenkins BG, Chen CY, Daly MJ, Ge T, Lehoux S, Marquardt T, Palmer CD, Park JH, Parsons PJ, Sackstein R, Williams SE, Cummings RD, Scolnick EM, Smoller JW. The schizophrenia risk locus in SLC39A8 alters brain metal transport and plasma glycosylation. Scientific Reports. 10: 13162. PMID 32753748 DOI: 10.1038/S41598-020-70108-9  0.34
2020 Hu S, Vich Vila A, Gacesa R, Collij V, Stevens C, Fu JM, Wong I, Talkowski ME, Rivas MA, Imhann F, Bolte L, van Dullemen H, Dijkstra G, Visschedijk MC, Festen EA, ... ... Daly MJ, et al. Whole exome sequencing analyses reveal gene-microbiota interactions in the context of IBD. Gut. PMID 32651235 DOI: 10.1136/Gutjnl-2019-319706  0.355
2020 Niestroj LM, Perez-Palma E, Howrigan DP, Zhou Y, Cheng F, Saarentaus E, Nürnberg P, Stevelink R, Daly MJ, Palotie A, Lal D. Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. Brain : a Journal of Neurology. PMID 32568404 DOI: 10.1093/Brain/Awaa171  0.349
2020 Whiffin N, Armean IM, Kleinman A, Marshall JL, Minikel EV, Goodrich JK, Quaife NM, Cole JB, Wang Q, Karczewski KJ, Cummings BB, Francioli L, Laricchia K, Guan A, Alipanahi B, ... ... Daly M, et al. The effect of LRRK2 loss-of-function variants in humans. Nature Medicine. PMID 32461697 DOI: 10.1038/S41591-020-0893-5  0.443
2020 Cummings BB, Karczewski KJ, Kosmicki JA, Seaby EG, Watts NA, Singer-Berk M, Mudge JM, Karjalainen J, Satterstrom FK, O'Donnell-Luria AH, Poterba T, Seed C, Solomonson M, Alföldi J, ... ... Daly MJ, et al. Transcript expression-aware annotation improves rare variant interpretation. Nature. 581: 452-458. PMID 32461655 DOI: 10.1038/s41586-020-2329-2  0.336
2020 Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, ... ... Daly MJ, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 581: 434-443. PMID 32461654 DOI: 10.1038/S41586-020-2308-7  0.421
2020 Collins RL, Brand H, Karczewski KJ, Zhao X, Alföldi J, Francioli LC, Khera AV, Lowther C, Gauthier LD, Wang H, Watts NA, Solomonson M, O'Donnell-Luria A, Baumann A, Munshi R, ... ... Daly MJ, et al. A structural variation reference for medical and population genetics. Nature. 581: 444-451. PMID 32461652 DOI: 10.1038/S41586-020-2287-8  0.594
2020 Zhou W, Zhao Z, Nielsen JB, Fritsche LG, LeFaive J, Gagliano Taliun SA, Bi W, Gabrielsen ME, Daly MJ, Neale BM, Hveem K, Abecasis GR, Willer CJ, Lee S. Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts. Nature Genetics. PMID 32424355 DOI: 10.1038/S41588-020-0621-6  0.387
2020 Iqbal S, Hoksza D, Pérez-Palma E, May P, Jespersen JB, Ahmed SS, Rifat ZT, Heyne HO, Rahman MS, Cottrell JR, Wagner FF, Daly MJ, Campbell AJ, Lal D. MISCAST: MIssense variant to protein StruCture Analysis web SuiTe. Nucleic Acids Research. PMID 32402084 DOI: 10.1093/Nar/Gkaa361  0.339
2020 Mealer RG, Williams SE, Daly MJ, Scolnick EM, Cummings RD, Smoller JW. Glycobiology and schizophrenia: a biological hypothesis emerging from genomic research. Molecular Psychiatry. PMID 32377000 DOI: 10.1038/S41380-020-0753-1  0.345
2020 Tanigawa Y, Wainberg M, Karjalainen J, Kiiskinen T, Venkataraman G, Lemmelä S, Turunen JA, Graham RR, Havulinna AS, Perola M, Palotie A, Daly MJ, Rivas MA. Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma. Plos Genetics. 16: e1008682. PMID 32369491 DOI: 10.1371/Journal.Pgen.1008682  0.392
2020 Emdin CA, Haas ME, Khera AV, Aragam K, Chaffin M, Klarin D, Hindy G, Jiang L, Wei WQ, Feng Q, Karjalainen J, Havulinna A, Kiiskinen T, Bick A, Ardissino D, ... ... Daly M, et al. A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease. Plos Genetics. 16: e1008629. PMID 32282858 DOI: 10.1371/Journal.Pgen.1008629  0.319
2020 Sakaue S, Kanai M, Karjalainen J, Akiyama M, Kurki M, Matoba N, Takahashi A, Hirata M, Kubo M, Matsuda K, Murakami Y, Daly MJ, Kamatani Y, Okada Y. Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan. Nature Medicine. PMID 32251405 DOI: 10.1038/S41591-020-0785-8  0.36
2020 Zekavat SM, Ruotsalainen S, Handsaker RE, Alver M, Bloom J, Poterba T, Seed C, Ernst J, Chaffin M, Engreitz J, Peloso GM, Manichaikul A, Yang C, Ryan KA, Fu M, ... ... Daly MJ, et al. Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries. Nature Communications. 11: 1715. PMID 32238811 DOI: 10.1038/S41467-020-15236-6  0.535
2020 Lal D, May P, Perez-Palma E, Samocha KE, Kosmicki JA, Robinson EB, Møller RS, Krause R, Nürnberg P, Weckhuysen S, De Jonghe P, Guerrini R, Niestroj LM, Du J, Marini C, ... ... Daly MJ, et al. Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders. Genome Medicine. 12: 28. PMID 32183904 DOI: 10.1186/S13073-020-00725-6  0.416
2020 Nudel R, Appadurai V, Schork AJ, Buil A, Bybjerg-Grauholm J, Børglum AD, Daly MJ, Mors O, Hougaard DM, Mortensen PB, Werge T, Nordentoft M, Thompson WK, Benros ME. A large population-based investigation into the genetics of susceptibility to gastrointestinal infections and the link between gastrointestinal infections and mental illness. Human Genetics. PMID 32152699 DOI: 10.1007/S00439-020-02140-8  0.364
2020 Dai CL, Vazifeh MM, Yeang CH, Tachet R, Wells RS, Vilar MG, Daly MJ, Ratti C, Martin AR. Population Histories of the United States Revealed through Fine-Scale Migration and Haplotype Analysis. American Journal of Human Genetics. 106: 371-388. PMID 32142644 DOI: 10.1016/J.Ajhg.2020.02.002  0.314
2020 Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, Peng M, Collins R, Grove J, Klei L, Stevens C, Reichert J, Mulhern MS, Artomov M, Gerges S, ... ... Daly MJ, et al. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell. PMID 31981491 DOI: 10.1016/J.Cell.2019.12.036  0.377
2020 Howrigan DP, Rose SA, Samocha KE, Fromer M, Cerrato F, Chen WJ, Churchhouse C, Chambert K, Chandler SD, Daly MJ, Dumont A, Genovese G, Hwu HG, Laird N, Kosmicki JA, et al. Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations. Nature Neuroscience. PMID 31932770 DOI: 10.1038/S41593-019-0564-3  0.371
2020 Naito T, Haritunians T, Khrom M, Li D, Braun JG, Botwin GJ, Yang S, Mengesha E, Stevens C, Daly MJ, McGovern DPB. 763 Prevalence And Effect Of Genetic Risk Of Clotting Disorder In Inflammatory Bowel Disease Gastroenterology. 158. DOI: 10.1016/S0016-5085(20)31081-7  0.352
2019 Pérez-Palma E, May P, Iqbal S, Niestroj LM, Du J, Heyne HO, Castrillon JA, O'Donnell-Luria A, Nürnberg P, Palotie A, Daly M, Lal D. Identification of pathogenic variant enriched regions across genes and gene families. Genome Research. PMID 31871067 DOI: 10.1101/Gr.252601.119  0.421
2019 Farhan SMK, Howrigan DP, Abbott LE, Klim JR, Topp SD, Byrnes AE, Churchhouse C, Phatnani H, Smith BN, Rampersaud E, Wu G, Wuu J, Shatunov A, Iacoangeli A, Al Khleifat A, ... ... Daly MJ, et al. Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. Nature Neuroscience. PMID 31768050 DOI: 10.1038/S41593-019-0530-0  0.326
2019 Lam M, Chen CY, Li Z, Martin AR, Bryois J, Ma X, Gaspar H, Ikeda M, Benyamin B, Brown BC, Liu R, Zhou W, Guan L, Kamatani Y, Kim SW, ... ... Daly MJ, et al. Comparative genetic architectures of schizophrenia in East Asian and European populations. Nature Genetics. PMID 31740837 DOI: 10.1038/S41588-019-0512-X  0.401
2019 Nudel R, Wang Y, Appadurai V, Schork AJ, Buil A, Agerbo E, Bybjerg-Grauholm J, Børglum AD, Daly MJ, Mors O, Hougaard DM, Mortensen PB, Werge T, Nordentoft M, Thompson WK, et al. A large-scale genomic investigation of susceptibility to infection and its association with mental disorders in the Danish population. Translational Psychiatry. 9: 283. PMID 31712607 DOI: 10.1038/S41398-019-0622-3  0.378
2019 Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE, Marcora E, Farrell JJ, Zhao Y, Qu L, Ahmad S, ... ... Daly M, et al. Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation. Molecular Psychiatry. PMID 31636380 DOI: 10.1038/s41380-019-0529-7  0.431
2019 Leu C, Stevelink R, Smith AW, Goleva SB, Kanai M, Ferguson L, Campbell C, Kamatani Y, Okada Y, Sisodiya SM, Cavalleri GL, Koeleman BPC, Lerche H, Jehi L, Davis LK, ... ... Daly MJ, et al. Polygenic burden in focal and generalized epilepsies. Brain : a Journal of Neurology. PMID 31608925 DOI: 10.1093/Brain/Awz292  0.33
2019 Nievergelt CM, Maihofer AX, Klengel T, Atkinson EG, Chen CY, Choi KW, Coleman JRI, Dalvie S, Duncan LE, Gelernter J, Levey DF, Logue MW, Polimanti R, Provost AC, Ratanatharathorn A, ... ... Daly MJ, et al. International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci. Nature Communications. 10: 4558. PMID 31594949 DOI: 10.1038/S41467-019-12576-W  0.43
2019 Tabassum R, Rämö JT, Ripatti P, Koskela JT, Kurki M, Karjalainen J, Palta P, Hassan S, Nunez-Fontarnau J, Kiiskinen TTJ, Söderlund S, Matikainen N, Gerl MJ, Surma MA, Klose C, ... ... Daly MJ, et al. Genetic architecture of human plasma lipidome and its link to cardiovascular disease. Nature Communications. 10: 4329. PMID 31551469 DOI: 10.1038/S41467-019-11954-8  0.371
2019 Lam M, Awasthi S, Watson HJ, Goldstein J, Panagiotaropoulou G, Trubetskoy V, Karlsson R, Frei O, Fan CC, De Witte W, Mota NR, Mullins N, Brügger K, Lee H, Wray N, ... ... Daly M, et al. RICOPILI: Rapid Imputation for COnsortias PIpeLIne. Bioinformatics (Oxford, England). PMID 31393554 DOI: 10.1093/Bioinformatics/Btz633  0.368
2019 Niestroj LM, May P, Artomov M, Kobow K, Coras R, Pérez-Palma E, Altmüller J, Thiele H, Nürnberg P, Leu C, Palotie A, Daly MJ, Klein KM, Beschorner R, Weber YG, et al. Assessment of genetic variant burden in epilepsy-associated brain lesions. European Journal of Human Genetics : Ejhg. PMID 31358956 DOI: 10.1038/S41431-019-0484-4  0.381
2019 Smillie CS, Biton M, Ordovas-Montanes J, Sullivan KM, Burgin G, Graham DB, Herbst RH, Rogel N, Slyper M, Waldman J, Sud M, Andrews E, Velonias G, Haber AL, Jagadeesh K, ... ... Daly MJ, et al. Intra- and Inter-cellular Rewiring of the Human Colon during Ulcerative Colitis. Cell. 178: 714-730.e22. PMID 31348891 DOI: 10.1016/J.Cell.2019.06.029  0.385
2019 Taylor JL, Debost JPG, Morton SU, Wigdor EM, Heyne HO, Lal D, Howrigan DP, Bloemendal A, Larsen JT, Kosmicki JA, Weiner DJ, Homsy J, Seidman JG, Seidman CE, Agerbo E, ... ... Daly MJ, et al. Paternal-age-related de novo mutations and risk for five disorders. Nature Communications. 10: 3043. PMID 31292440 DOI: 10.1097/Ogx.0000000000000775  0.32
2019 Doan RN, Lim ET, De Rubeis S, Betancur C, Cutler DJ, Chiocchetti AG, Overman LM, Soucy A, Goetze S, Freitag CM, Daly MJ, Walsh CA, Buxbaum JD, Yu TW. Recessive gene disruptions in autism spectrum disorder. Nature Genetics. PMID 31209396 DOI: 10.1038/S41588-019-0433-8  0.377
2019 Demontis D, Rajagopal VM, Thorgeirsson TE, Als TD, Grove J, Leppälä K, Gudbjartsson DF, Pallesen J, Hjorthøj C, Reginsson GW, Tyrfingsson T, Runarsdottir V, Qvist P, Christensen JH, Bybjerg-Grauholm J, ... ... Daly MJ, et al. Genome-wide association study implicates CHRNA2 in cannabis use disorder. Nature Neuroscience. PMID 31209380 DOI: 10.1038/S41593-019-0416-1  0.46
2019 Kerminen S, Martin AR, Koskela J, Ruotsalainen SE, Havulinna AS, Surakka I, Palotie A, Perola M, Salomaa V, Daly MJ, Ripatti S, Pirinen M. Geographic Variation and Bias in the Polygenic Scores of Complex Diseases and Traits in Finland. American Journal of Human Genetics. PMID 31155286 DOI: 10.1016/J.Ajhg.2019.05.001  0.403
2019 Du J, Sudarsanam M, Pérez-Palma E, Ganna A, Francioli L, Iqbal S, Niestroj LM, Leu C, Weisburd B, Poterba T, Nürnberg P, Daly MJ, Palotie A, May P, Lal D. Variant Score Ranker-a web application for intuitive missense variant prioritization. Bioinformatics (Oxford, England). PMID 31086968 DOI: 10.1093/Bioinformatics/Btz252  0.395
2019 Nicoletti P, Barrett S, McEvoy L, Daly AK, Aithal G, Lucena MI, Andrade RJ, Wadelius M, Hallberg P, Stephens C, Bjornsson ES, Friedmann P, Kainu K, Laitinen T, Marson A, ... ... Daly MJ, et al. Shared genetic risk factors across carbamazepine-induced hypersensitivity reactions. Clinical Pharmacology and Therapeutics. PMID 31066027 DOI: 10.1002/Cpt.1493  0.385
2019 Heyne HO, Artomov M, Battke F, Bianchini C, Smith DR, Liebmann N, Tadigotla V, Stanley CM, Lal D, Rehm H, Lerche H, Daly MJ, Helbig I, Biskup S, Weber YG, et al. Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31056551 DOI: 10.1038/S41436-019-0531-0  0.354
2019 Stahl EA, Breen G, Forstner AJ, McQuillin A, Ripke S, Trubetskoy V, Mattheisen M, Wang Y, Coleman JRI, Gaspar HA, de Leeuw CA, Steinberg S, Pavlides JMW, Trzaskowski M, Byrne EM, ... ... Daly MJ, et al. Genome-wide association study identifies 30 loci associated with bipolar disorder. Nature Genetics. PMID 31043756 DOI: 10.1038/S41588-019-0397-8  0.42
2019 Weghorn D, Balick DJ, Cassa C, Kosmicki JA, Daly MJ, Beier DR, Sunyaev SR. Applicability of the mutation-selection balance model to population genetics of heterozygous protein-truncating variants in humans. Molecular Biology and Evolution. PMID 31004148 DOI: 10.1093/Molbev/Msz092  0.353
2019 Spataro R, Kousi M, Farhan SMK, Willer JR, Ross JP, Dion PA, Rouleau GA, Daly MJ, Neale BM, La Bella V, Katsanis N. Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion. Human Genomics. 13: 19. PMID 30992063 DOI: 10.1186/S40246-019-0203-9  0.367
2019 Nudel R, Benros ME, Krebs MD, Allesøe RL, Lemvigh CK, Bybjerg-Grauholm J, Børglum AD, Daly MJ, Nordentoft M, Mors O, Hougaard DM, Mortensen PB, Buil A, Werge T, Rasmussen S, et al. Immunity and mental illness: findings from a Danish population-based immunogenetic study of seven psychiatric and neurodevelopmental disorders. European Journal of Human Genetics : Ejhg. PMID 30976114 DOI: 10.1038/S41431-019-0402-9  0.343
2019 Martin AR, Kanai M, Kamatani Y, Okada Y, Neale BM, Daly MJ. Clinical use of current polygenic risk scores may exacerbate health disparities. Nature Genetics. 51: 584-591. PMID 30926966 DOI: 10.1038/S41588-019-0379-X  0.342
2019 Sohail M, Maier RM, Ganna A, Bloemendal A, Martin AR, Turchin MC, Chiang CW, Hirschhorn J, Daly MJ, Patterson N, Neale B, Mathieson I, Reich D, Sunyaev SR. Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies. Elife. 8. PMID 30895926 DOI: 10.7554/Elife.39702  0.433
2019 Walker GJ, Harrison JW, Heap GA, Voskuil MD, Andersen V, Anderson CA, Ananthakrishnan AN, Barrett JC, Beaugerie L, Bewshea CM, Cole AT, Cummings FR, Daly MJ, Ellul P, Fedorak RN, et al. Association of Genetic Variants in NUDT15 With Thiopurine-Induced Myelosuppression in Patients With Inflammatory Bowel Disease. Jama. 321: 773-785. PMID 30806694 DOI: 10.1001/Jama.2019.0709  0.391
2019 Grove J, Ripke S, Als TD, Mattheisen M, Walters RK, Won H, Pallesen J, Agerbo E, Andreassen OA, Anney R, Awashti S, Belliveau R, Bettella F, Buxbaum JD, Bybjerg-Grauholm J, ... ... Daly MJ, et al. Identification of common genetic risk variants for autism spectrum disorder. Nature Genetics. PMID 30804558 DOI: 10.1038/S41588-019-0344-8  0.437
2019 Artomov M, Joseph V, Tiao G, Thomas T, Schrader K, Klein RJ, Kiezun A, Gupta N, Margolin L, Stratigos AJ, Kim I, Shannon K, Ellisen LW, Haber D, Getz G, ... ... Daly MJ, et al. Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes. European Journal of Human Genetics : Ejhg. PMID 30718883 DOI: 10.1038/S41431-019-0346-0  0.542
2019 Collij V, Imhann F, Vich Vila A, Fu J, Dijkstra G, Festen EAM, Voskuil MD, Daly MJ, Xavier RJ, Wijmenga C, Zhernakova A, Weersma RK. SLC39A8 missense variant is associated with Crohn's disease but does not have a major impact on gut microbiome composition in healthy subjects. Plos One. 14: e0211328. PMID 30703110 DOI: 10.1371/Journal.Pone.0211328  0.381
2019 Schork AJ, Won H, Appadurai V, Nudel R, Gandal M, Delaneau O, Revsbech Christiansen M, Hougaard DM, Bækved-Hansen M, Bybjerg-Grauholm J, Giørtz Pedersen M, Agerbo E, Bøcker Pedersen C, Neale BM, Daly MJ, et al. A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment. Nature Neuroscience. PMID 30692689 DOI: 10.1038/S41593-018-0320-0  0.421
2019 Kurki MI, Saarentaus E, Pietiläinen O, Gormley P, Lal D, Kerminen S, Torniainen-Holm M, Hämäläinen E, Rahikkala E, Keski-Filppula R, Rauhala M, Korpi-Heikkilä S, Komulainen-Ebrahim J, Helander H, Vieira P, ... ... Daly MJ, et al. Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland. Nature Communications. 10: 410. PMID 30679432 DOI: 10.1038/S41467-018-08262-Y  0.443
2019 Somineni HK, Haritunians T, Simpson CL, Cutler DJ, Okou D, Itan Y, Venkateswaran S, Stevens C, Datta LW, Dhere TA, Lazarev M, Consortium EAAI, Zwick ME, Cho JH, Daly MJ, et al. Su1028 – Whole-Genome Sequencing of African Americans Identifies Novel Rare Variants Associated with Inflammatory Bowel Disease Gastroenterology. 156: S-488-S-489. DOI: 10.1016/S0016-5085(19)38082-5  0.727
2019 Hu S, Vila AV, Gacesa R, Collij V, Xavier R, Stevens C, Daly MJ, Wijmenga C, van Dullemen H, Dijkstra G, Visschedijk MC, Festen EA, Fu J, Kurilshikov A, Zhernakova A, et al. 149 – In-Depth Characterization of Host-Genetics and Gut Microbiome Unravels Novel Host-Microbiome Interactions in Inflammatory Bowel Disease Gastroenterology. 156: S-34. DOI: 10.1016/S0016-5085(19)36862-3  0.311
2019 Singh T, Neale B, Daly M. 45 Exome Sequencing Of 25,000 Schizophrenia Cases Implicates 10 Risk Genes, And Provides Insight Into Shared And Distinct Genetic Risk And Biology With Other Neurodevelopmental Disorders European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2019.07.186  0.356
2019 Singh T, Neale B, Daly M. 54EXOME SEQUENCING OF 23,851 CASES IMPLICATES NOVEL RISK GENES AND PROVIDES INSIGHTS INTO THE GENETIC ARCHITECTURE OF SCHIZOPHRENIA European Neuropsychopharmacology. 29: S1098. DOI: 10.1016/J.Euroneuro.2018.08.061  0.366
2019 Kosmicki J, He L, Barrett J, Daly M. 32MOST EXOME SEQUENCING IDENTIFIED AUTISM SPECTRUM DISORDER GENES CONFER GREATER RISK TO INTELLECTUAL DISABILITY / DEVELOPMENTAL DELAY THAN ASD European Neuropsychopharmacology. 29: S1084-S1085. DOI: 10.1016/J.Euroneuro.2018.08.039  0.312
