Steven A. McCarroll, Ph.D. - Publications

Affiliations: 
2004 University of California, San Francisco, San Francisco, CA 
Area:
Molecular Biology, Genetics

172 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 Kamitaki N, Hujoel MLA, Mukamel RE, Gebara E, McCarroll SA, Loh PR. A sequence of SVA retrotransposon insertions in ASIP shaped human pigmentation. Nature Genetics. PMID 39048794 DOI: 10.1038/s41588-024-01841-4  0.315
2024 Hujoel MLA, Handsaker RE, Sherman MA, Kamitaki N, Barton AR, Mukamel RE, Terao C, McCarroll SA, Loh PR. Protein-altering variants at copy number-variable regions influence diverse human phenotypes. Nature Genetics. PMID 38548989 DOI: 10.1038/s41588-024-01684-z  0.394
2024 Genovese G, Rockweiler NB, Gorman BR, Bigdeli TB, Pato MT, Pato CN, Ichihara K, McCarroll SA. BCFtools/liftover: an accurate and comprehensive tool to convert genetic variants across genome assemblies. Bioinformatics (Oxford, England). 40. PMID 38261650 DOI: 10.1093/bioinformatics/btae038  0.312
2024 Tegtmeyer M, Arora J, Asgari S, Cimini BA, Nadig A, Peirent E, Liyanage D, Way GP, Weisbart E, Nathan A, Amariuta T, Eggan K, Haghighi M, McCarroll SA, O'Connor L, et al. High-dimensional phenotyping to define the genetic basis of cellular morphology. Nature Communications. 15: 347. PMID 38184653 DOI: 10.1038/s41467-023-44045-w  0.32
2023 Maury EA, Sherman MA, Genovese G, Gilgenast TG, Kamath T, Burris SJ, Rajarajan P, Flaherty E, Akbarian S, Chess A, McCarroll SA, Loh PR, Phillips-Cremins JE, Brennand KJ, Macosko EZ, et al. Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent and disruptions. Cell Genomics. 3: 100356. PMID 37601975 DOI: 10.1016/j.xgen.2023.100356  0.326
2023 Mukamel RE, Handsaker RE, Sherman MA, Barton AR, Hujoel MLA, McCarroll SA, Loh PR. Repeat polymorphisms underlie top genetic risk loci for glaucoma and colorectal cancer. Cell. PMID 37527660 DOI: 10.1016/j.cell.2023.07.002  0.353
2023 Hujoel MLA, Handsaker RE, Sherman MA, Kamitaki N, Barton AR, Mukamel RE, Terao C, McCarroll SA, Loh PR. Hidden protein-altering variants influence diverse human phenotypes. Biorxiv : the Preprint Server For Biology. PMID 37333244 DOI: 10.1101/2023.06.07.544066  0.38
2022 Weiner DJ, Ling E, Erdin S, Tai DJC, Yadav R, Grove J, Fu JM, Nadig A, Carey CE, Baya N, Bybjerg-Grauholm J, Berretta S, Macosko EZ, Sebat J, O'Connor LJ, ... McCarroll SA, et al. Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p. Nature Genetics. PMID 36280734 DOI: 10.1038/s41588-022-01203-y  0.317
2022 Hanks SC, Forer L, Schönherr S, LeFaive J, Martins T, Welch R, Gagliano Taliun SA, Braff D, Johnsen JM, Kenny EE, Konkle BA, Laakso M, Loos RFJ, McCarroll S, Pato C, et al. Extent to which array genotyping and imputation with large reference panels approximate deep whole-genome sequencing. American Journal of Human Genetics. PMID 35981533 DOI: 10.1016/j.ajhg.2022.07.012  0.347
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, ... ... McCarroll SA, et al. Mapping genomic loci implicates genes and synaptic biology in schizophrenia. Nature. PMID 35396580 DOI: 10.1038/s41586-022-04434-5  0.397
2022 Singh T, Poterba T, Curtis D, Akil H, Al Eissa M, Barchas JD, Bass N, Bigdeli TB, Breen G, Bromet EJ, Buckley PF, Bunney WE, Bybjerg-Grauholm J, Byerley WF, Chapman SB, ... ... McCarroll SA, et al. Rare coding variants in ten genes confer substantial risk for schizophrenia. Nature. PMID 35396579 DOI: 10.1038/s41586-022-04556-w  0.325