2019 Satterstrom F, Kosmicki J, Wang J, Collins R, de Rubeis S, Breen M, Gerges S, Børglum A, Buxbaum J, Cutler D, Devlin B, Roeder K, Sanders S, Talkowski M, Daly M. 31DISCOVERY AND CHARACTERIZATION OF 102 GENES ASSOCIATED WITH AUTISM FROM EXOME SEQUENCING OF 37,269 INDIVIDUALS European Neuropsychopharmacology. 29: S1083-S1084. DOI: 10.1016/J.Euroneuro.2018.08.038  0.376
2019 Maihofer A, Atkinson E, Klengel T, Ratanatharathorn A, Coleman J, Duncan L, Daly M, Ressler K, Liberzon I, Koenen K, Nievergelt C. Findings From Pgc Ptsd Genome-Wide Association Study Of Over 200,000 Samples European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2018.07.070  0.353
2019 Duan J, Lescai F, Satterstrom K, Hjorthøj CR, Werge T, Mortensen PB, Mors O, Hougaard D, Daly M, Nordentoft M, Neale B, Børglum A, Demontis D. Evaluation Of The Impact Of Ultra-Rare Variants In Cannabis Use Disorder Using Exome Sequencing European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2017.08.301  0.467
2019 Singh T, Neale B, Daly M. Initial Results From The Meta-Analysis Of The Whole-Exomes Of Over 20,000 Schizophrenia Cases And 45,000 Controls European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2017.08.057  0.42
2019 Lescai F, Satterstrom K, Als T, Grove J, Maller J, Grauholm J, Stevens C, Walters R, Sullivan P, McCarroll S, Hougaard D, Werge T, Neale B, Daly M, Børglum A. Large Meta-Analysis Of Scandinavian Exome Sequencing Studies Of Schizophrenia European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2017.08.056  0.385
2019 Kosmicki J, He L, Samocha K, Robinson E, Barrett J, Daly M. Meta-Analysis Of 9246 Neurodevelopmental Disorder Probands Identifies 8 Novel Genes And Finds De Novo Mutations In Prior Associated Autism Spectrum Disorder Genes Are More Often Observed In Probands Without Asd European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2017.08.011  0.403
2019 Werling D, Brand H, An J, Stone M, Glessner J, Zhu L, Collins R, Daly M, State M, Quinlan A, Marth G, Roeder K, Devlin B, Sanders S, Talkowski M. LIMITED CONTRIBUTION OF RARE, NONCODING VARIATION TO AUTISM SPECTRUM DISORDER FROM SEQUENCING OF 2,076 GENOMES IN QUARTET FAMILIES European Neuropsychopharmacology. 29: S784-S785. DOI: 10.1016/J.Euroneuro.2017.08.010  0.477
2019 Huang H, Lam M, Chen C, Martin A, Li Z, Ripke S, O'Donovan M, Daly M. Using Genetic Diversity From East Asia To Improve The Biological Insight Into Schizophrenia European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2017.08.002  0.353
2019 Nievergelt C, Maihofer A, Dalvie S, Ratanatharathorn A, Duncan L, Daly M, Ressler K, Liberzon I, Koenen K. Large-Scale Genetic Characterization of PTSD Across Ancestry, Gender and Trauma-Type European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2017.06.091  0.401
2019 Demontis D, Satterstrom K, Duan J, Lescai F, Østergaard SD, Lesch K, Werge T, Mortensen PB, Glerup S, Franke B, Hougaard DM, Reif A, Daly M, Neale B, Børglum AD. The Role of Ultra-Rare Coding Variants In ADHD European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2017.06.042  0.35
2019 Iqbal S, Jespersen JB, Perez-Palma E, May P, Palotie A, Cottrell JR, Wagner FF, Daly MJ, Campbell AJ, Lal D. Functional Interpretation of Single Amino Acid Substitutions in 1,330 Disease-Associated Genes Biophysical Journal. 116. DOI: 10.1016/J.Bpj.2018.11.2266  0.319
2019 Demontis D, Satterstrom KF, Duan J, Lescai F, Østergaard SD, Lesch K, Werge T, Mortensen P, Glerup S, Franke B, Hougaard DM, Reif A, Daly M, Neale B, Børglum A. 13. The Role of Common and Rare Variants in ADHD Risk and Genetic Overlap With Other Phenotypes Biological Psychiatry. 85. DOI: 10.1016/J.Biopsych.2019.03.027  0.363
2018 Martin AR, Daly MJ, Robinson EB, Hyman SE, Neale BM. Predicting Polygenic Risk of Psychiatric Disorders. Biological Psychiatry. PMID 30737014 DOI: 10.1016/J.Biopsych.2018.12.015  0.416
2018 An JY, Lin K, Zhu L, Werling DM, Dong S, Brand H, Wang HZ, Zhao X, Schwartz GB, Collins RL, Currall BB, Dastmalchi C, Dea J, Duhn C, Gilson MC, ... ... Daly MJ, et al. Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder. Science (New York, N.Y.). 362. PMID 30545852 DOI: 10.1126/Science.Aat6576  0.375
2018 Demontis D, Walters RK, Martin J, Mattheisen M, Als TD, Agerbo E, Baldursson G, Belliveau R, Bybjerg-Grauholm J, Bækvad-Hansen M, Cerrato F, Chambert K, Churchhouse C, Dumont A, Eriksson N, ... ... Daly MJ, et al. Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder. Nature Genetics. PMID 30478444 DOI: 10.1038/S41588-018-0269-7  0.345
2018 Niestroj LM, Du J, Nothnagel M, May P, Palotie A, Daly MJ, Nürnberg P, Blümcke I, Lal D. Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies. Epilepsia. PMID 30341947 DOI: 10.1111/Epi.14579  0.333
2018 Diogo D, Tian C, Franklin CS, Alanne-Kinnunen M, March M, Spencer CCA, Vangjeli C, Weale ME, Mattsson H, Kilpeläinen E, Sleiman PMA, Reilly DF, McElwee J, Maranville JC, Chatterjee AK, ... ... Daly MJ, et al. Phenome-wide association studies across large population cohorts support drug target validation. Nature Communications. 9: 4285. PMID 30327483 DOI: 10.1038/S41467-018-06540-3  0.399
2018 Martin AR, Teferra S, Möller M, Hoal EG, Daly MJ. The critical needs and challenges for genetic architecture studies in Africa. Current Opinion in Genetics & Development. 53: 113-120. PMID 30240950 DOI: 10.1016/J.Gde.2018.08.005  0.405
2018 Pettersson E, Lichtenstein P, Larsson H, Song J, Agrawal A, Børglum AD, Bulik CM, Daly MJ, Davis LK, Demontis D, Edenberg HJ, Grove J, Gelernter J, Neale BM, et al. Genetic influences on eight psychiatric disorders based on family data of 4 408 646 full and half-siblings, and genetic data of 333 748 cases and controls. Psychological Medicine. 1-8. PMID 30221610 DOI: 10.1017/S0033291718002039  0.322
2018 Zekavat SM, Ruotsalainen S, Handsaker RE, Alver M, Bloom J, Poterba T, Seed C, Ernst J, Chaffin M, Engreitz J, Peloso GM, Manichaikul A, Yang C, Ryan KA, Fu M, ... ... Daly MJ, et al. Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries. Nature Communications. 9: 3493. PMID 30140049 DOI: 10.1038/s41467-018-05975-y  0.455
2018 Denson LA, Jurickova I, Karns R, Shaw KA, Cutler DJ, Okou D, Alexander Valencia C, Dodd A, Mondal K, Aronow BJ, Haberman Y, Linn A, Price A, Bezold R, Lake K, ... ... Daly MJ, et al. Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte-Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn's Disease. Inflammatory Bowel Diseases. PMID 30124884 DOI: 10.1093/Ibd/Izy265  0.693
2018 Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE, Marcora E, Farrell JJ, Zhao Y, Qu L, Ahmad S, ... ... Daly M, et al. Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation. Molecular Psychiatry. PMID 30108311 DOI: 10.1038/S41380-018-0112-7  0.572
2018 Zekavat SM, Ruotsalainen S, Handsaker RE, Alver M, Bloom J, Poterba T, Seed C, Ernst J, Chaffin M, Engreitz J, Peloso GM, Manichaikul A, Yang C, Ryan KA, Fu M, ... ... Daly MJ, et al. Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries. Nature Communications. 9: 2606. PMID 29973585 DOI: 10.1038/S41467-018-04668-W  0.599
2018 Heyne HO, Singh T, Stamberger H, Abou Jamra R, Caglayan H, Craiu D, De Jonghe P, Guerrini R, Helbig KL, Koeleman BPC, Kosmicki JA, Linnankivi T, May P, Muhle H, Møller RS, ... ... Daly MJ, et al. De novo variants in neurodevelopmental disorders with epilepsy. Nature Genetics. PMID 29942082 DOI: 10.1038/S41588-018-0143-7  0.385
2018 Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, ... ... Daly M, et al. Analysis of shared heritability in common disorders of the brain. Science (New York, N.Y.). 360. PMID 29930110 DOI: 10.1126/Science.Aap8757  0.336
2018 Olsen L, Sparsø T, Weinsheimer SM, Dos Santos MBQ, Mazin W, Rosengren A, Sanchez XC, Hoeffding LK, Schmock H, Baekvad-Hansen M, Bybjerg-Grauholm J, Daly MJ, Neale BM, Pedersen MG, Agerbo E, et al. Prevalence of rearrangements in the 22q11.2 region and population-based risk of neuropsychiatric and developmental disorders in a Danish population: a case-cohort study. The Lancet. Psychiatry. PMID 29886042 DOI: 10.1016/S2215-0366(18)30168-8  0.333
2018 Ganna A, Satterstrom FK, Zekavat SM, Das I, Kurki MI, Churchhouse C, Alfoldi J, Martin AR, Havulinna AS, Byrnes A, Thompson WK, Nielsen PR, Karczewski KJ, Saarentaus E, Rivas MA, ... ... Daly MJ, et al. Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum. American Journal of Human Genetics. PMID 29861106 DOI: 10.1016/J.Ajhg.2018.05.002  0.422
2018 Li D, Haritunians T, Landers C, Potdar AA, Yang S, Huang H, Schumm LP, Daly M, Targan SR, McGovern DPB. Late-Onset Crohn's Disease Is A Subgroup Distinct in Genetic and Behavioral Risk Factors With UC-Like Characteristics. Inflammatory Bowel Diseases. PMID 29860388 DOI: 10.1093/Ibd/Izy148  0.33
2018 Zhang S, Samocha KE, Rivas MA, Karczewski KJ, Daly E, Schmandt B, Neale BM, MacArthur DG, Daly MJ. Base-specific mutational intolerance near splice-sites clarifies role of non-essential splice nucleotides. Genome Research. PMID 29858273 DOI: 10.1101/Gr.231902.117  0.348
2018 Rivas MA, Avila BE, Koskela J, Huang H, Stevens C, Pirinen M, Haritunians T, Neale BM, Kurki M, Ganna A, Graham D, Glaser B, Peter I, Atzmon G, Barzilai N, ... ... Daly MJ, et al. Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. Plos Genetics. 14: e1007329. PMID 29795570 DOI: 10.1371/Journal.Pgen.1007329  0.45
2018 Gormley P, Kurki MI, Hiekkala ME, Veerapen K, Häppölä P, Mitchell AA, Lal D, Palta P, Surakka I, Kaunisto MA, Hämäläinen E, Vepsäläinen S, Havanka H, Harno H, Ilmavirta M, ... ... Daly MJ, et al. Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families. Neuron. PMID 29731251 DOI: 10.1016/J.Neuron.2018.04.014  0.341
2018 Martin AR, Karczewski KJ, Kerminen S, Kurki MI, Sarin AP, Artomov M, Eriksson JG, Esko T, Genovese G, Havulinna AS, Kaprio J, Konradi A, Korányi L, Kostareva A, Männikkö M, ... ... Daly MJ, et al. Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland. American Journal of Human Genetics. PMID 29706349 DOI: 10.1016/J.Ajhg.2018.03.003  0.403
2018 Werling DM, Brand H, An JY, Stone MR, Zhu L, Glessner JT, Collins RL, Dong S, Layer RM, Markenscoff-Papadimitriou E, Farrell A, Schwartz GB, Wang HZ, Currall BB, Zhao X, ... ... Daly MJ, et al. An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder. Nature Genetics. PMID 29700473 DOI: 10.1038/S41588-018-0107-Y  0.453
2018 DeBoever C, Tanigawa Y, Lindholm ME, McInnes G, Lavertu A, Ingelsson E, Chang C, Ashley EA, Bustamante CD, Daly MJ, Rivas MA. Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study. Nature Communications. 9: 1612. PMID 29691392 DOI: 10.1038/S41467-018-03910-9  0.4
2018 Shaw KA, Cutler DJ, Okou D, Dodd A, Aronow BJ, Haberman Y, Stevens C, Walters TD, Griffiths A, Baldassano RN, Noe JD, Hyams JS, Crandall WV, Kirschner BS, Heyman MB, ... ... Daly M, et al. Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort. Genes and Immunity. PMID 29593342 DOI: 10.1038/S41435-018-0015-2  0.76
2018 Moran CJ, Huang H, Rivas M, Kaplan JL, Daly MJ, Winter HS. Genetic variants in cellular transport do not affect mesalamine response in ulcerative colitis. Plos One. 13: e0192806. PMID 29579042 DOI: 10.1371/Journal.Pone.0192806  0.336
2018 Wei X, Calvo-Vidal MN, Chen S, Wu G, Revuelta MV, Sun J, Zhang J, Walsh MF, Nichols KE, Joseph V, Snyder C, Vachon CM, McKay JD, Wang SP, Jayabalan DS, ... ... Daly MJ, et al. Germline mutations in lysine specific demethylase 1 (LSD1/KDM1A) confer susceptibility to multiple myeloma. Cancer Research. PMID 29559475 DOI: 10.1158/0008-5472.Can-17-1900  0.307
2018 Denson LA, Jurickova I, Karns R, Shaw KA, Cutler DJ, Okou D, Dodd A, Quinn K, Mondal K, Aronow BJ, Haberman Y, Linn A, Price A, Bezold R, Lake K, ... ... Daly MJ, et al. Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients with Crohn's Disease. Gastroenterology. PMID 29454792 DOI: 10.1053/J.Gastro.2018.02.016  0.7
2018 Mohanan V, Nakata T, Desch AN, Lévesque C, Boroughs A, Guzman G, Cao Z, Creasey E, Yao J, Boucher G, Charron G, Bhan AK, Schenone M, Carr SA, Reinecker HC, ... Daly MJ, et al. C1orf106 is a colitis risk gene that regulates stability of epithelial adherens junctions. Science (New York, N.Y.). PMID 29420262 DOI: 10.1126/Science.Aan0814  0.39
2018 Kolde R, Franzosa EA, Rahnavard G, Hall AB, Vlamakis H, Stevens C, Daly MJ, Xavier RJ, Huttenhower C. Host genetic variation and its microbiome interactions within the Human Microbiome Project. Genome Medicine. 10: 6. PMID 29378630 DOI: 10.1186/S13073-018-0515-8  0.313
2018 Flannick J, Fuchsberger C, Mahajan A, Teslovich TM, Agarwala V, Gaulton KJ, Caulkins L, Koesterer R, Ma C, Moutsianas L, McCarthy DJ, Rivas MA, Perry JRB, Sim X, Blackwell TW, ... ... Daly MJ, et al. Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Scientific Data. 5: 180002. PMID 29360107 DOI: 10.1038/sdata.2018.2  0.556
2018 Hui KY, Fernandez-Hernandez H, Hu J, Schaffner A, Pankratz N, Hsu NY, Chuang LS, Carmi S, Villaverde N, Li X, Rivas M, Levine AP, Bao X, Labrias PR, Haritunians T, ... ... Daly MJ, et al. Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease. Science Translational Medicine. 10. PMID 29321258 DOI: 10.1126/Scitranslmed.Aai7795  0.356
2018 Sohail M, Maier RM, Ganna A, Bloemendal A, Martin AR, Turchin MC, Chiang CW, Hirschhorn J, Daly MJ, Patterson N, Neale B, Mathieson I, Reich D, Sunyaev SR. Author response: Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies Elife. DOI: 10.7554/Elife.39702.042  0.361
2018 Walker G, Harrison J, Voskuil M, Heap G, Heerasing N, Hendy P, Koskela J, Daly M, Sokol H, McGovern D, Weersma R, Bewshea C, Weedon M, Goodhand J, Kennedy N, et al. OP035 NUDT15 variants contribute to thiopurine-induced myelosuppression in European populations Journal of Crohns & Colitis. 12. DOI: 10.1093/Ecco-Jcc/Jjx180.034  0.311
2018 McGovern DPB, Daly MJ. P164 Using Exome Sequencing To Expand The Genetic Architecture Of Inflammatory Bowel Disease Gastroenterology. 154. DOI: 10.1053/J.Gastro.2017.11.216  0.376
2018 Denson LA, Jurickova I, Karns R, Shaw KA, Cutler DJ, Okou D, Dodd A, Mondal K, Aronow BJ, Haberman Y, Linn A, Price A, Bezold R, Lake K, Jackson K, ... ... Daly MJ, et al. 27 CLINICAL AND GENOMIC CORRELATES OF NEUTROPHIL GRANULOCYTE-MACROPHAGE COLONY STIMULATING FACTOR SIGNALING IN PEDIATRIC CROHN DISEASE Inflammatory Bowel Diseases. 24: S7-S8. DOI: 10.1053/J.Gastro.2017.11.051  0.684
2018 Denson LA, Jurickova I, Karns R, Shaw KA, Cutler DJ, Okou D, Dodd A, Mondal K, Aronow BJ, Haberman Y, Linn A, Price A, Bezold R, Lake K, Jackson K, ... ... Daly MJ, et al. 27 CLINICAL AND GENOMIC CORRELATES OF NEUTROPHIL GRANULOCYTE-MACROPHAGE COLONY STIMULATING FACTOR SIGNALING IN PEDIATRIC CROHN DISEASE Gastroenterology. 154: S10-S11. DOI: 10.1053/j.gastro.2017.11.051  0.659
2018 Jurickova I, Karns R, Cutler DJ, Okou D, Dodd A, Mondal K, Aronow BJ, Haberman Y, Linn A, Price A, Bezold R, Lake K, Jackson K, Walters TD, Griffiths AM, ... ... Daly MJ, et al. 378 - Genomic Correlates of Reduced Neutrophil Granulocytemacrophage Colony Stimulating Factor Signaling in Stricturing Pediatric Crohn Disease Gastroenterology. 154: S-89-S-90. DOI: 10.1016/S0016-5085(18)30746-7  0.692
2017 Artomov M, Stratigos AJ, Kim I, Kumar R, Lauss M, Reddy BY, Miao B, Daniela Robles-Espinoza C, Sankar A, Njauw CN, Shannon K, Gragoudas ES, Marie Lane A, Iyer V, Newton-Bishop JA, ... ... Daly MJ, et al. Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing. Journal of the National Cancer Institute. 109. PMID 29522175 DOI: 10.1093/Jnci/Djx083  0.418
2017 Lee PH, Lee C, Li X, Wee B, Dwivedi T, Daly M. Principles and methods of in-silico prioritization of non-coding regulatory variants. Human Genetics. PMID 29288389 DOI: 10.1007/S00439-017-1861-0  0.425
2017 Jason F, Fuchsberger C, Mahajan A, Teslovich TM, Agarwala V, Gaulton KJ, Caulkins L, Koesterer R, Ma C, Moutsianas L, McCarthy DJ, Rivas MA, Perry JRB, Sim X, Blackwell TW, ... ... Daly MJ, et al. Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Scientific Data. 4: 170179. PMID 29257133 DOI: 10.1038/Sdata.2017.179  0.679
2017 Martin AR, Lin M, Granka JM, Myrick JW, Liu X, Sockell A, Atkinson EG, Werely CJ, Möller M, Sandhu MS, Kingsley DM, Hoal EG, Liu X, Daly MJ, Feldman MW, et al. An Unexpectedly Complex Architecture for Skin Pigmentation in Africans. Cell. 171: 1340-1353.e14. PMID 29195075 DOI: 10.1016/J.Cell.2017.11.015  0.317
2017 Sanders SJ, Neale BM, Huang H, Werling DM, An JY, Dong S, Abecasis G, Arguello PA, Blangero J, Boehnke M, Daly MJ, Eggan K, Geschwind DH, Glahn DC, Goldstein DB, et al. Whole genome sequencing in psychiatric disorders: the WGSPD consortium. Nature Neuroscience. 20: 1661-1668. PMID 29184211 DOI: 10.1038/S41593-017-0017-9  0.354
2017 Huang H, Duggal P, Thio CL, Latanich R, Goedert JJ, Mangia A, Cox AL, Kirk GD, Mehta S, Aneja J, Alric L, Donfield SM, Cramp ME, Khakoo SI, Tobler LH, ... ... Daly MJ, et al. Fine-mapping of genetic loci driving spontaneous clearance of hepatitis C virus infection. Scientific Reports. 7: 15843. PMID 29158528 DOI: 10.1038/S41598-017-16011-2  0.375
2017 Leshchiner ES, Rush JS, Durney MA, Cao Z, Dančík V, Chittick B, Wu H, Petrone A, Bittker JA, Phillips A, Perez JR, Shamji AF, Kaushik VK, Daly MJ, Graham DB, et al. Small-molecule inhibitors directly target CARD9 and mimic its protective variant in inflammatory bowel disease. Proceedings of the National Academy of Sciences of the United States of America. 114: 11392-11397. PMID 29073062 DOI: 10.1073/Pnas.1705748114  0.4
2017 Kerminen S, Havulinna AS, Hellenthal G, Martin AR, Sarin AP, Perola M, Palotie A, Salomaa V, Daly MJ, Ripatti S, Pirinen M. Fine-Scale Genetic Structure in Finland. G3 (Bethesda, Md.). 7: 3459-3468. PMID 28983069 DOI: 10.1534/G3.117.300217  0.388
2017 Pedersen CB, Bybjerg-Grauholm J, Pedersen MG, Grove J, Agerbo E, Bækvad-Hansen M, Poulsen JB, Hansen CS, McGrath JJ, Als TD, Goldstein JI, Neale BM, Daly MJ, Hougaard DM, Mors O, et al. The iPSYCH2012 case-cohort sample: new directions for unravelling genetic and environmental architectures of severe mental disorders. Molecular Psychiatry. PMID 28924187 DOI: 10.1038/Mp.2017.196  0.314
2017 Simeonov DR, Gowen BG, Boontanrart M, Roth TL, Gagnon JD, Mumbach MR, Satpathy AT, Lee Y, Bray NL, Chan AY, Lituiev DS, Nguyen ML, Gate RE, Subramaniam M, Li Z, ... ... Daly MJ, et al. Discovery of stimulation-responsive immune enhancers with CRISPR activation. Nature. PMID 28854172 DOI: 10.1038/Nature23875  0.4
2017 Huang H, Fang M, Jostins L, Umićević Mirkov M, Boucher G, Anderson CA, Andersen V, Cleynen I, Cortes A, Crins F, D'Amato M, Deffontaine V, Dmitrieva J, Docampo E, Elansary M, ... ... Daly MJ, et al. Fine-mapping inflammatory bowel disease loci to single-variant resolution. Nature. PMID 28658209 DOI: 10.1038/Nature22969  0.715
2017 Lokki AI, Daly E, Triebwasser M, Kurki MI, Roberson EDO, Häppölä P, Auro K, Perola M, Heinonen S, Kajantie E, Kere J, Kivinen K, Pouta A, Salmon JE, Meri S, ... Daly M, et al. Protective Low-Frequency Variants for Preeclampsia in the Fms Related Tyrosine Kinase 1 Gene in the Finnish Population. Hypertension (Dallas, Tex. : 1979). PMID 28652462 DOI: 10.1161/Hypertensionaha.117.09406  0.424
2017 Weiner DJ, Wigdor EM, Ripke S, Walters RK, Kosmicki JA, Grove J, Samocha KE, Goldstein JI, Okbay A, Bybjerg-Grauholm J, Werge T, Hougaard DM, Taylor J, ... ... Daly MJ, et al. Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders. Nature Genetics. PMID 28504703 DOI: 10.1038/Ng.3863  0.332
2017 Duncan L, Yilmaz Z, Gaspar H, Walters R, Goldstein J, Anttila V, Bulik-Sullivan B, Ripke S, Thornton L, Hinney A, Daly M, Sullivan PF, Zeggini E, Breen G, et al. Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa. The American Journal of Psychiatry. appiajp201716121402. PMID 28494655 DOI: 10.1176/Appi.Ajp.2017.16121402  0.405
2017 Duncan LE, Ratanatharathorn A, Aiello AE, Almli LM, Amstadter AB, Ashley-Koch AE, Baker DG, Beckham JC, Bierut LJ, Bisson J, Bradley B, Chen CY, Dalvie S, Farrer LA, Galea S, ... ... Daly MJ, et al. Largest GWAS of PTSD (N=20 070) yields genetic overlap with schizophrenia and sex differences in heritability. Molecular Psychiatry. PMID 28439101 DOI: 10.1038/Mp.2017.77  0.424
2017 Saleheen D, Natarajan P, Armean IM, Zhao W, Rasheed A, Khetarpal SA, Won HH, Karczewski KJ, O'Donnell-Luria AH, Samocha KE, Weisburd B, Gupta N, Zaidi M, Samuel M, Imran A, ... ... Daly MJ, et al. Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. Nature. 544: 235-239. PMID 28406212 DOI: 10.1038/Nature22034  0.536
2017 Cassa CA, Weghorn D, Balick DJ, Jordan DM, Nusinow D, Samocha KE, O'Donnell-Luria A, MacArthur DG, Daly MJ, Beier DR, Sunyaev SR. Estimating the selective effects of heterozygous protein-truncating variants from human exome data. Nature Genetics. PMID 28369035 DOI: 10.1038/Ng.3831  0.386
2017 Martin AR, Gignoux CR, Walters RK, Wojcik GL, Neale BM, Gravel S, Daly MJ, Bustamante CD, Kenny EE. Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations. American Journal of Human Genetics. PMID 28366442 DOI: 10.1016/J.Ajhg.2017.03.004  0.418
2017 Manning A, Highland HM, Gasser J, Sim X, Tukiainen T, Fontanillas P, Grarup N, Rivas MA, Mahajan A, Locke AE, Cingolani P, Pers TH, Viñuela A, Brown AA, Wu Y, ... ... Daly MJ, et al. A Low-Frequency Inactivating Akt2 Variant Enriched in the Finnish Population is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk. Diabetes. PMID 28341696 DOI: 10.2337/Db16-1329  0.57
2017 Kosmicki JA, Samocha KE, Howrigan DP, Sanders SJ, Slowikowski K, Lek M, Karczewski KJ, Cutler DJ, Devlin B, Roeder K, Buxbaum JD, Neale BM, MacArthur DG, Wall DP, Robinson EB, ... Daly MJ, et al. Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Nature Genetics. PMID 28191890 DOI: 10.1038/Ng.3789  0.747
2017 Chheda H, Palta P, Pirinen M, McCarthy S, Walter K, Koskinen S, Salomaa V, Daly M, Durbin R, Palotie A, Aittokallio T, Ripatti S. Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom. European Journal of Human Genetics : Ejhg. PMID 28145424 DOI: 10.1038/Ejhg.2016.205  0.465
2017 Lokki AI, Triebwasser M, Daly E, Uotila L, Fagerholm S, Auro K, Perola M, Kurki M, Daly M, Atkinson JP, Meri S, Laivuori H. Genetic association of complement receptors to preeclampsia revealed by targeted exomic sequencing Placenta. 57: 279. DOI: 10.1016/J.Placenta.2017.07.179  0.349
2017 Lokki AI, Triebwasser M, Daly E, Uotila L, Fagerholm S, Auro K, Perola M, Finnpec, Kurki M, Daly M, Atkinson JP, Laivuori H, Meri S. 064Genetic association of complement receptors to preeclampsia revealed by targeted exomic sequencing Molecular Immunology. 89: 147-148. DOI: 10.1016/J.Molimm.2017.06.098  0.349
2017 Gill M, Corvin A, Daly M, Sullivan P, Levinson D. PGC3 AIM 6 - Large Scale Wgs of Multiply Affected Pedigrees European Neuropsychopharmacology. 27. DOI: 10.1016/J.Euroneuro.2016.09.459  0.488
2017 Maihofer A, Duncan L, Ratanatharathorn A, Davie S, Martin A, Daly M, Ressler K, Liberzon I, Koenen K, Nievergelt C, Workgroup PP. 85. SNP-Based Dissection of PTSD from Large-Scale Genome-Wide Association Studies (GWAS) across Military and Civilian Cohorts Biological Psychiatry. 81. DOI: 10.1016/J.Biopsych.2017.02.097  0.387
2016 Nicoletti P, Aithal GP, Bjornsson ES, Andrade RJ, Sawle A, Arrese M, Barnhart HX, Bondon-Guitton E, Hayashi PH, Bessone F, Carvajal A, Cascorbi I, Cirulli ET, Chalasani N, Conforti A, ... ... Daly MJ, et al. Association of Liver Injury From Specific Drugs, or Groups of Drugs, With Polymorphisms in HLA and Other Genes in a Genome-wide Association Study. Gastroenterology. PMID 28043905 DOI: 10.1053/J.Gastro.2016.12.016  0.374
2016 Yu Y, Wagner EK, Souied EH, Seitsonen S, Immonen IJ, Häppölä P, Raychaudhuri S, Daly MJ, Seddon JM. Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration. Human Molecular Genetics. PMID 28011711 DOI: 10.1093/Hmg/Ddw336  0.616
2016 Graham DB, Lefkovith A, Deelen P, de Klein N, Varma M, Boroughs A, Desch AN, Ng AC, Guzman G, Schenone M, Petersen CP, Bhan AK, Rivas MA, Daly MJ, Carr SA, et al. TMEM258 Is a Component of the Oligosaccharyltransferase Complex Controlling ER Stress and Intestinal Inflammation. Cell Reports. 17: 2955-2965. PMID 27974209 DOI: 10.1016/J.Celrep.2016.11.042  0.386
2016 Karczewski KJ, Weisburd B, Thomas B, Solomonson M, Ruderfer DM, Kavanagh D, Hamamsy T, Lek M, Samocha KE, Cummings BB, Birnbaum D, Daly MJ, MacArthur DG. The ExAC browser: displaying reference data information from over 60 000 exomes. Nucleic Acids Research. PMID 27899611 DOI: 10.1093/Nar/Gkw971  0.409
2016 Francioli LC, Cretu-Stancu M, Garimella KV, Fromer M, Kloosterman WP, Samocha KE, Neale BM, Daly MJ, Banks E, DePristo MA, de Bakker PI. A framework for the detection of de novo mutations in family-based sequencing data. European Journal of Human Genetics : Ejhg. PMID 27876817 DOI: 10.1038/Ejhg.2016.147  0.358
2016 Zou J, Valiant G, Valiant P, Karczewski K, Chan SO, Samocha K, Lek M, Sunyaev S, Daly M, MacArthur DG. Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects. Nature Communications. 7: 13293. PMID 27796292 DOI: 10.1038/Ncomms13293  0.387
2016 Germine L, Robinson EB, Smoller JW, Calkins ME, Moore TM, Hakonarson H, Daly MJ, Lee PH, Holmes AJ, Buckner RL, Gur RC, Gur RE. Association between polygenic risk for schizophrenia, neurocognition and social cognition across development. Translational Psychiatry. 6: e924. PMID 27754483 DOI: 10.1038/Tp.2016.147  0.333
2016 Ganna A, Genovese G, Howrigan DP, Byrnes A, Kurki MI, Zekavat SM, Whelan CW, Kals M, Nivard MG, Bloemendal A, Bloom JM, Goldstein JI, Poterba T, Seed C, Handsaker RE, ... ... Daly MJ, et al. Ultra-rare disruptive and damaging mutations influence educational attainment in the general population. Nature Neuroscience. PMID 27694993 DOI: 10.1038/Nn.4404  0.377
2016 Gormley P, Anttila V, Winsvold BS, Palta P, Esko T, Pers TH, Farh KH, Cuenca-Leon E, Muona M, Furlotte NA, Kurth T, Ingason A, McMahon G, Ligthart L, Terwindt GM, ... ... Daly MJ, et al. Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine. Nature Genetics. 48: 1296. PMID 27681292 DOI: 10.1038/Ng1016-1296C  0.373
2016 Peloquin JM, Goel G, Kong L, Huang H, Haritunians T, Sartor RB, Daly MJ, Newberry RD, McGovern DP, Yajnik V, Lira SA, Xavier RJ. Characterization of candidate genes in inflammatory bowel disease-associated risk loci. Jci Insight. 1: e87899. PMID 27668286 DOI: 10.1172/Jci.Insight.87899  0.418
2016 Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK, Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L, Brown JM, Caddle LB, Chiani F, ... ... Daly MJ, et al. High-throughput discovery of novel developmental phenotypes. Nature. PMID 27626380 DOI: 10.1038/Nature19356  0.382
2016 Wagner EK, Raychaudhuri S, Villalonga MB, Java A, Triebwasser MP, Daly MJ, Atkinson JP, Seddon JM. Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD. Scientific Reports. 6: 31531. PMID 27572114 DOI: 10.1038/Srep31531  0.578
2016 Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, ... ... Daly MJ, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 536: 285-291. PMID 27535533 DOI: 10.1038/Nature19057  0.597
2016 Ruderfer DM, Hamamsy T, Lek M, Karczewski KJ, Kavanagh D, Samocha KE, Daly MJ, MacArthur DG, Fromer M, Purcell SM. Patterns of genic intolerance of rare copy number variation in 59,898 human exomes. Nature Genetics. PMID 27533299 DOI: 10.1038/Ng.3638  0.446
2016 Rivas MA, Graham D, Sulem P, Stevens C, Desch AN, Goyette P, Gudbjartsson D, Jonsdottir I, Thorsteinsdottir U, Degenhardt F, Mucha S, Kurki MI, Li D, D'Amato M, Annese V, ... ... Daly MJ, et al. A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis. Nature Communications. 7: 12342. PMID 27503255 DOI: 10.1038/Ncomms12342  0.384
2016 Legge SE, Hamshere ML, Ripke S, Pardinas AF, Goldstein JI, Rees E, Richards AL, Leonenko G, Jorskog LF, Chambert KD, Collier DA, Genovese G, Giegling I, Holmans P, ... ... Daly MJ, et al. Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia. Molecular Psychiatry. PMID 27502474 DOI: 10.1038/mp.2016.137  0.321
2016 Li D, Achkar JP, Haritunians T, Jacobs JP, Hui KY, D'Amato M, Brand S, Radford-Smith G, Halfvarson J, Niess JH, Kugathasan S, Büning C, Schumm LP, Klei L, Ananthakrishnan A, ... ... Daly M, et al. A pleiotropic missense variant in SLC39A8 is associated with Crohn's disease and human gut microbiome composition. Gastroenterology. PMID 27492617 DOI: 10.1053/J.Gastro.2016.06.051  0.454
2016 Peloso GM, Lange LA, Varga TV, Nickerson DA, Smith JD, Griswold ME, Musani S, Polfus LM, Mei H, Gabriel S, Quarells RC, Altshuler D, Boerwinkle E, Daly MJ, Neale B, et al. Association of Exome Sequences with Cardiovascular Traits among African Americans in the Jackson Heart Study. Circulation. Cardiovascular Genetics. PMID 27422940 DOI: 10.1161/Circgenetics.116.001410  0.604
2016 Legge SE, Hamshere ML, Ripke S, Pardinas AF, Goldstein JI, Rees E, Richards AL, Leonenko G, Jorskog LF, Chambert KD, Collier DA, Genovese G, Giegling I, Holmans P, ... ... Daly MJ, et al. Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia. Molecular Psychiatry. PMID 27400856 DOI: 10.1038/Mp.2016.97  0.379
2016 Fuchsberger C, Flannick J, Teslovich TM, Mahajan A, Agarwala V, Gaulton KJ, Ma C, Fontanillas P, Moutsianas L, McCarthy DJ, Rivas MA, Perry JR, Sim X, Blackwell TW, Robertson NR, ... ... Daly MJ, et al. The genetic architecture of type 2 diabetes. Nature. PMID 27398621 DOI: 10.1038/Nature18642  0.685
2016 Chuang LS, Villaverde N, Hui KY, Mortha A, Rahman A, Levine AP, Haritunians T, Ng SM, Zhang W, Hsu NY, Facey JA, Luong T, Fernandez-Hernandez H, Li D, Rivas M, ... ... Daly MJ, et al. A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GMCSF. Gastroenterology. PMID 27377463 DOI: 10.1053/J.Gastro.2016.06.045  0.342
2016 Gormley P, Anttila V, Winsvold BS, Palta P, Esko T, Pers TH, Farh KH, Cuenca-Leon E, Muona M, Furlotte NA, Kurth T, Ingason A, McMahon G, Ligthart L, Terwindt GM, ... ... Daly MJ, et al. Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine. Nature Genetics. PMID 27322543 DOI: 10.1038/Ng.3598  0.475
2016 Choi J, Shooshtari P, Samocha KE, Daly MJ, Cotsapas C. Network Analysis of Genome-Wide Selective Constraint Reveals a Gene Network Active in Early Fetal Brain Intolerant of Mutation. Plos Genetics. 12: e1006121. PMID 27305007 DOI: 10.1371/Journal.Pgen.1006121  0.346
2016 Lassen KG, McKenzie CI, Mari M, Murano T, Begun J, Baxt LA, Goel G, Villablanca EJ, Kuo SY, Huang H, Macia L, Bhan AK, Batten M, Daly MJ, Reggiori F, et al. Genetic Coding Variant in GPR65 Alters Lysosomal pH and Links Lysosomal Dysfunction with Colitis Risk. Immunity. PMID 27287411 DOI: 10.1016/J.Immuni.2016.05.007  0.403
2016 Dordea AC, Vandenwijngaert S, Garcia V, Tainsh RE, Nathan DI, Allen K, Raher MJ, Tainsh LT, Zhang FF, Lieb WS, Mikelman S, Kirby A, Stevens C, Thoonen R, Hindle AG, ... ... Daly MJ, et al. ANDROGEN-SENSITIVE HYPERTENSION ASSOCIATED WITH SOLUBLE GUANYLATE CYCLASE ALPHA1 DEFICIENCY IS MEDIATED BY 20-HETE. American Journal of Physiology. Heart and Circulatory Physiology. ajpheart.00877.2015. PMID 27199131 DOI: 10.1152/Ajpheart.00877.2015  0.335
2016 Bodea CA, Neale BM, Ripke S, Daly MJ, Devlin B, Roeder K. A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies. American Journal of Human Genetics. PMID 27087321 DOI: 10.1016/J.Ajhg.2016.02.025  0.411
2016 Barrera LA, Vedenko A, Kurland JV, Rogers JM, Gisselbrecht SS, Rossin EJ, Woodard J, Mariani L, Kock KH, Inukai S, Siggers T, Shokri L, Gordân R, Sahni N, Cotsapas C, ... ... Daly MJ, et al. Survey of variation in human transcription factors reveals prevalent DNA binding changes. Science (New York, N.Y.). 351: 1450-4. PMID 27013732 DOI: 10.1126/Science.Aad2257  0.543
2016 Robinson EB, St Pourcain B, Anttila V, Kosmicki JA, Bulik-Sullivan B, Grove J, Maller J, Samocha KE, Sanders SJ, Ripke S, Martin J, Hollegaard MV, Werge T, Hougaard DM, ... ... Daly MJ, et al. Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population. Nature Genetics. PMID 26998691 DOI: 10.1038/Ng.3529  0.377
2016 Singh T, Kurki MI, Curtis D, Purcell SM, Crooks L, McRae J, Suvisaari J, Chheda H, Blackwood D, Breen G, Pietiläinen O, Gerety SS, Ayub M, Blyth M, Cole T, ... ... Daly MJ, et al. Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. Nature Neuroscience. PMID 26974950 DOI: 10.1038/Nn.4267  0.362
2016 Yu H, Artomov M, Brähler S, Stander MC, Shamsan G, Sampson MG, White JM, Kretzler M, Miner JH, Jain S, Winkler CA, Mitra RD, Kopp JB, Daly MJ, Shaw AS. A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis. The Journal of Clinical Investigation. PMID 26927868 DOI: 10.1172/Jci87342  0.327
2016 Yu H, Artomov M, Brähler S, Stander MC, Shamsan G, Sampson MG, White JM, Kretzler M, Miner JH, Jain S, Winkler CA, Mitra RD, Kopp JB, Daly MJ, Shaw AS. A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis. The Journal of Clinical Investigation. PMID 26901816 DOI: 10.1172/Jci82592  0.433
2016 Peloquin J, Goel G, Huang H, Haritunians T, Sartor R, Daly M, Newberry R, McGovern D, Lira S, Xavier R. O-002 Genes in IBD-Associated Risk Loci Demonstrate Genotype-, Tissue-, and Inflammation-Specific Patterns of Expression in Terminal Ileum and Colon Mucosal Tissue. Inflammatory Bowel Diseases. 22: S1. PMID 26849719 DOI: 10.1097/01.Mib.0000480040.50582.81  0.466
2016 Sekar A, Bialas AR, de Rivera H, Davis A, Hammond TR, Kamitaki N, Tooley K, Presumey J, Baum M, Van Doren V, Genovese G, Rose SA, Handsaker RE, Daly MJ, et al. Schizophrenia risk from complex variation of complement component 4. Nature. PMID 26814963 DOI: 10.1038/Nature16549  0.315
2016 Minikel EV, Vallabh SM, Lek M, Estrada K, Samocha KE, Sathirapongsasuti JF, McLean CY, Tung JY, Yu LP, Gambetti P, Blevins J, Zhang S, Cohen Y, Chen W, Yamada M, ... ... Daly MJ, et al. Quantifying prion disease penetrance using large population control cohorts. Science Translational Medicine. 8: 322ra9. PMID 26791950 DOI: 10.1126/Scitranslmed.Aad5169  0.438
2016 Vijai J, Topka S, Maxwell K, Ravichandran V, Thomas T, Villano D, Maria A, Gaddam P, Lincoln A, Hart S, Neuhausen S, Robson M, Weitzel J, Daly M, Nathanson K, et al. Abstract 796: ERCC3 R109X is a moderate risk breast cancer risk variant in Ashkenazi Jews Cancer Research. 76: 796-796. DOI: 10.1158/1538-7445.Am2016-796  0.333
2016 Hui K, Fernandez-Hernandez H, Hu J, Pankratz N, Rivas M, Carmi S, Haritunians T, Atzmon G, Brant S, Daly M, Duerr R, McGovern D, Ostrer H, Rioux J, Silverberg M, et al. P-175 Pleiotropic Effects of Novel Functional LRRK2 Variation on Crohnʼs Disease and Parkinsonʼs Disease Risk Inflammatory Bowel Diseases. 22: S62-S63. DOI: 10.1097/01.Mib.0000480302.17090.47  0.33
2016 Li D, Huang H, Haritunians T, Rabizadeh S, Daly MJ, Targan S, McGovern D. Su1855 Genetic Burden Analysis Identified Late-Onset Crohn's Disease(CD) As a Distinct Subgroup Characterized by Low Genetic Burden, UC-Like Serological Markers, Mild Clinical Phenotypes and High Proportion of Smoking Cessation at Diagnosis Gastroenterology. 150. DOI: 10.1016/S0016-5085(16)31954-0  0.356
2015 Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Jin SC, Deanfield J, Giardini A, Porter GA, Kim R, ... ... Daly M, et al. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science (New York, N.Y.). 350: 1262-6. PMID 26785492 DOI: 10.1126/Science.Aac9396  0.312