2022 Merkle FT, Ghosh S, Genovese G, Handsaker RE, Kashin S, Meyer D, Karczewski KJ, O'Dushlaine C, Pato C, Pato M, MacArthur DG, McCarroll SA, Eggan K. Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation. Cell Stem Cell. PMID 35176222 DOI: 10.1016/j.stem.2022.01.011  0.305
2021 Dobrindt K, Zhang H, Das D, Abdollahi S, Prorok T, Ghosh S, Weintraub S, Genovese G, Powell SK, Lund A, Akbarian S, Eggan K, McCarroll S, Duan J, Avramopoulos D, et al. Publicly Available hiPSC Lines with Extreme Polygenic Risk Scores for Modeling Schizophrenia. Complex Psychiatry. 6: 68-82. PMID 34883504 DOI: 10.1159/000512716  0.325
2021 Mullins N, Forstner AJ, O'Connell KS, Coombes B, Coleman JRI, Qiao Z, Als TD, Bigdeli TB, Børte S, Bryois J, Charney AW, Drange OK, Gandal MJ, Hagenaars SP, Ikeda M, ... ... McCarroll SA, et al. Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology. Nature Genetics. PMID 34002096 DOI: 10.1038/s41588-021-00857-4  0.314
2021 Mukamel RE, Handsaker RE, Sherman MA, Barton AR, Zheng Y, McCarroll SA, Loh PR. Protein-coding repeat polymorphisms strongly shape diverse human phenotypes. Biorxiv : the Preprint Server For Biology. PMID 33501449 DOI: 10.1101/2021.01.19.427332  0.338
2021 Jia X, Goes FS, Locke AE, Palmer D, Wang W, Cohen-Woods S, Genovese G, Jackson AU, Jiang C, Kvale M, Mullins N, Nguyen H, Pirooznia M, Rivera M, Ruderfer DM, ... ... McCarroll SA, et al. Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder. Molecular Psychiatry. PMID 33483695 DOI: 10.1038/s41380-020-01006-9  0.338
2020 Terao C, Suzuki A, Momozawa Y, Akiyama M, Ishigaki K, Yamamoto K, Matsuda K, Murakami Y, McCarroll SA, Kubo M, Loh PR, Kamatani Y. Chromosomal alterations among age-related haematopoietic clones in Japan. Nature. PMID 32581364 DOI: 10.1038/S41586-020-2426-2  0.374
2020 Loh PR, Genovese G, McCarroll SA. Monogenic and polygenic inheritance become instruments for clonal selection. Nature. PMID 32581363 DOI: 10.1038/S41586-020-2430-6  0.394
2020 Kamitaki N, Sekar A, Handsaker RE, de Rivera H, Tooley K, Morris DL, Taylor KE, Whelan CW, Tombleson P, Loohuis LMO, Boehnke M, Kimberly RP, Kaufman KM, Harley JB, ... ... McCarroll SA, et al. Complement genes contribute sex-biased vulnerability in diverse disorders. Nature. PMID 32499649 DOI: 10.1038/S41586-020-2277-X  0.343
2020 Bell AD, Mello CJ, Nemesh J, Brumbaugh SA, Wysoker A, McCarroll SA. Insights into variation in meiosis from 31,228 human sperm genomes. Nature. PMID 32494014 DOI: 10.1038/S41586-020-2347-0  0.354
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, ... ... McCarroll S, 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  0.343
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, ... ... McCarroll SA, 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  0.409
2020 Dobrindt K, Zhang H, Das D, Abdollahi S, Prorok T, Ghosh S, Weintraub S, Genovese G, Powell SK, Lund A, Akbarian S, Eggan K, McCarroll S, Duan J, Avramopoulos D, et al. Publicly Available hiPSC Lines with Extreme Polygenic Risk Scores for Modeling Schizophrenia Complex Psychiatry. 6: 68-82. DOI: 10.1159/000512716  0.325
2020 Kamitaki N, Handsaker B, Morris D, Langefeld C, Graham R, Criswell L, Mccarroll S, Vyse T. Thu0002 Solving The Complex Mhc Associations In Sle Identifies Sex-Related Gene Effects Annals of the Rheumatic Diseases. 79: 213-214. DOI: 10.1136/Annrheumdis-2020-Eular.2041  0.421