2015 Gymrek M, Willems T, Guilmatre A, Zeng H, Markus B, Georgiev S, Daly MJ, Price AL, Pritchard JK, Sharp AJ, Erlich Y. Abundant contribution of short tandem repeats to gene expression variation in humans. Nature Genetics. PMID 26642241 DOI: 10.1038/Ng.3461  0.817
2015 Cleynen I, Boucher G, Jostins L, Schumm LP, Zeissig S, Ahmad T, Andersen V, Andrews JM, Annese V, Brand S, Brant SR, Cho JH, Daly MJ, Dubinsky M, Duerr RH, et al. Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study. Lancet (London, England). PMID 26490195 DOI: 10.1016/S0140-6736(15)00465-1  0.378
2015 Ware JS, Samocha KE, Homsy J, Daly MJ. Interpreting de novo Variation in Human Disease Using denovolyzeR. Current Protocols in Human Genetics / Editorial Board, Jonathan L. Haines ... [Et Al.]. 87: 7.25.1-7.25.15. PMID 26439716 DOI: 10.1002/0471142905.Hg0725S87  0.414
2015 Vilhjálmsson BJ, Yang J, Finucane HK, Gusev A, Lindström S, Ripke S, Genovese G, Loh PR, Bhatia G, Do R, Hayeck T, Won HH, Kathiresan S, ... ... Daly M, et al. Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores. American Journal of Human Genetics. 97: 576-592. PMID 26430803 DOI: 10.1016/J.Ajhg.2015.09.001  0.312
2015 Finucane HK, Bulik-Sullivan B, Gusev A, Trynka G, Reshef Y, Loh PR, Anttila V, Xu H, Zang C, Farh K, Ripke S, Day FR, ... ... Daly MJ, et al. Partitioning heritability by functional annotation using genome-wide association summary statistics. Nature Genetics. PMID 26414678 DOI: 10.1038/Ng.3404  0.752
2015 Bulik-Sullivan B, Finucane HK, Anttila V, Gusev A, Day FR, Loh PR, Duncan L, Perry JR, Patterson N, Robinson EB, Daly MJ, Price AL, et al. An atlas of genetic correlations across human diseases and traits. Nature Genetics. PMID 26414676 DOI: 10.1038/Ng.3406  0.436
2015 Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S, Goldberg AP, Jinlu C, Keaney JF, Klei L, Mandell JD, ... ... Daly MJ, et al. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron. 87: 1215-1233. PMID 26402605 DOI: 10.1016/J.Neuron.2015.09.016  0.407
2015 Peloso GM, Rader DJ, Gabriel S, Kathiresan S, Daly MJ, Neale BM. Phenotypic extremes in rare variant study designs. European Journal of Human Genetics : Ejhg. PMID 26350511 DOI: 10.1038/Ejhg.2015.197  0.395
2015 Lee SH, Byrne EM, Hultman CM, Kähler A, Vinkhuyzen AA, Ripke S, Andreassen OA, Frisell T, Gusev A, Hu X, Karlsson R, Mantzioris VX, McGrath JJ, Mehta D, Stahl EA, ... ... Daly MJ, et al. New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis. International Journal of Epidemiology. PMID 26286434 DOI: 10.1093/Ije/Dyv136  0.687
2015 Kelsen JR, Dawany N, Moran CJ, Petersen BS, Sarmady M, Sasson A, Pauly-Hubbard H, Martinez A, Maurer K, Soong J, Rappaport E, Franke A, Keller A, Winter HS, Mamula P, ... ... Daly M, et al. Exome Sequencing Analysis Reveals Variants in Primary Immunodeficiency Genes in Patients With Very Early Onset Inflammatory Bowel Disease. Gastroenterology. PMID 26193622 DOI: 10.1053/J.Gastro.2015.07.006  0.383
2015 Liu JZ, van Sommeren S, Huang H, Ng SC, Alberts R, Takahashi A, Ripke S, Lee JC, Jostins L, Shah T, Abedian S, Cheon JH, Cho J, Daryani NE, Franke L, ... ... Daly MJ, et al. Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. Nature Genetics. PMID 26192919 DOI: 10.1038/Ng.3359  0.718
2015 Begun J, Lassen KG, Jijon HB, Baxt LA, Goel G, Heath RJ, Ng A, Tam JM, Kuo SY, Villablanca EJ, Fagbami L, Oosting M, Kumar V, Schenone M, Carr SA, ... ... Daly MJ, et al. Integrated Genomics of Crohn's Disease Risk Variant Identifies a Role for CLEC12A in Antibacterial Autophagy. Cell Reports. 11: 1905-18. PMID 26095365 DOI: 10.1016/J.Celrep.2015.05.045  0.401
2015 Rivas MA, Pirinen M, Conrad DF, Lek M, Tsang EK, Karczewski KJ, Maller JB, Kukurba KR, DeLuca DS, Fromer M, Ferreira PG, Smith KS, Zhang R, Zhao F, Banks E, ... ... Daly MJ, et al. Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome. Science (New York, N.Y.). 348: 666-9. PMID 25954003 DOI: 10.1126/Science.1261877  0.424
2015 Basak A, Hancarova M, Ulirsch JC, Balci TB, Trkova M, Pelisek M, Vlckova M, Muzikova K, Cermak J, Trka J, Dyment DA, Orkin SH, Daly MJ, Sedlacek Z, Sankaran VG. BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations. The Journal of Clinical Investigation. 125: 2363-8. PMID 25938782 DOI: 10.1172/Jci81163  0.361
2015 Migliavacca E, Golzio C, Männik K, Blumenthal I, Oh EC, Harewood L, Kosmicki JA, Loviglio MN, Giannuzzi G, Hippolyte L, Maillard AM, Alfaiz AA, van Haelst MM, Andrieux J, ... ... Daly MJ, et al. A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. American Journal of Human Genetics. 96: 784-96. PMID 25937446 DOI: 10.1016/J.Ajhg.2015.04.002  0.396
2015 Kavanagh D, Yu Y, Schramm EC, Triebwasser M, Wagner EK, Raychaudhuri S, Daly MJ, Atkinson JP, Seddon JM. Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels. Human Molecular Genetics. 24: 3861-70. PMID 25788521 DOI: 10.1093/Hmg/Ddv091  0.599
2015 Onengut-Gumuscu S, Chen WM, Burren O, Cooper NJ, Quinlan AR, Mychaleckyj JC, Farber E, Bonnie JK, Szpak M, Schofield E, Achuthan P, Guo H, Fortune MD, Stevens H, Walker NM, ... ... Daly MJ, et al. Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. Nature Genetics. 47: 381-6. PMID 25751624 DOI: 10.1038/Ng.3245  0.645
2015 Daly MJ. 2014 Curt Stern Award: A tryst with genetics. American Journal of Human Genetics. 96: 369-71. PMID 25748355 DOI: 10.1016/J.Ajhg.2014.12.028  0.314
2015 Grimm DG, Azencott CA, Aicheler F, Gieraths U, MacArthur DG, Samocha KE, Cooper DN, Stenson PD, Daly MJ, Smoller JW, Duncan LE, Borgwardt KM. The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity. Human Mutation. 36: 513-23. PMID 25684150 DOI: 10.1002/Humu.22768  0.307
2015 Bulik-Sullivan BK, Loh PR, Finucane HK, Ripke S, Yang J, Patterson N, Daly MJ, Price AL, Neale BM. LD Score regression distinguishes confounding from polygenicity in genome-wide association studies. Nature Genetics. 47: 291-5. PMID 25642630 DOI: 10.1038/Ng.3211  0.407
2015 Stitziel NO, Peloso GM, Abifadel M, Cefalu AB, Fouchier S, Motazacker MM, Tada H, Larach DB, Awan Z, Haller JF, Pullinger CR, Varret M, Rabès JP, Noto D, Tarugi P, ... ... Daly MJ, et al. Exome sequencing in suspected monogenic dyslipidemias. Circulation. Cardiovascular Genetics. 8: 343-50. PMID 25632026 DOI: 10.1161/Circgenetics.114.000776  0.338
2015 Murdoch JD, Gupta AR, Sanders SJ, Walker MF, Keaney J, Fernandez TV, Murtha MT, Anyanwu S, Ober GT, Raubeson MJ, DiLullo NM, Villa N, Waqar Z, Sullivan C, Gonzalez L, ... ... Daly MJ, et al. No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins. Plos Genetics. 11: e1004852. PMID 25621974 DOI: 10.1371/Journal.Pgen.1004852  0.426
2015 Betz RC, Petukhova L, Ripke S, Huang H, Menelaou A, Redler S, Becker T, Heilmann S, Yamany T, Duvic M, Hordinsky M, Norris D, Price VH, Mackay-Wiggan J, de Jong A, ... ... Daly MJ, et al. Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci. Nature Communications. 6: 5966. PMID 25608926 DOI: 10.1038/Ncomms6966  0.606
2015 Goyette P, Boucher G, Mallon D, Ellinghaus E, Jostins L, Huang H, Ripke S, Gusareva ES, Annese V, Hauser SL, Oksenberg JR, Thomsen I, Leslie S, ... ... Daly MJ, et al. High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis. Nature Genetics. 47: 172-9. PMID 25559196 DOI: 10.1038/Ng.3176  0.399
2015 Farh KK, Marson A, Zhu J, Kleinewietfeld M, Housley WJ, Beik S, Shoresh N, Whitton H, Ryan RJ, Shishkin AA, Hatan M, Carrasco-Alfonso MJ, Mayer D, Luckey CJ, Patsopoulos NA, ... ... Daly MJ, et al. Genetic and epigenetic fine mapping of causal autoimmune disease variants. Nature. 518: 337-43. PMID 25363779 DOI: 10.1038/Nature13835  0.614
2015 Robinson EB, Kirby A, Ruparel K, Yang J, McGrath L, Anttila V, Neale BM, Merikangas K, Lehner T, Sleiman PM, Daly MJ, Gur R, Gur R, Hakonarson H. The genetic architecture of pediatric cognitive abilities in the Philadelphia Neurodevelopmental Cohort. Molecular Psychiatry. 20: 454-8. PMID 25023143 DOI: 10.1038/Mp.2014.65  0.368
2014 Knights D, Silverberg MS, Weersma RK, Gevers D, Dijkstra G, Huang H, Tyler AD, van Sommeren S, Imhann F, Stempak JM, Huang H, Vangay P, Al-Ghalith GA, Russell C, Sauk J, ... ... Daly MJ, et al. Complex host genetics influence the microbiome in inflammatory bowel disease. Genome Medicine. 6: 107. PMID 25587358 DOI: 10.1186/S13073-014-0107-1  0.471
2014 Gusev A, Lee SH, Trynka G, Finucane H, Vilhjálmsson BJ, Xu H, Zang C, Ripke S, Bulik-Sullivan B, Stahl E, Kähler AK, Hultman CM, Purcell SM, ... ... Daly M, et al. Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. American Journal of Human Genetics. 95: 535-52. PMID 25439723 DOI: 10.1016/J.Ajhg.2014.10.004  0.769
2014 Lim ET, Liu YP, Chan Y, Tiinamaija T, Käräjämäki A, Madsen E, Altshuler DM, Raychaudhuri S, Groop L, Flannick J, Hirschhorn JN, Katsanis N, Daly MJ. A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity. American Journal of Human Genetics. 95: 509-20. PMID 25439097 DOI: 10.1016/J.Ajhg.2014.09.015  0.681
2014 De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, ... ... Daly MJ, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 515: 209-15. PMID 25363760 DOI: 10.1038/Nature13772  0.338
2014 Robinson EB, Samocha KE, Kosmicki JA, McGrath L, Neale BM, Perlis RH, Daly MJ. Autism spectrum disorder severity reflects the average contribution of de novo and familial influences. Proceedings of the National Academy of Sciences of the United States of America. 111: 15161-5. PMID 25288738 DOI: 10.1073/Pnas.1409204111  0.363
2014 Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, ... ... Daly MJ, et al. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. The Journal of Clinical Investigation. 124: 4693-708. PMID 25250574 DOI: 10.1172/Jci75199  0.3
2014 Ek WE, Reznichenko A, Ripke S, Niesler B, Zucchelli M, Rivera NV, Schmidt PT, Pedersen NL, Magnusson P, Talley NJ, Holliday EG, Houghton L, Gazouli M, Karamanolis G, Rappold G, ... ... Daly MJ, et al. Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts. Gut. PMID 25248455 DOI: 10.1136/Gutjnl-2014-307997  0.468
2014 Goldstein JI, Jarskog LF, Hilliard C, Alfirevic A, Duncan L, Fourches D, Huang H, Lek M, Neale BM, Ripke S, Shianna K, Szatkiewicz JP, Tropsha A, van den Oord EJ, Cascorbi I, ... ... Daly MJ, et al. Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. Nature Communications. 5: 4757. PMID 25187353 DOI: 10.1038/Ncomms5757  0.404
2014 Samocha KE, Robinson EB, Sanders SJ, Stevens C, Sabo A, McGrath LM, Kosmicki JA, Rehnström K, Mallick S, Kirby A, Wall DP, MacArthur DG, Gabriel SB, DePristo M, Purcell SM, ... ... Daly MJ, et al. A framework for the interpretation of de novo mutation in human disease. Nature Genetics. 46: 944-50. PMID 25086666 DOI: 10.1038/Ng.3050  0.339
2014 Lim ET, Würtz P, Havulinna AS, Palta P, Tukiainen T, Rehnström K, Esko T, Mägi R, Inouye M, Lappalainen T, Chan Y, Salem RM, Lek M, Flannick J, Sim X, ... ... Daly MJ, et al. Distribution and medical impact of loss-of-function variants in the Finnish founder population. Plos Genetics. 10: e1004494. PMID 25078778 DOI: 10.1371/Journal.Pgen.1004494  0.622
2014 Hutchinson JN, Fagerness J, Kirby A, Reynolds R, Zak A, Gimelbrant A, Plenge R, Daly M, Chess A, Seddon JM. (Epi)Genetic analyses of age-related macular degeneration: case-control and discordant twin studies. Human Heredity. 78: 59-72. PMID 25033836 DOI: 10.1159/000362814  0.336
2014 Lundby A, Rossin EJ, Steffensen AB, Acha MR, Newton-Cheh C, Pfeufer A, Lynch SN, Olesen SP, Brunak S, Ellinor PT, Jukema JW, Trompet S, Ford I, Macfarlane PW, ... ... Daly MJ, et al. Annotation of loci from genome-wide association studies using tissue-specific quantitative interaction proteomics. Nature Methods. 11: 868-74. PMID 24952909 DOI: 10.1038/Nmeth.2997  0.432
2014 Arking DE, Pulit SL, Crotti L, van der Harst P, Munroe PB, Koopmann TT, Sotoodehnia N, Rossin EJ, Morley M, Wang X, Johnson AD, Lundby A, Gudbjartsson DF, Noseworthy PA, Eijgelsheim M, ... ... Daly MJ, et al. Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. Nature Genetics. 46: 826-36. PMID 24952745 DOI: 10.1038/Ng.3014  0.803
2014 Hutchinson JN, Raj T, Fagerness J, Stahl E, Viloria FT, Gimelbrant A, Seddon J, Daly M, Chess A, Plenge R. Allele-specific methylation occurs at genetic variants associated with complex disease. Plos One. 9: e98464. PMID 24911414 DOI: 10.1371/Journal.Pone.0098464  0.488
2014 Gupta AR, Pirruccello M, Cheng F, Kang HJ, Fernandez TV, Baskin JM, Choi M, Liu L, Ercan-Sencicek AG, Murdoch JD, Klei L, Neale BM, Franjic D, Daly MJ, Lifton RP, et al. Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. Molecular Autism. 5: 31. PMID 24860643 DOI: 10.1186/2040-2392-5-31  0.317
2014 Yu Y, Triebwasser MP, Wong EK, Schramm EC, Thomas B, Reynolds R, Mardis ER, Atkinson JP, Daly M, Raychaudhuri S, Kavanagh D, Seddon JM. Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration. Human Molecular Genetics. 23: 5283-93. PMID 24847005 DOI: 10.1093/Hmg/Ddu226  0.559
2014 Lassen KG, Kuballa P, Conway KL, Patel KK, Becker CE, Peloquin JM, Villablanca EJ, Norman JM, Liu TC, Heath RJ, Becker ML, Fagbami L, Horn H, Mercer J, Yilmaz OH, ... ... Daly MJ, et al. Atg16L1 T300A variant decreases selective autophagy resulting in altered cytokine signaling and decreased antibacterial defense. Proceedings of the National Academy of Sciences of the United States of America. 111: 7741-6. PMID 24821797 DOI: 10.1073/Pnas.1407001111  0.378
2014 MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, ... Daly MJ, et al. Guidelines for investigating causality of sequence variants in human disease. Nature. 508: 469-76. PMID 24759409 DOI: 10.1038/Nature13127  0.585
2014 Chan Y, Lim ET, Sandholm N, Wang SR, McKnight AJ, Ripke S, Daly MJ, Neale BM, Salem RM, Hirschhorn JN. An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases. American Journal of Human Genetics. 94: 437-52. PMID 24607388 DOI: 10.1016/J.Ajhg.2014.02.006  0.431
2014 Fowler SA, Ananthakrishnan AN, Gardet A, Stevens CR, Korzenik JR, Sands BE, Daly MJ, Xavier RJ, Yajnik V. SMAD3 gene variant is a risk factor for recurrent surgery in patients with Crohn's disease. Journal of Crohn's & Colitis. 8: 845-51. PMID 24461721 DOI: 10.1016/J.Crohns.2014.01.003  0.324
2014 Zuk O, Schaffner SF, Samocha K, Do R, Hechter E, Kathiresan S, Daly MJ, Neale BM, Sunyaev SR, Lander ES. Searching for missing heritability: designing rare variant association studies. Proceedings of the National Academy of Sciences of the United States of America. 111: E455-64. PMID 24443550 DOI: 10.1073/Pnas.1322563111  0.614
2014 Schrader KA, Maxwell KN, Vijai J, Hart S, Thomas T, Wubbenhorst B, Guidugli L, Klein R, Corines M, Zhang L, Neuhausen S, Weitzel J, Gupta N, Norton L, Hudis C, ... ... Daly M, et al. Abstract 3282: Determination of cancer susceptibility in probands with breast and ovarian cancer Cancer Research. 74: 3282-3282. DOI: 10.1158/1538-7445.Am2014-3282  0.507
2014 Moran CJ, Kelsen JR, Kaplan JL, Baril-Dore M, Petit E, Al-Lawati T, Vais B, Xavier RJ, Kirschner BS, Baldassano R, Winter H, Daly MJ. 718 Whole Exome Sequencing in Cohort of Very Early Onset Inflammatory Bowel Disease Gastroenterology. 146. DOI: 10.1016/S0016-5085(14)60450-9  0.314
2014 Ghaoui R, Corbett A, Needham M, Farrar M, Sampaio H, Mowat D, Rajagopalan S, Liang C, Kaur S, Waddell L, Daly K, Thomas BP, Lek M, Daly MJ, North KN, et al. G.P.219: Diagnosing the limb-girdle muscular dystrophies using whole exome sequencing: An Australian cohort Neuromuscular Disorders. 24: 882-883. DOI: 10.1016/J.Nmd.2014.06.295  0.398
2013 Pinto RM, Dragileva E, Kirby A, Lloret A, Lopez E, St Claire J, Panigrahi GB, Hou C, Holloway K, Gillis T, Guide JR, Cohen PE, Li GM, Pearson CE, Daly MJ, et al. Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches. Plos Genetics. 9: e1003930. PMID 24204323 DOI: 10.1371/Journal.Pgen.1003930  0.374
2013 Do R, Willer CJ, Schmidt EM, Sengupta S, Gao C, Peloso GM, Gustafsson S, Kanoni S, Ganna A, Chen J, Buchkovich ML, Mora S, Beckmann JS, Bragg-Gresham JL, Chang HY, ... ... Daly MJ, et al. Common variants associated with plasma triglycerides and risk for coronary artery disease. Nature Genetics. 45: 1345-52. PMID 24097064 DOI: 10.1038/Ng.2795  0.524
2013 Poultney CS, Goldberg AP, Drapeau E, Kou Y, Harony-Nicolas H, Kajiwara Y, De Rubeis S, Durand S, Stevens C, Rehnström K, Palotie A, Daly MJ, Ma'ayan A, Fromer M, Buxbaum JD. Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. American Journal of Human Genetics. 93: 607-19. PMID 24094742 DOI: 10.1016/J.Ajhg.2013.09.001  0.415
2013 Beaudoin M, Goyette P, Boucher G, Lo KS, Rivas MA, Stevens C, Alikashani A, Ladouceur M, Ellinghaus D, Törkvist L, Goel G, Lagacé C, Annese V, Bitton A, Begun J, ... ... Daly MJ, et al. Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis. Plos Genetics. 9: e1003723. PMID 24068945 DOI: 10.1371/Journal.Pgen.1003723  0.495
2013 Seddon JM, Yu Y, Miller EC, Reynolds R, Tan PL, Gowrisankar S, Goldstein JI, Triebwasser M, Anderson HE, Zerbib J, Kavanagh D, Souied E, Katsanis N, Daly MJ, Atkinson JP, et al. Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration. Nature Genetics. 45: 1366-70. PMID 24036952 DOI: 10.1038/Ng.2741  0.578
2013 Shah S, Schrader KA, Waanders E, Timms AE, Vijai J, Miething C, Wechsler J, Yang J, Hayes J, Klein RJ, Zhang J, Wei L, Wu G, Rusch M, Nagahawatte P, ... ... Daly M, et al. A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nature Genetics. 45: 1226-31. PMID 24013638 DOI: 10.1038/Ng.2754  0.516
2013 He X, Sanders SJ, Liu L, De Rubeis S, Lim ET, Sutcliffe JS, Schellenberg GD, Gibbs RA, Daly MJ, Buxbaum JD, State MW, Devlin B, Roeder K. Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. Plos Genetics. 9: e1003671. PMID 23966865 DOI: 10.1371/Journal.Pgen.1003671  0.407