2019 Thompson DJ, Genovese G, Halvardson J, Ulirsch JC, Wright DJ, Terao C, Davidsson OB, Day FR, Sulem P, Jiang Y, Danielsson M, Davies H, Dennis J, Dunlop MG, Easton DF, ... ... McCarroll SA, et al. Genetic predisposition to mosaic Y chromosome loss in blood. Nature. PMID 31748747 DOI: 10.1038/S41586-019-1765-3  0.403
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, ... ... McCarroll SA, et al. Comparative genetic architectures of schizophrenia in East Asian and European populations. Nature Genetics. PMID 31740837 DOI: 10.1038/S41588-019-0512-X  0.451
2019 Bigdeli TB, Genovese G, Georgakopoulos P, Meyers JL, Peterson RE, Iyegbe CO, Medeiros H, Valderrama J, Achtyes ED, Kotov R, Stahl EA, Abbott C, Azevedo MH, Belliveau RA, Bevilacqua E, ... ... McCarroll SA, et al. Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry. Molecular Psychiatry. PMID 31591465 DOI: 10.1038/S41380-019-0517-Y  0.454
2019 Alliey-Rodriguez N, Grey TA, Shafee R, Asif H, Lutz O, Bolo NR, Padmanabhan J, Tandon N, Klinger M, Reis K, Spring J, Coppes L, Zeng V, Hegde RR, Hoang DT, ... ... McCarroll S, et al. NRXN1 is associated with enlargement of the temporal horns of the lateral ventricles in psychosis. Translational Psychiatry. 9: 230. PMID 31530798 DOI: 10.1038/S41398-019-0564-9  0.463
2019 Pardiñas AF, Holmans P, Pocklington AJ, Escott-Price V, Ripke S, Carrera N, Legge SE, Bishop S, Cameron D, Hamshere ML, Han J, Hubbard L, Lynham A, Mantripragada K, Rees E, ... ... McCarroll SA, et al. Publisher Correction: Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. Nature Genetics. PMID 31160808 DOI: 10.1038/S41588-019-0450-7  0.37
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, ... ... McCarroll S, et al. Genome-wide association study identifies 30 loci associated with bipolar disorder. Nature Genetics. PMID 31043756 DOI: 10.1038/S41588-019-0397-8  0.358
2019 Chaisson MJP, Sanders AD, Zhao X, Malhotra A, Porubsky D, Rausch T, Gardner EJ, Rodriguez OL, Guo L, Collins RL, Fan X, Wen J, Handsaker RE, Fairley S, Kronenberg ZN, ... ... McCarroll S, et al. Multi-platform discovery of haplotype-resolved structural variation in human genomes. Nature Communications. 10: 1784. PMID 30992455 DOI: 10.1038/S41467-018-08148-Z  0.444
2019 Thyme SB, Pieper LM, Li EH, Pandey S, Wang Y, Morris NS, Sha C, Choi JW, Herrera KJ, Soucy ER, Zimmerman S, Randlett O, Greenwood J, McCarroll SA, Schier AF. Phenotypic Landscape of Schizophrenia-Associated Genes Defines Candidates and Their Shared Functions. Cell. PMID 30929901 DOI: 10.2139/ssrn.3198823  0.464
2019 Szatkiewicz J, Crowley JJ, Adolfsson AN, Åberg KA, Alaerts M, Genovese G, McCarroll S, Del-Favero J, Adolfsson R, Sullivan PF. The genomics of major psychiatric disorders in a large pedigree from Northern Sweden. Translational Psychiatry. 9: 60. PMID 30718465 DOI: 10.1038/S41398-019-0414-9  0.453
2019 Haradhvala NJ, Zavidij O, Mouhieddine TH, Sklavenitis-Pistofidis R, Park J, Reidy M, Flaifel A, Ferland B, Manier S, Bustoros M, Huynh D, Capelletti M, Berrios B, Rahmat M, Liu C, ... ... McCarroll S, et al. Abstract 139: Single-cell RNA sequencing reveals compromised immune microenvironment in precursor stages of multiple myeloma Cancer Research. 79: 139-139. DOI: 10.1158/1538-7445.Am2019-139  0.302
2019 Bigdeli T, Aslan M, Genovese G, Iyegbe C, Charney A, Schooler N, Braff D, Muralidhar S, McCarroll S, Gaziano M, Pato M, Pato C, Harvey P, Fanous A. SHARED CONTRIBUTIONS OF COMMON GENETIC VARIANTS TO RISK OF PSYCHOSIS AMONG INDIVIDUALS OF AFRICAN, LATINO, AND EUROPEAN ANCESTRY European Neuropsychopharmacology. 29: S23-S24. DOI: 10.1016/J.Euroneuro.2019.07.047  0.372
2019 Peterson R, Bigdeli T, Meyers J, Genovese G, Pato M, McCarroll S, Pato C, Fanous A. SU119GENETIC OVERLAP AND CAUSALITY AMONG SCHIZOPHRENIA AND SUBSTANCE USE: FINDINGS FROM THE GENOMIC PSYCHIATRY COHORT European Neuropsychopharmacology. 29: S1330-S1331. DOI: 10.1016/J.Euroneuro.2018.08.483  0.403
2019 Shafee R, Handsaker R, Kamitaki N, Churchhouse C, Neale B, McCarroll S, Robinson E. SA122STRUCTURAL VARIATIONS OF SCHIZOPHRENIA RISK GENE COMPLEMENT COMPONENT 4 (C4) AND BRAIN MRI PHENOTYPES European Neuropsychopharmacology. 29: S1255-S1256. DOI: 10.1016/J.Euroneuro.2018.08.344  0.357
2019 Bigdeli T, Genovese G, Medeiros H, Sobell J, Knowles J, Pato M, Fanous A, McCarroll S, Pato C. F118Contributions Of Common Genetic Variants To Schizophrenia Risk In Individuals With African And Latino Ancestry European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2018.08.198  0.406
2019 Bigdeli T, Bacanu S, Kelly B, Maher B, Knowles J, McCarroll S, Pato M, Pato C, Fanous A. WHOLE GENOME SEQUENCING OF MULTIPLY-AFFECTED SCHIZOPHRENIA AND BIPOLAR DISORDER FAMILIES FROM THE AZORES AND MADEIRA European Neuropsychopharmacology. 29: S1002-S1003. DOI: 10.1016/J.Euroneuro.2017.08.394  0.468
2019 Alliey N, Gershon E, Grey TA, Shafee R, Tandon N, Coppes L, Keedy S, McCarroll S, Pearlson G, Keshavan M, Clementz BA, Tamminga C. COMMON VARIANTS OF NRXN1, LRP1B AND RORA ARE ASSOCIATED WITH INCREASED VENTRICULAR VOLUMES IN SCHIZOPHRENIA AND BIPOLAR DISORDER European Neuropsychopharmacology. 29: S924-S925. DOI: 10.1016/J.Euroneuro.2017.08.257  0.464
2019 Crowley J, Mudgal P, Adolfsson AN, Åberg K, Alaerts M, Genovese G, McCarroll S, Del-Favero J, Adolfsson R, Sullivan P. The genomics of bipolar and schizophrenic disorders in a large pedigree from a northern Swedish isolate European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2017.08.217  0.381
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  0.37
2018 Charney AW, Stahl EA, Green EK, Chen CY, Moran JL, Chambert K, Belliveau RA, Forty L, Gordon-Smith K, Lee PH, Bromet EJ, Buckley PF, Escamilla MA, Fanous AH, Fochtmann LJ, ... ... McCarroll SA, et al. Contribution of Rare Copy Number Variants to Bipolar Disorder Risk Is Limited to Schizoaffective Cases. Biological Psychiatry. PMID 30686506 DOI: 10.1016/J.Biopsych.2018.12.009  0.357
2018 Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, ... ... McCarroll SA, et al. The Genetic Landscape of Diamond-Blackfan Anemia. American Journal of Human Genetics. PMID 30503522 DOI: 10.1016/J.Ajhg.2018.10.027  0.399
2018 Loh PR, Genovese G, Handsaker RE, Finucane HK, Reshef YA, Palamara PF, Birmann BM, Talkowski ME, Bakhoum SF, McCarroll SA, Price AL. Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations. Nature. PMID 29995854 DOI: 10.1038/S41586-018-0321-X  0.386
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, ... ... McCarroll S, 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  0.391