2013 Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, ... ... Daly MJ, et al. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics. 45: 984-94. PMID 23933821 DOI: 10.1038/Ng.2711  0.509
2013 Stoll G, Pietiläinen OP, Linder B, Suvisaari J, Brosi C, Hennah W, Leppä V, Torniainen M, Ripatti S, Ala-Mello S, Plöttner O, Rehnström K, Tuulio-Henriksson A, Varilo T, Tallila J, ... ... Daly MJ, et al. Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders. Nature Neuroscience. 16: 1228-37. PMID 23912948 DOI: 10.1038/Nn.3484  0.322
2013 Anttila V, Winsvold BS, Gormley P, Kurth T, Bettella F, McMahon G, Kallela M, Malik R, de Vries B, Terwindt G, Medland SE, Todt U, McArdle WL, Quaye L, Koiranen M, ... ... Daly MJ, et al. Genome-wide meta-analysis identifies new susceptibility loci for migraine. Nature Genetics. 45: 912-7. PMID 23793025 DOI: 10.1038/Ng.2676  0.45
2013 Schafer CM, Campbell NG, Cai G, Yu F, Makarov V, Yoon S, Daly MJ, Gibbs RA, Schellenberg GD, Devlin B, Sutcliffe JS, Buxbaum JD, Roeder K. Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA. Genomics. 102: 270-7. PMID 23743231 DOI: 10.1016/J.Ygeno.2013.05.005  0.302
2013 Margolin DH, Kousi M, Chan YM, Lim ET, Schmahmann JD, Hadjivassiliou M, Hall JE, Adam I, Dwyer A, Plummer L, Aldrin SV, O'Rourke J, Kirby A, Lage K, Milunsky A, ... ... Daly MJ, et al. Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. The New England Journal of Medicine. 368: 1992-2003. PMID 23656588 DOI: 10.1056/Nejmoa1215993  0.343
2013 Hatoum IJ, Greenawalt DM, Cotsapas C, Daly MJ, Reitman ML, Kaplan LM. Weight loss after gastric bypass is associated with a variant at 15q26.1. American Journal of Human Genetics. 92: 827-34. PMID 23643386 DOI: 10.1016/J.Ajhg.2013.04.009  0.317
2013 Ellinghaus D, Zhang H, Zeissig S, Lipinski S, Till A, Jiang T, Stade B, Bromberg Y, Ellinghaus E, Keller A, Rivas MA, Skieceviciene J, Doncheva NT, Liu X, Liu Q, ... ... Daly MJ, et al. Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies. Gastroenterology. 145: 339-47. PMID 23624108 DOI: 10.1053/J.Gastro.2013.04.040  0.366
2013 Giallourakis CC, Benita Y, Molinie B, Cao Z, Despo O, Pratt HE, Zukerberg LR, Daly MJ, Rioux JD, Xavier RJ. Genome-wide analysis of immune system genes by expressed sequence Tag profiling. Journal of Immunology (Baltimore, Md. : 1950). 190: 5578-87. PMID 23616578 DOI: 10.4049/Jimmunol.1203471  0.326
2013 Liu L, Sabo A, Neale BM, Nagaswamy U, Stevens C, Lim E, Bodea CA, Muzny D, Reid JG, Banks E, Coon H, Depristo M, Dinh H, Fennel T, Flannick J, ... ... Daly MJ, et al. Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. Plos Genetics. 9: e1003443. PMID 23593035 DOI: 10.1371/Journal.Pgen.1003443  0.409
2013 Bahl S, Chiang C, Beauchamp RL, Neale BM, Daly MJ, Gusella JF, Talkowski ME, Ramesh V. Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder. Molecular Autism. 4: 5. PMID 23514105 DOI: 10.1186/2040-2392-4-5  0.395
2013 Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, Thorleifsson G, Zack DJ, Arakawa S, Cipriani V, Ripke S, Igo RP, Buitendijk GH, Sim X, Weeks DE, Guymer RH, ... ... Daly MJ, et al. Seven new loci associated with age-related macular degeneration. Nature Genetics. 45: 433-9, 439e1-2. PMID 23455636 DOI: 10.1038/Ng.2578  0.46
2013 Kirby A, Gnirke A, Jaffe DB, Barešová V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, ... ... Daly MJ, et al. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nature Genetics. 45: 299-303. PMID 23396133 DOI: 10.1038/Ng.2543  0.541
2013 Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, ... ... Daly MJ, et al. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron. 77: 235-42. PMID 23352160 DOI: 10.1016/J.Neuron.2012.12.029  0.657
2013 Huyghe JR, Jackson AU, Fogarty MP, Buchkovich ML, Stančáková A, Stringham HM, Sim X, Yang L, Fuchsberger C, Cederberg H, Chines PS, Teslovich TM, Romm JM, Ling H, McMullen I, ... ... Daly MJ, et al. Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion. Nature Genetics. 45: 197-201. PMID 23263489 DOI: 10.1038/Ng.2507  0.406
2013 Neumann H, Daly MJ. Variant TREM2 as risk factor for Alzheimer's disease. The New England Journal of Medicine. 368: 182-4. PMID 23151315 DOI: 10.1056/Nejme1213157  0.379
2013 Ripke S, Wray NR, Lewis CM, Hamilton SP, Weissman MM, Breen G, Byrne EM, Blackwood DH, Boomsma DI, Cichon S, Heath AC, Holsboer F, Lucae S, Madden PA, ... ... Daly M, et al. A mega-analysis of genome-wide association studies for major depressive disorder. Molecular Psychiatry. 18: 497-511. PMID 22472876 DOI: 10.1038/Mp.2012.21  0.424
2013 Lek M, Clarke N, Waddell L, Thomas B, DePristo M, Daly M, North K, MacArthur D. O.18 Systematic identification of causal mutations in Mendelian disorders using exome sequence data Neuromuscular Disorders. 23: 850. DOI: 10.1016/J.Nmd.2013.06.728  0.384
2012 Buxbaum JD, Daly MJ, Devlin B, Lehner T, Roeder K, State MW. The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders. Neuron. 76: 1052-6. PMID 23259942 DOI: 10.1016/J.Neuron.2012.12.008  0.342
2012 Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, Lee JC, Schumm LP, Sharma Y, Anderson CA, Essers J, Mitrovic M, Ning K, Cleynen I, Theatre E, ... ... Daly MJ, et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature. 491: 119-24. PMID 23128233 DOI: 10.1038/Nature11582  0.748
2012 Haas JT, Winter HS, Lim E, Kirby A, Blumenstiel B, DeFelice M, Gabriel S, Jalas C, Branski D, Grueter CA, Toporovski MS, Walther TC, Daly MJ, Farese RV. DGAT1 mutation is linked to a congenital diarrheal disorder. The Journal of Clinical Investigation. 122: 4680-4. PMID 23114594 DOI: 10.1172/Jci64873  0.314
2012 Hu X, Daly M. What have we learned from six years of GWAS in autoimmune diseases, and what is next? Current Opinion in Immunology. 24: 571-5. PMID 23017373 DOI: 10.1016/J.Coi.2012.09.001  0.673
2012 Lage K, Greenway SC, Rosenfeld JA, Wakimoto H, Gorham JM, Segrè AV, Roberts AE, Smoot LB, Pu WT, Pereira AC, Mesquita SM, Tommerup N, Brunak S, Ballif BC, Shaffer LG, ... ... Daly MJ, et al. Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development. Proceedings of the National Academy of Sciences of the United States of America. 109: 14035-40. PMID 22904188 DOI: 10.1073/Pnas.1210730109  0.337
2012 Goldstein JI, Crenshaw A, Carey J, Grant GB, Maguire J, Fromer M, O'Dushlaine C, Moran JL, Chambert K, Stevens C, Sklar P, Hultman CM, Purcell S, ... ... Daly MJ, et al. zCall: a rare variant caller for array-based genotyping: genetics and population analysis. Bioinformatics (Oxford, England). 28: 2543-5. PMID 22843986 DOI: 10.1093/Bioinformatics/Bts479  0.374
2012 Sullivan PF, Daly MJ, O'Donovan M. Genetic architectures of psychiatric disorders: the emerging picture and its implications. Nature Reviews. Genetics. 13: 537-51. PMID 22777127 DOI: 10.1038/Nrg3240  0.314
2012 Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB, Cotman SL. A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. American Journal of Human Genetics. 91: 202-8. PMID 22748208 DOI: 10.1016/J.Ajhg.2012.05.023  0.368
2012 Sobrin L, Ripke S, Yu Y, Fagerness J, Bhangale TR, Tan PL, Souied EH, Buitendijk GH, Merriam JE, Richardson AJ, Raychaudhuri S, Reynolds R, Chin KA, Lee AY, Leveziel N, ... ... Daly MJ, et al. Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. Ophthalmology. 119: 1874-85. PMID 22705344 DOI: 10.1016/J.Ophtha.2012.03.014  0.601
2012 Pasaniuc B, Rohland N, McLaren PJ, Garimella K, Zaitlen N, Li H, Gupta N, Neale BM, Daly MJ, Sklar P, Sullivan PF, Bergen S, Moran JL, Hultman CM, Lichtenstein P, et al. Extremely low-coverage sequencing and imputation increases power for genome-wide association studies. Nature Genetics. 44: 631-5. PMID 22610117 DOI: 10.1038/Ng.2283  0.438
2012 Voight BF, Peloso GM, Orho-Melander M, Frikke-Schmidt R, Barbalic M, Jensen MK, Hindy G, Hólm H, Ding EL, Johnson T, Schunkert H, Samani NJ, Clarke R, Hopewell JC, Thompson JF, ... ... Daly MJ, et al. Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet. 380: 572-80. PMID 22607825 DOI: 10.1016/S0140-6736(12)60312-2  0.475
2012 Buys ES, Raher MJ, Kirby A, Shahid M, Mohd S, Baron DM, Hayton SR, Tainsh LT, Sips PY, Rauwerdink KM, Yan Q, Tainsh RE, Shakartzi HR, Stevens C, Decaluwé K, ... ... Daly MJ, et al. Genetic modifiers of hypertension in soluble guanylate cyclase α1-deficient mice. The Journal of Clinical Investigation. 122: 2316-25. PMID 22565307 DOI: 10.1172/Jci60119  0.319
2012 Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren AM, Pereira S, Ruderfer D, Kirby A, Ripke S, Harris DJ, ... ... Daly MJ, et al. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell. 149: 525-37. PMID 22521361 DOI: 10.1016/J.Cell.2012.03.028  0.42
2012 Ameur A, Enroth S, Johansson A, Zaboli G, Igl W, Johansson AC, Rivas MA, Daly MJ, Schmitz G, Hicks AA, Meitinger T, Feuk L, van Duijn C, Oostra B, Pramstaller PP, et al. Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids. American Journal of Human Genetics. 90: 809-20. PMID 22503634 DOI: 10.1016/J.Ajhg.2012.03.014  0.352
2012 Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, ... ... Daly MJ, et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 485: 242-5. PMID 22495311 DOI: 10.1038/Nature11011  0.376
2012 Dastani Z, Hivert MF, Timpson N, Perry JR, Yuan X, Scott RA, Henneman P, Heid IM, Kizer JR, Lyytikäinen LP, Fuchsberger C, Tanaka T, Morris AP, Small K, Isaacs A, ... ... Daly MJ, et al. Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. Plos Genetics. 8: e1002607. PMID 22479202 DOI: 10.1371/Journal.Pgen.1002607  0.66
2012 Chiang C, Jacobsen JC, Ernst C, Hanscom C, Heilbut A, Blumenthal I, Mills RE, Kirby A, Lindgren AM, Rudiger SR, McLaughlan CJ, Bawden CS, Reid SJ, Faull RL, Snell RG, ... ... Daly MJ, et al. Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. Nature Genetics. 44: 390-7, S1. PMID 22388000 DOI: 10.1038/Ng.2202  0.341
2012 Zwemer LM, Zak A, Thompson BR, Kirby A, Daly MJ, Chess A, Gimelbrant AA. Autosomal monoallelic expression in the mouse. Genome Biology. 13: R10. PMID 22348269 DOI: 10.1186/Gb-2012-13-2-R10  0.378
2012 Yu Y, Reynolds R, Rosner B, Daly MJ, Seddon JM. Prospective assessment of genetic effects on progression to different stages of age-related macular degeneration using multistate Markov models. Investigative Ophthalmology & Visual Science. 53: 1548-56. PMID 22247473 DOI: 10.1167/Iovs.11-8657  0.387
2012 Palmer ND, McDonough CW, Hicks PJ, Roh BH, Wing MR, An SS, Hester JM, Cooke JN, Bostrom MA, Rudock ME, Talbert ME, Lewis JP, Ferrara A, ... ... Daly MJ, et al. A genome-wide association search for type 2 diabetes genes in African Americans. Plos One. 7: e29202. PMID 22238593 DOI: 10.1371/Journal.Pone.0029202  0.7
2012 De Jager PL, Shulman JM, Chibnik LB, Keenan BT, Raj T, Wilson RS, Yu L, Leurgans SE, Tran D, Aubin C, Anderson CD, Biffi A, Corneveaux JJ, Huentelman MJ, ... ... Daly MJ, et al. A genome-wide scan for common variants affecting the rate of age-related cognitive decline. Neurobiology of Aging. 33: 1017.e1-15. PMID 22054870 DOI: 10.1016/J.Neurobiolaging.2011.09.033  0.363
2012 Shen Y, Nicoletti P, Floratos A, Pirmohamed M, Molokhia M, Geppetti P, Benemei S, Giomi B, Schena D, Vultaggio A, Stern R, Daly MJ, John S, Nelson MR, Pe'er I, et al. Genome-wide association study of serious blistering skin rash caused by drugs. The Pharmacogenomics Journal. 12: 96-104. PMID 21221126 DOI: 10.1038/Tpj.2010.84  0.441
2012 Fagerness JA, Yu Y, Maller JB, Neale BM, Reynolds RC, Daly MJ, Seddon JM. Reply to Cipriani et al European Journal of Human Genetics. 20: 3-3. DOI: 10.1038/Ejhg.2011.177  0.391
2011 Hu X, Kim H, Stahl E, Plenge R, Daly M, Raychaudhuri S. Integrating Autoimmune Risk Loci with Gene-Expression Data Identifies Specific Pathogenic Immune Cell Subsets. American Journal of Human Genetics. 89: 682. PMID 27880885 DOI: 10.1016/j.ajhg.2011.10.010  0.456
2011 Raychaudhuri S, Iartchouk O, Chin K, Tan PL, Tai AK, Ripke S, Gowrisankar S, Vemuri S, Montgomery K, Yu Y, Reynolds R, Zack DJ, Campochiaro B, Campochiaro P, Katsanis N, ... Daly MJ, et al. A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nature Genetics. 43: 1232-6. PMID 22019782 DOI: 10.1038/Ng.976  0.572
2011 Rivas MA, Beaudoin M, Gardet A, Stevens C, Sharma Y, Zhang CK, Boucher G, Ripke S, Ellinghaus D, Burtt N, Fennell T, Kirby A, Latiano A, Goyette P, Green T, ... ... Daly MJ, et al. Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nature Genetics. 43: 1066-73. PMID 21983784 DOI: 10.1038/Ng.952  0.643
2011 Hu X, Kim H, Stahl E, Plenge R, Daly M, Raychaudhuri S. Integrating autoimmune risk loci with gene-expression data identifies specific pathogenic immune cell subsets. American Journal of Human Genetics. 89: 496-506. PMID 21963258 DOI: 10.1016/J.Ajhg.2011.09.002  0.735
2011 Seddon JM, Reynolds R, Yu Y, Daly MJ, Rosner B. Risk models for progression to advanced age-related macular degeneration using demographic, environmental, genetic, and ocular factors. Ophthalmology. 118: 2203-11. PMID 21959373 DOI: 10.1016/J.Ophtha.2011.04.029  0.342
2011 Sklar P, Ripke S, Scott LJ, Andreassen OA, Cichon S, Craddock N, Edenberg HJ, Nurnberger JI, Rietschel M, Blackwood D, Corvin A, Flickinger M, Guan W, Mattingsdal M, McQuillin A, ... ... Daly M, et al. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4 Nature Genetics. 43: 977-985. PMID 21926972 DOI: 10.1038/Ng.943  0.567
2011 Marth GT, Yu F, Indap AR, Garimella K, Gravel S, Leong WF, Tyler-Smith C, Bainbridge M, Blackwell T, Zheng-Bradley X, Chen Y, Challis D, Clarke L, Ball EV, Cibulskis K, ... ... Daly M, et al. The functional spectrum of low-frequency coding variation. Genome Biology. 12: R84. PMID 21917140 DOI: 10.1186/Gb-2011-12-9-R84  0.588
2011 Sobrin L, Green T, Sim X, Jensen RA, Tai ES, Tay WT, Wang JJ, Mitchell P, Sandholm N, Liu Y, Hietala K, Iyengar SK, Brooks M, Buraczynska M, ... ... Daly MJ, et al. Candidate gene association study for diabetic retinopathy in persons with type 2 diabetes: the Candidate gene Association Resource (CARe). Investigative Ophthalmology & Visual Science. 52: 7593-602. PMID 21873659 DOI: 10.1167/Iovs.11-7510  0.313
2011 Cotsapas C, Voight BF, Rossin E, Lage K, Neale BM, Wallace C, Abecasis GR, Barrett JC, Behrens T, Cho J, De Jager PL, Elder JT, Graham RR, Gregersen P, Klareskog L, ... ... Daly MJ, et al. Pervasive sharing of genetic effects in autoimmune disease. Plos Genetics. 7: e1002254. PMID 21852963 DOI: 10.1371/Journal.Pgen.1002254  0.454
2011 Sawcer S, Hellenthal G, Pirinen M, Spencer CC, Patsopoulos NA, Moutsianas L, Dilthey A, Su Z, Freeman C, Hunt SE, Edkins S, Gray E, Booth DR, ... ... Daly MJ, et al. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature. 476: 214-9. PMID 21833088 DOI: 10.1038/Nature10251  0.483
2011 Shea J, Agarwala V, Philippakis AA, Maguire J, Banks E, Depristo M, Thomson B, Guiducci C, Onofrio RC, Kathiresan S, Gabriel S, Burtt NP, Daly MJ, Groop L, Altshuler D, et al. Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction. Nature Genetics. 43: 801-5. PMID 21775993 DOI: 10.1038/Ng.871  0.605
2011 Conrad DF, Keebler JE, DePristo MA, Lindsay SJ, Zhang Y, Casals F, Idaghdour Y, Hartl CL, Torroja C, Garimella KV, Zilversmit M, Cartwright R, Rouleau GA, Daly M, Stone EA, et al. Variation in genome-wide mutation rates within and between human families. Nature Genetics. 43: 712-4. PMID 21666693 DOI: 10.1038/Ng.862  0.3
2011 Yu Y, Bhangale TR, Fagerness J, Ripke S, Thorleifsson G, Tan PL, Souied EH, Richardson AJ, Merriam JE, Buitendijk GH, Reynolds R, Raychaudhuri S, Chin KA, Sobrin L, Evangelou E, ... ... Daly MJ, et al. Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. Human Molecular Genetics. 20: 3699-709. PMID 21665990 DOI: 10.1093/Hmg/Ddr270  0.586
2011 Im KM, Kirchhoff T, Wang X, Green T, Chow CY, Vijai J, Korn J, Gaudet MM, Fredericksen Z, Shane Pankratz V, Guiducci C, Crenshaw A, McGuffog L, Kartsonaki C, Morrison J, ... ... Daly MB, ... ... Daly MJ, et al. Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers. Human Genetics. 130: 685-99. PMID 21597964 DOI: 10.1007/S00439-011-1003-Z  0.555
2011 DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, ... ... Daly MJ, et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nature Genetics. 43: 491-8. PMID 21478889 DOI: 10.1038/Ng.806  0.582
2011 Talkowski ME, Ernst C, Heilbut A, Chiang C, Hanscom C, Lindgren A, Kirby A, Liu S, Muddukrishna B, Ohsumi TK, Shen Y, Borowsky M, Daly MJ, Morton CC, Gusella JF. Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research. American Journal of Human Genetics. 88: 469-81. PMID 21473983 DOI: 10.1016/J.Ajhg.2011.03.013  0.397
2011 Yu Y, Reynolds R, Fagerness J, Rosner B, Daly MJ, Seddon JM. Association of variants in the LIPC and ABCA1 genes with intermediate and large drusen and advanced age-related macular degeneration. Investigative Ophthalmology & Visual Science. 52: 4663-70. PMID 21447678 DOI: 10.1167/Iovs.10-7070  0.357
2011 Neale BM, Rivas MA, Voight BF, Altshuler D, Devlin B, Orho-Melander M, Kathiresan S, Purcell SM, Roeder K, Daly MJ. Testing for an unusual distribution of rare variants. Plos Genetics. 7: e1001322. PMID 21408211 DOI: 10.1371/Journal.Pgen.1001322  0.547
2011 Festen EA, Goyette P, Green T, Boucher G, Beauchamp C, Trynka G, Dubois PC, Lagacé C, Stokkers PC, Hommes DW, Barisani D, Palmieri O, Annese V, van Heel DA, Weersma RK, ... Daly MJ, et al. A meta-analysis of genome-wide association scans identifies IL18RAP, PTPN2, TAGAP, and PUS10 as shared risk loci for Crohn's disease and celiac disease. Plos Genetics. 7: e1001283. PMID 21298027 DOI: 10.1371/Journal.Pgen.1001283  0.702