2018 Estrada K, Whelan CW, Zhao F, Bronson P, Handsaker RE, Sun C, Carulli JP, Harris T, Ransohoff RM, McCarroll SA, Day-Williams AG, Greenberg BM, MacArthur DG. A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica. Nature Communications. 9: 1929. PMID 29769526 DOI: 10.1038/S41467-018-04332-3  0.434
2018 Kamitaki N, Usher CL, McCarroll SA. Using Droplet Digital PCR to Analyze Allele-Specific RNA Expression. Methods in Molecular Biology (Clifton, N.J.). 1768: 401-422. PMID 29717456 DOI: 10.1007/978-1-4939-7778-9_23  0.427
2018 Bell AD, Usher CL, McCarroll SA. Analyzing Copy Number Variation with Droplet Digital PCR. Methods in Molecular Biology (Clifton, N.J.). 1768: 143-160. PMID 29717442 DOI: 10.1007/978-1-4939-7778-9_9  0.391
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, ... ... McCarroll SA, 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  0.469
2018 Shafee R, Nanda P, Padmanabhan JL, Tandon N, Alliey-Rodriguez N, Kalapurakkel S, Weiner DJ, Gur RE, Keefe RSE, Hill SK, Bishop JR, Clementz BA, Tamminga CA, Gershon ES, Pearlson GD, ... ... McCarroll SA, et al. Polygenic risk for schizophrenia and measured domains of cognition in individuals with psychosis and controls. Translational Psychiatry. 8: 78. PMID 29643358 DOI: 10.1038/S41398-018-0124-8  0.392
2018 Gusev A, Mancuso N, Won H, Kousi M, Finucane HK, Reshef Y, Song L, Safi A, McCarroll S, Neale BM, Ophoff RA, O'Donovan MC, Crawford GE, Geschwind DH, et al. Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights. Nature Genetics. 50: 538-548. PMID 29632383 DOI: 10.1038/S41588-018-0092-1  0.475
2018 Finucane HK, Reshef YA, Anttila V, Slowikowski K, Gusev A, Byrnes A, Gazal S, Loh PR, Lareau C, Shoresh N, Genovese G, Saunders A, Macosko E, Pollack S, ... ... McCarroll S, et al. Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types. Nature Genetics. 50: 621-629. PMID 29632380 DOI: 10.1038/S41588-018-0081-4  0.394
2018 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, ... ... McCarroll SA, et al. Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium. Nature Neuroscience. PMID 29549319 DOI: 10.1038/S41593-018-0102-8  0.31
2018 Pardiñas AF, Holmans P, Pocklington AJ, Escott-Price V, Ripke S, Carrera N, Legge SE, Bishop S, Cameron D, Hamshere ML, Han J, Hubbard L, Lynham A, Mantripragada K, Rees E, ... ... McCarroll SA, et al. Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. Nature Genetics. PMID 29483656 DOI: 10.1038/S41588-018-0059-2  0.506
2018 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, ... ... McCarroll SA, et al. Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia. Molecular Psychiatry. 23: 162-163. PMID 29296025 DOI: 10.1038/Mp.2017.214  0.303
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, ... ... McCarroll SA, 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  0.416
2017 Lin WY, Chen WJ, Liu CM, Hwu HG, McCarroll SA, Glatt SJ, Tsuang MT. Adaptive combination of Bayes factors as a powerful method for the joint analysis of rare and common variants. Scientific Reports. 7: 13858. PMID 29066733 DOI: 10.1038/S41598-017-13177-7  0.424
2017 Lencer R, Mills LJ, Alliey-Rodriguez N, Shafee R, Lee AM, Reilly JL, Sprenger A, McDowell JE, McCarroll SA, Keshavan MS, Pearlson GD, Tamminga CA, Clementz BA, Gershon ES, Sweeney JA, et al. Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study. Translational Psychiatry. 7: e1249. PMID 29064472 DOI: 10.1038/Tp.2017.210  0.425