2011 Anderson CA, Boucher G, Lees CW, Franke A, D'Amato M, Taylor KD, Lee JC, Goyette P, Imielinski M, Latiano A, Lagacé C, Scott R, Amininejad L, Bumpstead S, Baidoo L, ... ... Daly MJ, et al. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nature Genetics. 43: 246-52. PMID 21297633 DOI: 10.1038/Ng.764  0.728
2011 Rossin EJ, Lage K, Raychaudhuri S, Xavier RJ, Tatar D, Benita Y, Cotsapas C, Daly MJ. Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology. Plos Genetics. 7: e1001273. PMID 21249183 DOI: 10.1371/Journal.Pgen.1001273  0.603
2011 Sobrin L, Reynolds R, Yu Y, Fagerness J, Leveziel N, Bernstein PS, Souied EH, Daly MJ, Seddon JM. ARMS2/HTRA1 locus can confer differential susceptibility to the advanced subtypes of age-related macular degeneration. American Journal of Ophthalmology. 151: 345-52.e3. PMID 21122828 DOI: 10.1016/J.Ajo.2010.08.015  0.409
2011 Kenny EE, Kim M, Gusev A, Lowe JK, Salit J, Smith JG, Kovvali S, Kang HM, Newton-Cheh C, Daly MJ, Stoffel M, Altshuler DM, Friedman JM, Eskin E, Breslow JL, et al. Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population. Human Molecular Genetics. 20: 827-39. PMID 21118897 DOI: 10.1093/Hmg/Ddq510  0.614
2011 Essers J, Ripke S, Neale B, Xavier R, Targan S, Vu M, Rotter J, Dubinsky M, McGovern D, Daly M. An accurate and reproducible discrimination tool for inflammatory bowel disease subtype using genetics, serologies, and smoking status Inflammatory Bowel Diseases. 17: S1. DOI: 10.1097/00054725-201112002-00002  0.312
2011 Anderson CA, Boucher G, Lees CW, Franke A, D'Amato M, Taylor KD, Lee JC, Goyette P, Imielinski M, Latiano A, Lagacé C, Scott R, Amininejad L, Bumpstead S, Baidoo L, ... ... Daly MJ, et al. Erratum: Corrigendum: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 Nature Genetics. 43: 919-919. DOI: 10.1038/Ng0911-919B  0.665
2011 McGovern DPB, Gardet A, Törkvist L, Goyette P, Essers J, Taylor KD, Neale BM, Ong RTH, Lagace C, Li C, Green T, Stevens CR, Beauchamp C, Fleshner PR, Carlson M, ... ... Daly MJ, et al. Genome-wide association identifies multiple ulcerative colitis susceptibility loci (vol 42, pg 332, 2010) Nature Genetics. 43: 388-388. DOI: 10.1038/Ng0411-388C  0.444
2011 Essers JB, Cole EB, Dubinsky M, Haritunians T, Korzenik JR, McGovern DP, Sands BE, Targan SR, Taylor KD, Teleten N, Xavier RJ, Daly MJ, Rotter JI, Silverberg MS. The Utility of Genetics in Classifying Ulcerative Colitis and Crohn's Disease Patients Gastroenterology. 140. DOI: 10.1016/S0016-5085(11)61074-3  0.343
2010 Franke A, McGovern DP, Barrett JC, Wang K, Radford-Smith GL, Ahmad T, Lees CW, Balschun T, Lee J, Roberts R, Anderson CA, Bis JC, Bumpstead S, Ellinghaus D, Festen EM, ... ... Daly MJ, et al. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nature Genetics. 42: 1118-25. PMID 21102463 DOI: 10.1038/Ng.717  0.633
2010 Gaudet MM, Kirchhoff T, Green T, Vijai J, Korn JM, Guiducci C, Segrè AV, McGee K, McGuffog L, Kartsonaki C, Morrison J, Healey S, Sinilnikova OM, Stoppa-Lyonnet D, Mazoyer S, ... ... Daly MB, ... ... Daly MJ, et al. Common genetic variants and modification of penetrance of BRCA2-associated breast cancer. Plos Genetics. 6: e1001183. PMID 21060860 DOI: 10.1371/Journal.Pgen.1001183  0.575
2010 Musunuru K, Pirruccello JP, Do R, Peloso GM, Guiducci C, Sougnez C, Garimella KV, Fisher S, Abreu J, Barry AJ, Fennell T, Banks E, Ambrogio L, Cibulskis K, Kernytsky A, ... ... Daly MJ, et al. Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. The New England Journal of Medicine. 363: 2220-7. PMID 20942659 DOI: 10.1056/Nejmoa1002926  0.52
2010 Assimes TL, Hólm H, Kathiresan S, Reilly MP, Thorleifsson G, Voight BF, Erdmann J, Willenborg C, Vaidya D, Xie C, Patterson CC, Morgan TM, Burnett MS, Li M, Hlatky MA, ... ... Daly MJ, et al. Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies. Journal of the American College of Cardiology. 56: 1552-63. PMID 20933357 DOI: 10.1016/J.Jacc.2010.06.022  0.568
2010 Gardet A, Benita Y, Li C, Sands BE, Ballester I, Stevens C, Korzenik JR, Rioux JD, Daly MJ, Xavier RJ, Podolsky DK. LRRK2 is involved in the IFN-gamma response and host response to pathogens. Journal of Immunology (Baltimore, Md. : 1950). 185: 5577-85. PMID 20921534 DOI: 10.4049/Jimmunol.1000548  0.308
2010 Raychaudhuri S, Korn JM, McCarroll SA, Altshuler D, Sklar P, Purcell S, Daly MJ. Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function. Plos Genetics. 6: e1001097. PMID 20838587 DOI: 10.1371/Journal.Pgen.1001097  0.642
2010 Calvo SE, Tucker EJ, Compton AG, Kirby DM, Crawford G, Burtt NP, Rivas M, Guiducci C, Bruno DL, Goldberger OA, Redman MC, Wiltshire E, Wilson CJ, Altshuler D, Gabriel SB, ... Daly MJ, et al. High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nature Genetics. 42: 851-8. PMID 20818383 DOI: 10.1038/Ng.659  0.679
2010 Altshuler DM, Gibbs RA, Peltonen L, Altshuler DM, Gibbs RA, Peltonen L, Dermitzakis E, Schaffner SF, Yu F, Peltonen L, Dermitzakis E, Bonnen PE, Altshuler DM, Gibbs RA, ... ... Daly MJ, et al. Integrating common and rare genetic variation in diverse human populations. Nature. 467: 52-8. PMID 20811451 DOI: 10.1038/Nature09298  0.636
2010 Surakka I, Kristiansson K, Anttila V, Inouye M, Barnes C, Moutsianas L, Salomaa V, Daly M, Palotie A, Peltonen L, Ripatti S. Founder population-specific HapMap panel increases power in GWA studies through improved imputation accuracy and CNV tagging Genome Research. 20: 1344-1351. PMID 20810666 DOI: 10.1101/Gr.106534.110  0.385
2010 Anttila V, Stefansson H, Kallela M, Todt U, Terwindt GM, Calafato MS, Nyholt DR, Dimas AS, Freilinger T, Müller-Myhsok B, Artto V, Inouye M, Alakurtti K, Kaunisto MA, Hämäläinen E, ... ... Daly M, et al. Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1. Nature Genetics. 42: 869-73. PMID 20802479 DOI: 10.1038/Ng.652  0.456
2010 Neale BM, Medland S, Ripke S, Anney RJ, Asherson P, Buitelaar J, Franke B, Gill M, Kent L, Holmans P, Middleton F, Thapar A, Lesch KP, Faraone SV, Daly M, et al. Case-control genome-wide association study of attention-deficit/hyperactivity disorder. Journal of the American Academy of Child and Adolescent Psychiatry. 49: 906-20. PMID 20732627 DOI: 10.1016/J.Jaac.2010.06.007  0.435
2010 Neale BM, Medland SE, Ripke S, Asherson P, Franke B, Lesch KP, Faraone SV, Nguyen TT, Schäfer H, Holmans P, Daly M, Steinhausen HC, Freitag C, Reif A, Renner TJ, et al. Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder. Journal of the American Academy of Child and Adolescent Psychiatry. 49: 884-97. PMID 20732625 DOI: 10.1016/J.Jaac.2010.06.008  0.401
2010 Segrè AV, Groop L, Mootha VK, Daly MJ, Altshuler D. Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits. Plos Genetics. 6. PMID 20714348 DOI: 10.1371/Journal.Pgen.1001058  0.703
2010 McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Research. 20: 1297-303. PMID 20644199 DOI: 10.1101/Gr.107524.110  0.551
2010 Raychaudhuri S, Ripke S, Li M, Neale BM, Fagerness J, Reynolds R, Sobrin L, Swaroop A, Abecasis G, Seddon JM, Daly MJ. Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent. Nature Genetics. 42: 553-5; author reply . PMID 20581873 DOI: 10.1038/Ng0710-553  0.514
2010 Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, Dina C, Welch RP, Zeggini E, Huth C, Aulchenko YS, Thorleifsson G, McCulloch LJ, Ferreira T, Grallert H, Amin N, Wu G, ... ... Daly MJ, et al. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nature Genetics. 42: 579-89. PMID 20581827 DOI: 10.1038/Ng.609  0.672
2010 de Bakker PI, Neale BM, Daly MJ. Meta-analysis of genome-wide association studies. Cold Spring Harbor Protocols. 2010: pdb.top81. PMID 20516189 DOI: 10.1101/Pdb.Top81  0.48
2010 Kirby A, Kang HM, Wade CM, Cotsapas C, Kostem E, Han B, Furlotte N, Kang EY, Rivas M, Bogue MA, Frazer KA, Johnson FM, Beilharz EJ, Cox DR, Eskin E, ... Daly MJ, et al. Fine mapping in 94 inbred mouse strains using a high-density haplotype resource. Genetics. 185: 1081-95. PMID 20439770 DOI: 10.1534/Genetics.110.115014  0.376
2010 Neale BM, Fagerness J, Reynolds R, Sobrin L, Parker M, Raychaudhuri S, Tan PL, Oh EC, Merriam JE, Souied E, Bernstein PS, Li B, Frederick JM, Zhang K, Brantley MA, ... ... Daly MJ, et al. Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). Proceedings of the National Academy of Sciences of the United States of America. 107: 7395-400. PMID 20385826 DOI: 10.1073/Pnas.0912019107  0.591
2010 McGovern DP, Gardet A, Törkvist L, Goyette P, Essers J, Taylor KD, Neale BM, Ong RT, Lagacé C, Li C, Green T, Stevens CR, Beauchamp C, Fleshner PR, Carlson M, ... ... Daly MJ, et al. Genome-wide association identifies multiple ulcerative colitis susceptibility loci. Nature Genetics. 42: 332-7. PMID 20228799 DOI: 10.1038/Ng.549  0.486
2010 Beroukhim R, Mermel CH, Porter D, Wei G, Raychaudhuri S, Donovan J, Barretina J, Boehm JS, Dobson J, Urashima M, Mc Henry KT, Pinchback RM, Ligon AH, Cho YJ, Haery L, ... ... Daly MJ, et al. The landscape of somatic copy-number alteration across human cancers. Nature. 463: 899-905. PMID 20164920 DOI: 10.1038/Nature08822  0.604
2010 Jakkula E, Leppä V, Sulonen AM, Varilo T, Kallio S, Kemppinen A, Purcell S, Koivisto K, Tienari P, Sumelahti ML, Elovaara I, Pirttilä T, Reunanen M, Aromaa A, Oturai AB, ... ... Daly MJ, et al. Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene. American Journal of Human Genetics. 86: 285-91. PMID 20159113 DOI: 10.1016/J.Ajhg.2010.01.017  0.438
2010 Burrage LC, Baskin-Hill AE, Sinasac DS, Singer JB, Croniger CM, Kirby A, Kulbokas EJ, Daly MJ, Lander ES, Broman KW, Nadeau JH. Genetic resistance to diet-induced obesity in chromosome substitution strains of mice. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 21: 115-29. PMID 20127486 DOI: 10.1007/S00335-010-9247-9  0.462
2010 Sobrin L, Maller JB, Neale BM, Reynolds RC, Fagerness JA, Daly MJ, Seddon JM. Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach. European Journal of Human Genetics : Ejhg. 18: 496-501. PMID 19844262 DOI: 10.1038/Ejhg.2009.185  0.379
2010 Gaudet MM, Kirchhoff T, Green T, Vijai J, Korn JM, Guiducci C, Segrè AV, McGee K, McGuffog L, Kartsonaki C, Morrison J, Healey S, Sinilnikova OM, Stoppa-Lyonnet D, Mazoyer S, ... ... Daly MB, ... ... Daly MJ, et al. Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer Plos Genetics. 6. DOI: 10.1371/Annotation/B28Cf02D-7196-4A16-8B36-6562A0B84F75  0.305
2010 Cotsapas C, Speliotes EK, Hatoum IJ, Greenawalt DM, Dobrin R, Lum PY, Suver C, Chudin E, Kemp D, Reitman M, Voight BF, Neale BM, Schadt EE, Hirschhorn JN, Kaplan LM, ... Daly MJ, et al. Corrigendum to Common body mass index-associated variants confer risk of extreme obesity [Human Molecular Genetics, 2009; 18;18, 3502-3507, 10.1093/hmg/ddp292] Human Molecular Genetics. 19: 3690-3691. DOI: 10.1093/Hmg/Ddq287  0.324
2010 Parkes M, McGovern DP, Franke A, Vermeire S, Louis E, Ahmad T, Mathew CG, Annese V, Rioux JD, Rotter JI, Dubinsky M, Taylor KD, Kugathasan S, Brant SR, Duerr RH, ... ... Daly MJ, et al. 847v 18 New Crohn's Disease Susceptibility Genes and Loci Identified by the International IBD Genetics Consortium Gastroenterology. 138: S-115. DOI: 10.1016/S0016-5085(10)60528-8  0.411
2010 Festen EA, Goyette P, Green T, Beauchamp C, Lagace C, Boucher G, Trynka G, Dubois PC, Stokkers P, Hommes DW, Barisani D, Palmieri O, Annese V, van Heel D, Weersma RK, ... Daly MJ, et al. 34 A Meta-Analysis of Genome Wide Association Scans Identifies TAGAP and Pus10 as Shared Risk Loci for Crohn's Disease and Celiac Disease Gastroenterology. 138: S-7. DOI: 10.1016/S0016-5085(10)60028-5  0.706
2010 Rossin E, Cotsapas C, Raychaudhuri S, Lage K, Xavier R, Daly M. The Use of Protein-protein Interaction in Loci Associated to Crohn's and Rheumatoid Arthritis Reveals Evidence of Risk Spread Across Functional Networks Clinical Immunology. 135: S119. DOI: 10.1016/J.Clim.2010.03.356  0.496
2010 Neale BM, Rivas MA, Voight BF, Altshuler D, Devlin B, Orho-Melander M, Katherisan S, Roeder K, Daly MJ. Testing for an unusual distribution of rare variation Behavior Genetics. 40: 807-807. DOI: 10.1007/S10519-010-9392-7  0.513
2009 Imielinski M, Baldassano RN, Griffiths A, Russell RK, Annese V, Dubinsky M, Kugathasan S, Bradfield JP, Walters TD, Sleiman P, Kim CE, Muise A, Wang K, Glessner JT, Saeed S, ... ... Daly MJ, ... ... Daly M, et al. Common variants at five new loci associated with early-onset inflammatory bowel disease. Nature Genetics. 41: 1335-40. PMID 19915574 DOI: 10.1038/Ng.489  0.403
2009 Raychaudhuri S, Thomson BP, Remmers EF, Eyre S, Hinks A, Guiducci C, Catanese JJ, Xie G, Stahl EA, Chen R, Alfredsson L, Amos CI, Ardlie KG, Barton A, ... ... Daly MJ, et al. Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. Nature Genetics. 41: 1313-8. PMID 19898481 DOI: 10.1038/Ng.479  0.65
2009 Rioux JD, Goyette P, Vyse TJ, Hammarström L, Fernando MM, Green T, De Jager PL, Foisy S, Wang J, de Bakker PI, Leslie S, McVean G, Padyukov L, Alfredsson L, ... ... Daly MJ, et al. Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases. Proceedings of the National Academy of Sciences of the United States of America. 106: 18680-5. PMID 19846760 DOI: 10.1073/Pnas.0909307106  0.336
2009 Weiss LA, Arking DE, Daly MJ, Chakravarti A, Brune CW, West K, O'Connor A, Hilton G, Tomlinson RL, West AB, Cook EH, Green T, Chang SC, Gabriel S, Gates C, et al. A genome-wide linkage and association scan reveals novel loci for autism Nature. 461: 802-808. PMID 19812673 DOI: 10.1038/Nature08490  0.65
2009 Yang IV, Wade CM, Kang HM, Alper S, Rutledge H, Lackford B, Eskin E, Daly MJ, Schwartz DA. Identification of novel genes that mediate innate immunity using inbred mice. Genetics. 183: 1535-44. PMID 19805818 DOI: 10.1534/Genetics.109.107540  0.341
2009 Kenny EE, Gusev A, Riegel K, Lütjohann D, Lowe JK, Salit J, Maller JB, Stoffel M, Daly MJ, Altshuler DM, Friedman JM, Breslow JL, Pe'er I, Sehayek E. Systematic haplotype analysis resolves a complex plasma plant sterol locus on the Micronesian Island of Kosrae. Proceedings of the National Academy of Sciences of the United States of America. 106: 13886-91. PMID 19667188 DOI: 10.1073/Pnas.0907336106  0.584
2009 Purcell SM, Wray NR, Stone JL, Visscher PM, O'Donovan MC, Sullivan PF, Ruderfer DM, McQuillin A, Morris DW, Oĝdushlaine CT, Corvin A, Holmans PA, Oĝdonovan MC, MacGregor S, Gurling H, ... ... Daly MJ, et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder Nature. 460: 748-752. PMID 19571811 DOI: 10.1038/Nature08185  0.334
2009 Raychaudhuri S, Plenge RM, Rossin EJ, Ng AC, Purcell SM, Sklar P, Scolnick EM, Xavier RJ, Altshuler D, Daly MJ. Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions. Plos Genetics. 5: e1000534. PMID 19557189 DOI: 10.1371/Journal.Pgen.1000534  0.704
2009 Cotsapas C, Speliotes EK, Hatoum IJ, Greenawalt DM, Dobrin R, Lum PY, Suver C, Chudin E, Kemp D, Reitman M, Voight BF, Neale BM, Schadt EE, Hirschhorn JN, Kaplan LM, ... Daly MJ, et al. Common body mass index-associated variants confer risk of extreme obesity. Human Molecular Genetics. 18: 3502-7. PMID 19553259 DOI: 10.1093/Hmg/Ddp292  0.399
2009 De Jager PL, Jia X, Wang J, de Bakker PI, Ottoboni L, Aggarwal NT, Piccio L, Raychaudhuri S, Tran D, Aubin C, Briskin R, Romano S, Baranzini SE, McCauley JL, ... ... Daly MJ, et al. Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. Nature Genetics. 41: 776-82. PMID 19525953 DOI: 10.1038/Ng.401  0.551
2009 Daly AK, Donaldson PT, Bhatnagar P, Shen Y, Pe'er I, Floratos A, Daly MJ, Goldstein DB, John S, Nelson MR, Graham J, Park BK, Dillon JF, Bernal W, Cordell HJ, et al. HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. Nature Genetics. 41: 816-9. PMID 19483685 DOI: 10.1038/Ng.379  0.409
2009 Smith JG, Lowe JK, Kovvali S, Maller JB, Salit J, Daly MJ, Stoffel M, Altshuler DM, Friedman JM, Breslow JL, Newton-Cheh C. Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae. Heart Rhythm : the Official Journal of the Heart Rhythm Society. 6: 634-41. PMID 19389651 DOI: 10.1016/J.Hrthm.2009.02.022  0.579
2009 Ioannidis JP, Thomas G, Daly MJ. Validating, augmenting and refining genome-wide association signals. Nature Reviews. Genetics. 10: 318-29. PMID 19373277 DOI: 10.1038/Nrg2544  0.439
2009 Cichon S, Craddock N, Daly M, Faraone SV, Gejman PV, Kelsoe J, Lehner T, Levinson DF, Moran A, Sklar P, Sullivan PF. Genomewide association studies: history, rationale, and prospects for psychiatric disorders. The American Journal of Psychiatry. 166: 540-56. PMID 19339359 DOI: 10.1176/Appi.Ajp.2008.08091354  0.446
2009 Essers JB, Lee JJ, Kugathasan S, Stevens CR, Grand RJ, Daly MJ. Established genetic risk factors do not distinguish early and later onset Crohn's disease. Inflammatory Bowel Diseases. 15: 1508-14. PMID 19322901 DOI: 10.1002/Ibd.20922  0.403
2009 De Jager PL, Baecher-Allan C, Maier LM, Arthur AT, Ottoboni L, Barcellos L, McCauley JL, Sawcer S, Goris A, Saarela J, Yelensky R, Price A, Leppa V, Patterson N, de Bakker PI, ... ... Daly MJ, et al. The role of the CD58 locus in multiple sclerosis. Proceedings of the National Academy of Sciences of the United States of America. 106: 5264-9. PMID 19237575 DOI: 10.1073/Pnas.0813310106  0.592
2009 Kallio SP, Jakkula E, Purcell S, Suvela M, Koivisto K, Tienari PJ, Elovaara I, Pirttilä T, Reunanen M, Bronnikov D, Viander M, Meri S, Hillert J, Lundmark F, Harbo HF, ... ... Daly MJ, et al. Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS. Human Molecular Genetics. 18: 1670-83. PMID 19221116 DOI: 10.1093/Hmg/Ddp073  0.411
2009 Kathiresan S, Voight BF, Purcell S, Musunuru K, Ardissino D, Mannucci PM, Anand S, Engert JC, Samani NJ, Schunkert H, Erdmann J, Reilly MP, Rader DJ, Morgan T, ... ... Daly MJ, et al. Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nature Genetics. 41: 334-41. PMID 19198609 DOI: 10.1038/Ng.327  0.603
2009 Lowe JK, Maller JB, Pe'er I, Neale BM, Salit J, Kenny EE, Shea JL, Burkhardt R, Smith JG, Ji W, Noel M, Foo JN, Blundell ML, Skilling V, Garcia L, ... ... Daly MJ, et al. Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. Plos Genetics. 5: e1000365. PMID 19197348 DOI: 10.1371/Journal.Pgen.1000365  0.636
2009 Kemppinen A, Suvela M, Tienari PJ, Elovaara I, Koivisto K, Pirttilä T, Reunanen M, Rautakorpi I, Hillert J, Lundmark F, Oturai A, Ryder L, Harbo HF, Celius EG, Palotie A, ... Daly M, et al. MYO9B polymorphisms in multiple sclerosis. European Journal of Human Genetics : Ejhg. 17: 840-3. PMID 19142207 DOI: 10.1038/Ejhg.2008.251  0.409
2009 Silverberg MS, Cho JH, Rioux JD, McGovern DP, Wu J, Annese V, Achkar JP, Goyette P, Scott R, Xu W, Barmada MM, Klei L, Daly MJ, Abraham C, Bayless TM, et al. Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. Nature Genetics. 41: 216-20. PMID 19122664 DOI: 10.1038/Ng.275  0.403
2009 Seddon JM, Reynolds R, Maller J, Fagerness JA, Daly MJ, Rosner B. Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables. Investigative Ophthalmology & Visual Science. 50: 2044-53. PMID 19117936 DOI: 10.1167/Iovs.08-3064  0.364
2009 Sabatti C, Service SK, Hartikainen AL, Pouta A, Ripatti S, Brodsky J, Jones CG, Zaitlen NA, Varilo T, Kaakinen M, Sovio U, Ruokonen A, Laitinen J, Jakkula E, Coin L, ... ... Daly MJ, et al. Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. Nature Genetics. 41: 35-46. PMID 19060910 DOI: 10.1038/Ng.271  0.407
2009 Huett A, McCarroll SA, Daly MJ, Xavier RJ. On the level: IRGM gene function is all about expression. Autophagy. 5: 96-9. PMID 19029815 DOI: 10.4161/Auto.5.1.7263  0.417
2009 Gusev A, Lowe JK, Stoffel M, Daly MJ, Altshuler D, Breslow JL, Friedman JM, Pe'er I. Whole population, genome-wide mapping of hidden relatedness. Genome Research. 19: 318-26. PMID 18971310 DOI: 10.1101/Gr.081398.108  0.57
2009 Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, ... ... Daly MJ, et al. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. Journal of Medical Genetics. 46: 242-8. PMID 18805830 DOI: 10.1136/Jmg.2008.059907  0.336
2009 Sissons J, Yan B, Pichugin A, Kirby A, Daly MJ, Kramnik I. Multigenic control of tuberculosis resistance: analysis of a QTL on mouse chromosome 7 and its synergism with sst1 Genes and Immunity. 10: 37-46. PMID 18784733 DOI: 10.1038/Gene.2008.68  0.327
2009 Fagerness JA, Maller JB, Neale BM, Reynolds RC, Daly MJ, Seddon JM. Variation near complement factor I is associated with risk of advanced AMD. European Journal of Human Genetics : Ejhg. 17: 100-4. PMID 18685559 DOI: 10.1038/Ejhg.2008.140  0.431
2009 Daly MJ. Assessing significance in genetic association studies Cold Spring Harbor Protocols. 4. DOI: 10.1101/Pdb.Top58  0.39
2009 Silverberg MS, Cho JH, Rioux JD, McGovern DPB, Wu J, Annese V, Achkar J, Goyette P, Scott R, Xu W, Barmada MM, Klei L, Daly MJ, Abraham C, Bayless TM, et al. Erratum: Corrigendum: Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study Nature Genetics. 41: 762-762. DOI: 10.1038/Ng0609-762A  0.375
2009 Lander ES, Green P, Abrahamson J, Barlow A, Daly MJ, Lincoln SE, Newberg LA. Corrigendum to "MAPMAKER: An interactive computer package for constructing primary genetic linkage maps of experimental and natural populations" [Genomics 1 (1987) 174-181] (PII:0888-7543(87)90010-3) Genomics. 93: 398. DOI: 10.1016/J.Ygeno.2008.12.003  0.52
2008 McCarroll SA, Huett A, Kuballa P, Chilewski SD, Landry A, Goyette P, Zody MC, Hall JL, Brant SR, Cho JH, Duerr RH, Silverberg MS, Taylor KD, Rioux JD, Altshuler D, ... Daly MJ, et al. Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nature Genetics. 40: 1107-12. PMID 19165925 DOI: 10.1038/Ng.215  0.597
2008 Graham RR, Cotsapas C, Davies L, Hackett R, Lessard CJ, Leon JM, Burtt NP, Guiducci C, Parkin M, Gates C, Plenge RM, Behrens TW, Wither JE, Rioux JD, Fortin PR, ... ... Daly MJ, et al. Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nature Genetics. 40: 1059-61. PMID 19165918 DOI: 10.1038/Ng.200  0.581
2008 Shao H, Burrage LC, Sinasac DS, Hill AE, Ernest SR, O'Brien W, Courtland HW, Jepsen KJ, Kirby A, Kulbokas EJ, Daly MJ, Broman KW, Lander ES, Nadeau JH. Genetic architecture of complex traits: large phenotypic effects and pervasive epistasis. Proceedings of the National Academy of Sciences of the United States of America. 105: 19910-4. PMID 19066216 DOI: 10.1073/Pnas.0810388105  0.545
2008 Jakkula E, Rehnström K, Varilo T, Pietiläinen OP, Paunio T, Pedersen NL, deFaire U, Järvelin MR, Saharinen J, Freimer N, Ripatti S, Purcell S, Collins A, Daly MJ, Palotie A, et al. The genome-wide patterns of variation expose significant substructure in a founder population. American Journal of Human Genetics. 83: 787-94. PMID 19061986 DOI: 10.1016/J.Ajhg.2008.11.005  0.426
2008 Choy E, Yelensky R, Bonakdar S, Plenge RM, Saxena R, De Jager PL, Shaw SY, Wolfish CS, Slavik JM, Cotsapas C, Rivas M, Dermitzakis ET, Cahir-McFarland E, Kieff E, Hafler D, ... Daly MJ, et al. Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines. Plos Genetics. 4: e1000287. PMID 19043577 DOI: 10.1371/Journal.Pgen.1000287  0.539
2008 Altshuler D, Daly MJ, Lander ES. Genetic mapping in human disease. Science (New York, N.Y.). 322: 881-8. PMID 18988837 DOI: 10.1126/Science.1156409  0.674
2008 Neale BM, Lasky-Su J, Anney R, Franke B, Zhou K, Maller JB, Vasquez AA, Asherson P, Chen W, Banaschewski T, Buitelaar J, Ebstein R, Gill M, Miranda A, Oades RD, ... ... Daly M, et al. Genome-wide association scan of attention deficit hyperactivity disorder. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 147: 1337-44. PMID 18980221 DOI: 10.1002/Ajmg.B.30866  0.402
2008 Lasky-Su J, Anney RJ, Neale BM, Franke B, Zhou K, Maller JB, Vasquez AA, Chen W, Asherson P, Buitelaar J, Banaschewski T, Ebstein R, Gill M, Miranda A, Mulas F, ... ... Daly M, et al. Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 147: 1355-8. PMID 18937294 DOI: 10.1002/Ajmg.B.30869  0.387
2008 Kuballa P, Huett A, Rioux JD, Daly MJ, Xavier RJ. Impaired autophagy of an intracellular pathogen induced by a Crohn's disease associated ATG16L1 variant Plos One. 3. PMID 18852889 DOI: 10.1371/Journal.Pone.0003391  0.395
2008 Lasky-Su J, Neale BM, Franke B, Anney RJ, Zhou K, Maller JB, Vasquez AA, Chen W, Asherson P, Buitelaar J, Banaschewski T, Ebstein R, Gill M, Miranda A, Mulas F, ... ... Daly M, et al. Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 147: 1345-54. PMID 18821565 DOI: 10.1002/Ajmg.B.30867  0.433
2008 Burkhardt R, Kenny EE, Lowe JK, Birkeland A, Josowitz R, Noel M, Salit J, Maller JB, Pe'er I, Daly MJ, Altshuler D, Stoffel M, Friedman JM, Breslow JL. Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13. Arteriosclerosis, Thrombosis, and Vascular Biology. 28: 2078-84. PMID 18802019 DOI: 10.1161/Atvbaha.108.172288  0.616
2008 Raychaudhuri S, Remmers EF, Lee AT, Hackett R, Guiducci C, Burtt NP, Gianniny L, Korman BD, Padyukov L, Kurreeman FA, Chang M, Catanese JJ, Ding B, Wong S, van der Helm-van Mil AH, ... ... Daly MJ, et al. Common variants at CD40 and other loci confer risk of rheumatoid arthritis. Nature Genetics. 40: 1216-23. PMID 18794853 DOI: 10.1038/Ng.233  0.667
2008 Korn JM, Kuruvilla FG, McCarroll SA, Wysoker A, Nemesh J, Cawley S, Hubbell E, Veitch J, Collins PJ, Darvishi K, Lee C, Nizzari MM, Gabriel SB, Purcell S, Daly MJ, et al. Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nature Genetics. 40: 1253-60. PMID 18776909 DOI: 10.1038/Ng.237  0.595
2008 McCarroll SA, Kuruvilla FG, Korn JM, Cawley S, Nemesh J, Wysoker A, Shapero MH, de Bakker PI, Maller JB, Kirby A, Elliott AL, Parkin M, Hubbell E, Webster T, Mei R, ... ... Daly MJ, et al. Integrated detection and population-genetic analysis of SNPs and copy number variation. Nature Genetics. 40: 1166-74. PMID 18776908 DOI: 10.1038/Ng.238  0.627
2008 Ferreira MA, O'Donovan MC, Meng YA, Jones IR, Ruderfer DM, Jones L, Fan J, Kirov G, Perlis RH, Green EK, Smoller JW, Grozeva D, Stone J, Nikolov I, Chambert K, ... ... Daly MJ, et al. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nature Genetics. 40: 1056-8. PMID 18711365 DOI: 10.1038/Ng.209  0.361
2008 Nyholt DR, LaForge KS, Kallela M, Alakurtti K, Anttila V, Färkkilä M, Hämaläinen E, Kaprio J, Kaunisto MA, Heath AC, Montgomery GW, Göbel H, Todt U, Ferrari MD, Launer LJ, ... ... Daly MJ, et al. A high-density association screen of 155 ion transport genes for involvement with common migraine. Human Molecular Genetics. 17: 3318-31. PMID 18676988 DOI: 10.1093/Hmg/Ddn227  0.404
2008 Stone JL, O'Donovan MC, Gurling H, Kirov GK, Blackwood DHR, Corvin A, Craddock NJ, Gill M, Hultman CM, Lichtenstein P, McQuillin A, Pato CN, Ruderfer DM, Owen MJ, St Clair D, ... ... Daly MJ, ... ... Daly M, et al. Rare chromosomal deletions and duplications increase risk of schizophrenia Nature. 455: 237-241. PMID 18668038 DOI: 10.1038/Nature07239  0.368
2008 Barrett JC, Hansoul S, Nicolae DL, Cho JH, Duerr RH, Rioux JD, Brant SR, Silverberg MS, Taylor KD, Barmada MM, Bitton A, Dassopoulos T, Datta LW, Green T, Griffiths AM, ... ... Daly MJ, et al. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nature Genetics. 40: 955-62. PMID 18587394 DOI: 10.1038/Ng.175  0.476
2008 Anttila V, Nyholt DR, Kallela M, Artto V, Vepsäläinen S, Jakkula E, Wennerström A, Tikka-Kleemola P, Kaunisto MA, Hämäläinen E, Widén E, Terwilliger J, Merikangas K, Montgomery GW, Martin NG, ... Daly M, et al. Consistently replicating locus linked to migraine on 10q22-q23. American Journal of Human Genetics. 82: 1051-63. PMID 18423523 DOI: 10.1016/J.Ajhg.2008.03.003  0.354
2008 Kang HM, Zaitlen NA, Wade CM, Kirby A, Heckerman D, Daly MJ, Eskin E. Efficient control of population structure in model organism association mapping. Genetics. 178: 1709-23. PMID 18385116 DOI: 10.1534/Genetics.107.080101  0.403
2008 Zeggini E, Scott LJ, Saxena R, Voight BF, Marchini JL, Hu T, de Bakker PI, Abecasis GR, Almgren P, Andersen G, Ardlie K, Boström KB, Bergman RN, Bonnycastle LL, Borch-Johnsen K, ... ... Daly MJ, et al. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nature Genetics. 40: 638-45. PMID 18372903 DOI: 10.1038/Ng.120  0.603
2008 Pe'er I, Yelensky R, Altshuler D, Daly MJ. Estimation of the multiple testing burden for genomewide association studies of nearly all common variants. Genetic Epidemiology. 32: 381-5. PMID 18348202 DOI: 10.1002/Gepi.20303  0.57
2008 Sklar P, Smoller JW, Fan J, Ferreira MA, Perlis RH, Chambert K, Nimgaonkar VL, McQueen MB, Faraone SV, Kirby A, de Bakker PI, Ogdie MN, Thase ME, Sachs GS, Todd-Brown K, ... ... Daly MJ, et al. Whole-genome association study of bipolar disorder. Molecular Psychiatry. 13: 558-69. PMID 18317468 DOI: 10.1038/Sj.Mp.4002151  0.399
2008 Campbell CD, Kirby A, Nemesh J, Daly MJ, Hirschhorn JN. A survey of allelic imbalance in F1 mice. Genome Research. 18: 555-63. PMID 18256236 DOI: 10.1101/Gr.068692.107  0.342
2008 Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, ... ... Daly MJ, et al. Association between microdeletion and microduplication at 16p11.2 and autism. The New England Journal of Medicine. 358: 667-75. PMID 18184952 DOI: 10.1056/Nejmoa075974  0.548
2008 Kim HG, Kishikawa S, Higgins AW, Seong IS, Donovan DJ, Shen Y, Lally E, Weiss LA, Najm J, Kutsche K, Descartes M, Holt L, Braddock S, Troxell R, Kaplan L, ... ... Daly MJ, et al. Disruption of neurexin 1 associated with autism spectrum disorder. American Journal of Human Genetics. 82: 199-207. PMID 18179900 DOI: 10.1016/J.Ajhg.2007.09.011  0.362
2008 Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MAR, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, ... ... Daly MJ, et al. Association Between Microdeletion and Microduplication at 16p11.2 and Autism Obstetrical & Gynecological Survey. 63: 361-363. DOI: 10.1097/01.OGX.0000316305.61461.6F  0.441
2008 Essers J, Lee J, Grand R, Daly M. O-0021: Genotyping of common risk variants is informative in discerning IBD subtype Inflammatory Bowel Diseases. 14. DOI: 10.1097/00054725-200812003-00021  0.305
2008 Essers J, Lee J, Grand R, Daly M. Genotyping of common risk variants is informative in discerning IBD subtype: O-0021. Inflammatory Bowel Diseases. 14. DOI: 10.1097/00054725-200812001-00021  0.305
2008 Goyette P, Green T, Bakker Pd, Stevens C, Latiano A, Oksenberg JR, Hauser SL, Annese V, Daly MJ, Rioux JD. 299 A High Density Association Study of the Extended Major Histocompatibility Locus in Ulcerative Colitis and Crohn's Disease Gastroenterology. 134. DOI: 10.1016/S0016-5085(08)60202-4  0.34
2008 Ottoboni L, Young E, Yelensky R, Hafler D, Daly M, Jager PD. F.33. Genetic Variants that Control the Expression of MHC Genes Do Not Affect Susceptibility to Multiple Sclerosis Clinical Immunology. 127. DOI: 10.1016/J.Clim.2008.03.145  0.357
2007 Plenge RM, Cotsapas C, Davies L, Price AL, de Bakker PI, Maller J, Pe'er I, Burtt NP, Blumenstiel B, DeFelice M, Parkin M, Barry R, Winslow W, Healy C, Graham RR, ... ... Daly MJ, et al. Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nature Genetics. 39: 1477-82. PMID 17982456 DOI: 10.1038/Ng.2007.27  0.588
2007 Sabeti PC, Varilly P, Fry B, Lohmueller J, Hostetter E, Cotsapas C, Xie X, Byrne EH, McCarroll SA, Gaudet R, Schaffner SF, Lander ES, Frazer KA, Ballinger DG, ... ... Daly MJ, ... ... Daly MJ, et al. Genome-wide detection and characterization of positive selection in human populations. Nature. 449: 913-8. PMID 17943131 DOI: 10.1038/Nature06250  0.659
2007 Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, Pasternak S, Wheeler DA, Willis TD, Yu F, ... ... Daly MJ, ... ... Daly MJ, et al. A second generation human haplotype map of over 3.1 million SNPs. Nature. 449: 851-61. PMID 17943122 DOI: 10.1038/Nature06258  0.596
2007 Maller JB, Fagerness JA, Reynolds RC, Neale BM, Daly MJ, Seddon JM. Variation in complement factor 3 is associated with risk of age-related macular degeneration. Nature Genetics. 39: 1200-1. PMID 17767156 DOI: 10.1038/Ng2131  0.334
2007 Manolio TA, Rodriguez LL, Brooks L, Abecasis G, Ballinger D, Daly M, Donnelly P, Faraone SV, Frazer K, Gabriel S, Gejman P, et al. New models of collaboration in genome-wide association studies: the Genetic Association Information Network. Nature Genetics. 39: 1045-51. PMID 17728769 DOI: 10.1038/Ng2127  0.563
2007 Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MAR, Bender D, Maller J, Sklar P, Bakker PIWd, Daly MJ, Sham PC. PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses American Journal of Human Genetics. 81: 559-575. PMID 17701901 DOI: 10.1086/519795  0.431
2007 Frazer KA, Eskin E, Kang HM, Bogue MA, Hinds DA, Beilharz EJ, Gupta RV, Montgomery J, Morenzoni MM, Nilsen GB, Pethiyagoda CL, Stuve LL, Johnson FM, Daly MJ, Wade CM, et al. A sequence-based variation map of 8.27 million SNPs in inbred mouse strains. Nature. 448: 1050-3. PMID 17660834 DOI: 10.1038/Nature06067  0.368
2007 Hafler DA, Compston A, Sawcer S, Lander ES, Daly MJ, De Jager PL, de Bakker PI, Gabriel SB, Mirel DB, Ivinson AJ, Pericak-Vance MA, Gregory SG, Rioux JD, McCauley JL, et al. Risk alleles for multiple sclerosis identified by a genomewide study. The New England Journal of Medicine. 357: 851-62. PMID 17660530 DOI: 10.1056/Nejmoa073493  0.558
2007 Astrof S, Kirby A, Lindblad-Toh K, Daly M, Hynes RO. Heart development in fibronectin-null mice is governed by a genetic modifier on chromosome four. Mechanisms of Development. 124: 551-8. PMID 17628448 DOI: 10.1016/J.Mod.2007.05.004  0.317
2007 Altshuler D, Daly M. Guilt beyond a reasonable doubt. Nature Genetics. 39: 813-5. PMID 17597768 DOI: 10.1038/Ng0707-813  0.633
2007 Chanock SJ, Manolio T, Boehnke M, Boerwinkle E, Hunter DJ, Thomas G, Hirschhorn JN, Abecasis G, Altshuler D, Bailey-Wilson JE, Brooks LD, Cardon LR, Daly M, Donnelly P, et al. Replicating genotype-phenotype associations. Nature. 447: 655-60. PMID 17554299 DOI: 10.1038/447655A  0.551
2007 Saxena R, Voight BF, Lyssenko V, Burtt NP, de Bakker PI, Chen H, Roix JJ, Kathiresan S, Hirschhorn JN, Daly MJ, Hughes TE, Groop L, Altshuler D, Almgren P, et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science (New York, N.Y.). 316: 1331-6. PMID 17463246 DOI: 10.1126/Science.1142358  0.621
2007 Florez JC, Sjögren M, Agapakis CM, Burtt NP, Almgren P, Lindblad U, Berglund G, Tuomi T, Gaudet D, Daly MJ, Ardlie KG, Hirschhorn JN, Altshuler D, Groop L. Association testing of common variants in the insulin receptor substrate-1 gene (IRS1) with type 2 diabetes. Diabetologia. 50: 1209-17. PMID 17443311 DOI: 10.1007/S00125-007-0657-5  0.531
2007 Rioux JD, Xavier RJ, Taylor KD, Silverberg MS, Goyette P, Huett A, Green T, Kuballa P, Barmada MM, Datta LW, Shugart YY, Griffiths AM, Targan SR, Ippoliti AF, Bernard EJ, ... ... Daly MJ, et al. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nature Genetics. 39: 596-604. PMID 17435756 DOI: 10.1038/Ng2032  0.464
2007 Graham RR, Kyogoku C, Sigurdsson S, Vlasova IA, Davies LR, Baechler EC, Plenge RM, Koeuth T, Ortmann WA, Hom G, Bauer JW, Gillett C, Burtt N, Cunninghame Graham DS, Onofrio R, ... ... Daly MJ, et al. Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Proceedings of the National Academy of Sciences of the United States of America. 104: 6758-63. PMID 17412832 DOI: 10.1073/Pnas.0701266104  0.631
2007 Ferreira MAR, Sham P, Daly MJ, Purcell S. Ascertainment through family history of disease often decreases the power of family-based association studies. Behavior Genetics. 37: 631-636. PMID 17372818 DOI: 10.1007/S10519-007-9149-0  0.312
2007 Winckler W, Weedon MN, Graham RR, McCarroll SA, Purcell S, Almgren P, Tuomi T, Gaudet D, Boström KB, Walker M, Hitman G, Hattersley AT, McCarthy MI, Ardlie KG, Hirschhorn JN, ... Daly MJ, et al. Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. Diabetes. 56: 685-93. PMID 17327436 DOI: 10.2337/Db06-0202  0.59
2007 Yeo TW, De Jager PL, Gregory SG, Barcellos LF, Walton A, Goris A, Fenoglio C, Ban M, Taylor CJ, Goodman RS, Walsh E, Wolfish CS, Horton R, Traherne J, Beck S, ... ... Daly MJ, et al. A second major histocompatibility complex susceptibility locus for multiple sclerosis. Annals of Neurology. 61: 228-36. PMID 17252545 DOI: 10.1002/Ana.21063  0.545
2007 Silverberg MS, Duerr RH, Brant SR, Bromfield G, Datta LW, Jani N, Kane SV, Rotter JI, Schumm LP, Steinhart AH, Taylor KD, Yang H, Cho JH, Rioux JD, Daly MJ. Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease European Journal of Human Genetics. 15: 328-335. PMID 17213842 DOI: 10.1038/Sj.Ejhg.5201756  0.48
2007 Weiss LA, Purcell S, Waggoner S, Lawrence K, Spektor D, Daly MJ, Sklar P, Skuse D. Identification of EFHC2 as a quantitative trait locus for fear recognition in Turner syndrome. Human Molecular Genetics. 16: 107-13. PMID 17164267 DOI: 10.1093/Hmg/Ddl445  0.382
2007 Purcell S, Daly MJ, Sham PC. WHAP: haplotype-based association analysis Bioinformatics. 23: 255-256. PMID 17118959 DOI: 10.1093/Bioinformatics/Btl580  0.404
2007 Saxena R, de Bakker PI, Groop LC, Daly MJ, Altshuler D. Reply to Elson et al. The American Journal of Human Genetics. 80: 382-383. DOI: 10.1086/511653  0.42
2007 Pe'er I, Yelensky R, Altshuler D, Daly MJ. Estimation of the Multiple Testing Burden for Genomewide Association Studies of Common Variants Nature Precedings. 2: 1-1. DOI: 10.1038/Npre.2007.359.1  0.569
2007 Goyette P, Green T, Bakker Pd, Mirel D, Stevens C, Latiano A, Oksenberg J, Hauser S, Annese V, Rioux J, Daly M. A High Density Association Study of the Extended Major Histocompatibility Locus in Ulcerative Colitis Clinical Immunology. 123. DOI: 10.1016/J.Clim.2007.03.132  0.318
2007 Rioux J, Xavier R, Taylor K, Goyette P, Silverberg M, Huett A, Green T, Kuballa P, Barmada M, Datta L, Shugart YY, Jean Bernard E, Mei L, Nicolae D, Steinhart H, ... ... Daly M, et al. Whole Genome Association Identifies Novel Susceptibility Genes for Crohn's Disease and Implicates a Crucial Role for Autophagy Clinical Immunology. 123: S172. DOI: 10.1016/J.Clim.2007.03.131  0.441
2007 De Jager P, Yelensky R, Rossin E, Bonadkar S, Choy E, Daly M, Altshuler D, Hafler D. A Genome-wide Screen for Genetic Variants Affecting the Expression of Immunologically Relevant Cell Surface Markers Clinical Immunology. 123: S153. DOI: 10.1016/J.Clim.2007.03.076  0.569
2006 Florez JC, Saxena R, Winckler W, Burtt NP, Almgren P, Bengtsson Boström K, Tuomi T, Gaudet D, Ardlie KG, Daly MJ, Altshuler D, Hirschhorn JN, Groop L. The Krüppel-like factor 11 (KLF11) Q62R polymorphism is not associated with type 2 diabetes in 8,676 people. Diabetes. 55: 3620-4. PMID 17130512 DOI: 10.2337/Db06-0867  0.553
2006 van Bodegraven AA, Curley CR, Hunt KA, Monsuur AJ, Linskens RK, Onnie CM, Crusius JB, Annese V, Latiano A, Silverberg MS, Bitton A, Fisher SA, Steinhart AH, Forbes A, Sanderson J, ... ... Daly MJ, et al. Genetic variation in myosin IXB is associated with ulcerative colitis. Gastroenterology. 131: 1768-74. PMID 17087940 DOI: 10.1053/J.Gastro.2006.09.011  0.451
2006 Duerr RH, Taylor KD, Brant SR, Rioux JD, Silverberg MS, Daly MJ, Steinhart AH, Abraham C, Regueiro M, Griffiths A, Dassopoulos T, Bitton A, Yang H, Targan S, Datta LW, et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science (New York, N.Y.). 314: 1461-3. PMID 17068223 DOI: 10.1126/Science.1135245  0.44
2006 Lyon HN, Florez JC, Bersaglieri T, Saxena R, Winckler W, Almgren P, Lindblad U, Tuomi T, Gaudet D, Zhu X, Cooper R, Ardlie KG, Daly MJ, Altshuler D, Groop L, et al. Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity. Diabetes. 55: 3180-4. PMID 17065359 DOI: 10.2337/Db06-0407  0.559
2006 de Bakker PI, Burtt NP, Graham RR, Guiducci C, Yelensky R, Drake JA, Bersaglieri T, Penney KL, Butler J, Young S, Onofrio RC, Lyon HN, Stram DO, Haiman CA, Freedman ML, ... ... Daly MJ, et al. Transferability of tag SNPs in genetic association studies in multiple populations. Nature Genetics. 38: 1298-303. PMID 17057720 DOI: 10.1038/Ng1899  0.556
2006 Mutsuddi M, Morris DW, Waggoner SG, Daly MJ, Scolnick EM, Sklar P. Analysis of high-resolution HapMap of DTNBP1 (Dysbindin) suggests no consistency between reported common variant associations and schizophrenia. American Journal of Human Genetics. 79: 903-9. PMID 17033966 DOI: 10.1086/508942  0.451
2006 Saxena R, Gianniny L, Burtt NP, Lyssenko V, Giuducci C, Sjögren M, Florez JC, Almgren P, Isomaa B, Orho-Melander M, Lindblad U, Daly MJ, Tuomi T, Hirschhorn JN, Ardlie KG, et al. Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals. Diabetes. 55: 2890-5. PMID 17003358 DOI: 10.2337/Db06-0381  0.551
2006 de Bakker PI, McVean G, Sabeti PC, Miretti MM, Green T, Marchini J, Ke X, Monsuur AJ, Whittaker P, Delgado M, Morrison J, Richardson A, Walsh EC, Gao X, Galver L, ... ... Daly MJ, et al. A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nature Genetics. 38: 1166-72. PMID 16998491 DOI: 10.1038/Ng1885  0.409
2006 Maller J, George S, Purcell S, Fagerness J, Altshuler D, Daly MJ, Seddon JM. Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. Nature Genetics. 38: 1055-9. PMID 16936732 DOI: 10.1016/J.Ajo.2006.11.012  0.624
2006 Fisher SA, Hampe J, Onnie CM, Daly MJ, Curley C, Purcell S, Sanderson J, Mansfield J, Annese V, Forbes A, Lewis CM, Schreiber S, Rioux JD, Mathew CG. Direct or indirect association in a complex disease: the role of SLC22A4 and SLC22A5 functional variants in Crohn disease. Human Mutation. 27: 778-85. PMID 16835882 DOI: 10.1002/Humu.20358  0.455
2006 Wiltshire S, Bakker PIWd, Daly MJ. The value of gene-based selection of tag SNPs in genome-wide association studies European Journal of Human Genetics. 14: 1209-1214. PMID 16804554 DOI: 10.1038/Sj.Ejhg.5201678  0.473
2006 Saxena R, de Bakker PI, Singer K, Mootha V, Burtt N, Hirschhorn JN, Gaudet D, Isomaa B, Daly MJ, Groop L, Ardlie KG, Altshuler D. Comprehensive association testing of common mitochondrial DNA variation in metabolic disease. American Journal of Human Genetics. 79: 54-61. PMID 16773565 DOI: 10.1086/504926  0.696
2006 Pe'er I, de Bakker PI, Maller J, Yelensky R, Altshuler D, Daly MJ. Evaluating and improving power in whole-genome association studies using fixed marker sets. Nature Genetics. 38: 663-7. PMID 16715096 DOI: 10.1038/Ng1816  0.606
2006 Graham RR, Kozyrev SV, Baechler EC, Reddy MV, Plenge RM, Bauer JW, Ortmann WA, Koeuth T, González Escribano MF, Pons-Estel B, Petri M, Daly M, Gregersen PK, Martín J, et al. A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. Nature Genetics. 38: 550-5. PMID 16642019 DOI: 10.1038/Ng1782  0.577
2006 Tello-Ruiz MK, Curley C, DelMonte T, Giallourakis C, Kirby A, Miller K, Wild G, Cohen A, Langelier D, Latiano A, Wedemeyer N, Lander E, Schreiber S, Annese V, Daly MJ, et al. Haplotype-based association analysis of 56 functional candidate genes in the IBD6 locus on chromosome 19. European Journal of Human Genetics : Ejhg. 14: 780-90. PMID 16570073 DOI: 10.1038/Sj.Ejhg.5201612  0.607
2006 Pe'er I, Chretien YR, de Bakker PI, Barrett JC, Daly MJ, Altshuler DM. Biases and reconciliation in estimates of linkage disequilibrium in the human genome. American Journal of Human Genetics. 78: 588-603. PMID 16532390 DOI: 10.1086/502803  0.63
2006 Sun MW, Lee JY, de Bakker PI, Burtt NP, Almgren P, RÃ¥stam L, Tuomi T, Gaudet D, Daly MJ, Hirschhorn JN, Altshuler D, Groop L, Florez JC. Haplotype structures and large-scale association testing of the 5' AMP-activated protein kinase genes PRKAA2, PRKAB1, and PRKAB2 [corrected] with type 2 diabetes. Diabetes. 55: 849-55. PMID 16505254 DOI: 10.2337/Diabetes.55.03.06.Db05-1418  0.573
2006 McCarroll SA, Hadnott TN, Perry GH, Sabeti PC, Zody MC, Barrett JC, Dallaire S, Gabriel SB, Lee C, Daly MJ, Altshuler DM. Common deletion polymorphisms in the human genome. Nature Genetics. 38: 86-92. PMID 16468122 DOI: 10.1038/Ng1696  0.636
2006 Friedrichs F, Brescianini S, Annese V, Latiano A, Berger K, Kugathasan S, Broeckel U, Nikolaus S, Daly MJ, Schreiber S, Rioux JD, Stoll M. Evidence of transmission ratio distortion of DLG5 R30Q variant in general and implication of an association with Crohn disease in men. Human Genetics. 119: 305-11. PMID 16446977 DOI: 10.1007/S00439-006-0133-1  0.368
2006 Bonnen PE, Pe'er I, Plenge RM, Salit J, Lowe JK, Shapero MH, Lifton RP, Breslow JL, Daly MJ, Reich DE, Jones KW, Stoffel M, Altshuler D, Friedman JM. Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia. Nature Genetics. 38: 214-7. PMID 16429162 DOI: 10.1038/Ng1712  0.603
2006 Florez JC, Wiltshire S, Agapakis CM, Burtt NP, de Bakker PI, Almgren P, Bengtsson Boström K, Tuomi T, Gaudet D, Daly MJ, Hirschhorn JN, McCarthy MI, Altshuler D, Groop L. High-density haplotype structure and association testing of the insulin-degrading enzyme (IDE) gene with type 2 diabetes in 4,206 people. Diabetes. 55: 128-35. PMID 16380485 DOI: 10.2337/Diabetes.55.01.06.Db05-0954  0.566
2006 Crawford GE, Holt IE, Whittle J, Webb BD, Tai D, Davis S, Margulies EH, Chen Y, Bernat JA, Ginsburg D, Zhou D, Luo S, Vasicek TJ, Daly MJ, Wolfsberg TG, et al. Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS). Genome Research. 16: 123-31. PMID 16344561 DOI: 10.1101/Gr.4074106  0.36
2006 Chadha S, Miller K, Farwell L, Sacks S, Daly MJ, Rioux JD, Vyse TJ. Haplotype analysis of tumour necrosis factor receptor genes in 1p36: no evidence for association with systemic lupus erythematosus. European Journal of Human Genetics. 14: 69-78. PMID 16306881 DOI: 10.1038/Sj.Ejhg.5201527  0.421
2006 De Jager P, Franchimont D, Waliszewska A, Bitton A, Cohen A, Belaiche J, Langelier D, Farwell L, Goris A, Libioulle C, Jani N, Dassopoulos T, Gillian B, Dubois B, Cho J, ... ... Daly M, et al. Sa.137. Toll-Like Receptor Pathway Polymorphisms and Association to Inflammatory Bowel Disease Clinical Immunology. 119: S154. DOI: 10.1016/J.Clim.2006.04.369  0.341
2005 Salmela E, Taskinen O, Seppänen JK, Sistonen P, Daly MJ, Lahermo P, Savontaus M, Kere J. Subpopulation difference scanning: a strategy for exclusion mapping of susceptibility genes Journal of Medical Genetics. 43: 590-597. PMID 16443857 DOI: 10.1136/Jmg.2005.038414  0.435
2005 Lindblad-Toh K, Wade CM, Mikkelsen TS, Karlsson EK, Jaffe DB, Kamal M, Clamp M, Chang JL, Kulbokas EJ, Zody MC, Mauceli E, Xie X, Breen M, Wayne RK, Ostrander EA, ... ... Daly MJ, et al. Genome sequence, comparative analysis and haplotype structure of the domestic dog. Nature. 438: 803-19. PMID 16341006 DOI: 10.1038/Nature04338  0.694
2005 Monsuur AJ, de Bakker PI, Alizadeh BZ, Zhernakova A, Bevova MR, Strengman E, Franke L, van't Slot R, van Belzen MJ, Lavrijsen IC, Diosdado B, Daly MJ, Mulder CJ, Mearin ML, Meijer JW, et al. Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect. Nature Genetics. 37: 1341-4. PMID 16282976 DOI: 10.1038/Ng1680  0.406
2005 Wade CM, Daly MJ. Genetic variation in laboratory mice. Nature Genetics. 37: 1175-80. PMID 16254563 DOI: 10.1038/Ng1666  0.337
2005 Schaffner SF, Foo C, Gabriel S, Reich D, Daly MJ, Altshuler D. Calibrating a coalescent simulation of human genome sequence variation. Genome Research. 15: 1576-83. PMID 16251467 DOI: 10.1101/Gr.3709305  0.569
2005 de Bakker PI, Yelensky R, Pe'er I, Gabriel SB, Daly MJ, Altshuler D. Efficiency and power in genetic association studies. Nature Genetics. 37: 1217-23. PMID 16244653 DOI: 10.1038/Ng1669  0.571
2005 McQueen MB, Devlin B, Faraone SV, Nimgaonkar VL, Sklar P, Smoller JW, Abou Jamra R, Albus M, Bacanu SA, Baron M, Barrett TB, Berrettini W, Blacker D, Byerley W, Cichon S, ... ... Daly MJ, et al. Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q. American Journal of Human Genetics. 77: 582-95. PMID 16175504 DOI: 10.1086/491603  0.41
2005 Sawcer S, Ban M, Maranian M, Yeo TW, Compston A, Kirby A, Daly MJ, De Jager PL, Walsh E, Lander ES, Rioux JD, Hafler DA, Ivinson A, Rimmler J, Gregory SG, et al. A high-density screen for linkage in multiple sclerosis. American Journal of Human Genetics. 77: 454-67. PMID 16080120 DOI: 10.1086/444547  0.5
2005 Winckler W, Burtt NP, Holmkvist J, Cervin C, de Bakker PI, Sun M, Almgren P, Tuomi T, Gaudet D, Hudson TJ, Ardlie KG, Daly MJ, Hirschhorn JN, Altshuler D, Groop L. Association of common variation in the HNF1alpha gene region with risk of type 2 diabetes. Diabetes. 54: 2336-42. PMID 16046299 DOI: 10.2337/Diabetes.54.8.2336  0.588
2005 Daly M. Patterns of genetic variation in humans and mice Novartis Foundation Symposium. 267: 2-8. PMID 15999797  0.34
2005 Petryshen TL, Kirby A, Hammer RP, Purcell S, O'Leary SB, Singer JB, Hill AE, Nadeau JH, Daly MJ, Sklar P. Two quantitative trait loci for prepulse inhibition of startle identified on mouse chromosome 16 using chromosome substitution strains. Genetics. 171: 1895-904. PMID 15998716 DOI: 10.1534/Genetics.105.045658  0.355
2005 Florez JC, Agapakis CM, Burtt NP, Sun M, Almgren P, RÃ¥stam L, Tuomi T, Gaudet D, Hudson TJ, Daly MJ, Ardlie KG, Hirschhorn JN, Groop L, Altshuler D. Association testing of the protein tyrosine phosphatase 1B gene (PTPN1) with type 2 diabetes in 7,883 people. Diabetes. 54: 1884-91. PMID 15919813 DOI: 10.2337/Diabetes.54.6.1884  0.541
2005 Daly MJ, Pearce AV, Farwell L, Fisher SA, Latiano A, Prescott NJ, Forbes A, Mansfield J, Sanderson J, Langelier D, Cohen A, Bitton A, Wild G, Lewis CM, Annese V, et al. Association of DLG5 R30Q variant with inflammatory bowel disease. European Journal of Human Genetics : Ejhg. 13: 835-9. PMID 15841097 DOI: 10.1038/Sj.Ejhg.5201403  0.427
2005 Pan H, Yan BS, Rojas M, Shebzukhov YV, Zhou H, Kobzik L, Higgins DE, Daly MJ, Bloom BR, Kramnik I. Ipr1 gene mediates innate immunity to tuberculosis. Nature. 434: 767-72. PMID 15815631 DOI: 10.1038/Nature03419  0.305
2005 Daly MJ, Altshuler D. Partners in crime. Nature Genetics. 37: 337-8. PMID 15800643 DOI: 10.1038/ng0405-337  0.343
2005 Winckler W, Graham RR, de Bakker PI, Sun M, Almgren P, Tuomi T, Gaudet D, Hudson TJ, Ardlie KG, Daly MJ, Hirschhorn JN, Groop L, Altshuler D. Association testing of variants in the hepatocyte nuclear factor 4alpha gene with risk of type 2 diabetes in 7,883 people. Diabetes. 54: 886-92. PMID 15734869 DOI: 10.2337/Diabetes.54.3.886  0.595
2005 Hirschhorn JN, Daly MJ. Genome-wide association studies for common diseases and complex traits Nature Reviews Genetics. 6: 95-108. PMID 15716906 DOI: 10.1038/Nrg1521  0.482
2005 Chadha S, Miller K, Farwell L, Lightstone LB, Daly MJ, Rioux JD, Vyse TJ. Haplotype structure of TNFRSF5-TNFSF5 (CD40-CD40L) and association analysis in systemic lupus erythematosus. European Journal of Human Genetics. 13: 669-676. PMID 15657613 DOI: 10.1038/Sj.Ejhg.5201367  0.392
2005 Purcell S, Sham P, Daly MJ. Parental phenotypes in family-based association analysis. American Journal of Human Genetics. 76: 249-259. PMID 15614722 DOI: 10.1086/427886  0.342
2005 Petryshen TL, Middleton FA, Kirby A, Aldinger KA, Purcell S, Tahl AR, Morley CP, McGann L, Gentile KL, Rockwell GN, Medeiros HM, Carvalho C, Macedo A, Dourado A, Valente J, ... ... Daly MJ, et al. Support for involvement of neuregulin 1 in schizophrenia pathophysiology. Molecular Psychiatry. 10: 366-74, 328. PMID 15545978 DOI: 10.1038/Sj.Mp.4001608  0.378
2005 Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps Bioinformatics. 21: 263-265. PMID 15297300 DOI: 10.1093/Bioinformatics/Bth457  0.373
2005 Vyse TJ, Richardson AM, Walsh E, Farwell L, Daly MJ, Terhorst C, Rioux JD. Mapping autoimmune disease genes in humans: lessons from IBD and SLE. Novartis Foundation Symposium. 267: 94-112. DOI: 10.1002/047002139X.Ch8  0.43
2005 Daly M. Patterns of genetic variation in humans and mice. Novartis Foundation Symposium. 267: 2-13. DOI: 10.1002/047002139X.Ch2  0.449
2004 Eller E, Vardi P, Daly MJ, Babu S, Roberts C, Yang F, Eisenbarth GS, Fain PR. IDDM17: polymorphisms in the AMACO gene are associated with dominant protection against type 1A diabetes in a Bedouin Arab family. Annals of the New York Academy of Sciences. 1037: 145-149. PMID 15699509 DOI: 10.1196/Annals.1337.024  0.388
2004 Florez JC, Sjögren M, Burtt N, Orho-Melander M, Schayer S, Sun M, Almgren P, Lindblad U, Tuomi T, Gaudet D, Hudson TJ, Daly MJ, Ardlie KG, Hirschhorn JN, Altshuler D, et al. Association testing in 9,000 people fails to confirm the association of the insulin receptor substrate-1 G972R polymorphism with type 2 diabetes. Diabetes. 53: 3313-8. PMID 15561965 DOI: 10.2337/Diabetes.53.12.3313  0.547
2004 Rioux JD, Karinen H, Kocher K, McMahon SG, Kärkkäinen P, Janatuinen E, Heikkinen M, Julkunen R, Pihlajamäki J, Naukkarinen A, Kosma VM, Daly MJ, Lander ES, Laakso M. Genomewide search and association studies in a Finnish celiac disease population: Identification of a novel locus and replication of the HLA and CTLA4 loci. American Journal of Medical Genetics. Part A. 130: 345-50. PMID 15386476 DOI: 10.1002/Ajmg.A.30072  0.552
2004 Abecasis G, Cox N, Daly MJ, Kruglyak L, Laird N, Markianos K, Patterson N. No bias in linkage analysis. American Journal of Human Genetics. 75: 722-3; author reply . PMID 15338460 DOI: 10.1086/424757  0.566
2004 Daly MJ, Rioux JD. New approaches to gene hunting in IBD. Inflammatory Bowel Diseases. 10: 312-317. PMID 15290928 DOI: 10.1097/00054725-200405000-00020  0.401
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