2017 Mercader JM, Liao RG, Davis A, Dymek Z, Estrada K, Tukiainen T, Huerta-Chagoya A, Moreno-Macías H, Jablonski KA, Hanson RL, Walford GA, Moran I, Chen L, Agarwala V, Ordoñez-Sánchez ML, ... ... McCarroll SA, et al. A Loss-Of-Function Splice Acceptor Variant in IGF2 is Protective for Type 2 Diabetes. Diabetes. PMID 28838971 DOI: 10.2337/Db17-0187  0.398
2017 Leonenko G, Richards AL, Walters JT, Pocklington A, Chambert K, Al Eissa MM, Sharp SI, O'Brien NL, Curtis D, Bass NJ, McQuillin A, Hultman C, Moran JL, McCarroll SA, Sklar P, et al. Mutation intolerant genes and targets of FMRP are enriched for nonsynonymous alleles in schizophrenia. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 28719003 DOI: 10.1002/Ajmg.B.32560  0.454
2017 Merkle FT, Ghosh S, Kamitaki N, Mitchell J, Avior Y, Mello C, Kashin S, Mekhoubad S, Ilic D, Charlton M, Saphier G, Handsaker RE, Genovese G, Bar S, Benvenisty N, ... McCarroll SA, et al. Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations. Nature. PMID 28445466 DOI: 10.1038/Nature22312  0.336
2017 Campbell JN, Macosko EZ, Fenselau H, Pers TH, Lyubetskaya A, Tenen D, Goldman M, Verstegen AM, Resch JM, McCarroll SA, Rosen ED, Lowell BB, Tsai LT. A molecular census of arcuate hypothalamus and median eminence cell types. Nature Neuroscience. PMID 28166221 DOI: 10.1038/Nn.4495  0.331
2017 Charney AW, Ruderfer DM, Stahl EA, Moran JL, Chambert K, Belliveau RA, Forty L, Gordon-Smith K, Di Florio A, Lee PH, Bromet EJ, Buckley PF, Escamilla MA, Fanous AH, Fochtmann LJ, ... ... McCarroll SA, et al. Evidence for genetic heterogeneity between clinical subtypes of bipolar disorder. Translational Psychiatry. 7: e993. PMID 28072414 DOI: 10.1038/Tp.2016.242  0.454
2017 McCarroll S. 113. Genetic and Single-Cell Resolution Analyses of Brain and Schizophrenia Schizophrenia Bulletin. 43. DOI: 10.1093/Schbul/Sbx021.151  0.366
2017 Lencer R, Mills LJ, Alliey-Rodriguez N, Reilly JL, Sprenger A, McDowell JE, Keshavan MS, Pearlson GD, McCarroll S, Tamminga CA, Clementz BA, Gershon ES, Sweeney JA, Bishop JR. Genome-Wide Association Studies Of Smooth Pursuit Eye Movements Across Psychotic Disorders: Preliminary Findings From The B-Snip Sample European Neuropsychopharmacology. 27. DOI: 10.1016/J.Euroneuro.2016.09.580  0.339
2017 Alliey N, Grey TA, Shafee R, Padmanabhan J, Tandon N, Gage D, McCarroll S, Bishop JR, Keshavan MS, Buckley P, Pearlson G, Tamminga C, Sweeney J, Keedy S, Gershon E. Gwas Of Bsnip Biofactors And Biotypes As Intermediate Phenotypes For Psychosis European Neuropsychopharmacology. 27: S439-S440. DOI: 10.1016/J.Euroneuro.2016.09.501  0.405
2017 Howrigan D, Samocha K, Kosmicki J, Moran J, Chambert K, Fromer M, Chandler S, Laird N, Hwu H, Chen WJ, Faraone S, Glatt S, Tsuang M, McCarroll S, Neale B. Damaging Missense De Novo Coding Mutations Contribute To Schizophrenia Risk European Neuropsychopharmacology. 27. DOI: 10.1016/J.Euroneuro.2016.09.481  0.326
2017 Genovese G, Fromer M, Stahl E, Ruderfer D, Chambert K, Landen M, Moran J, Purcell S, Sklar P, Sullivan P, Hultman C, McCarroll S. Ultra-Rare Protein-Altering Variants Among 4,877 Swedish Individuals with Schizophrenia European Neuropsychopharmacology. 27: S426-S427. DOI: 10.1016/J.Euroneuro.2016.09.480  0.365
2016 Genovese G, Fromer M, Stahl EA, Ruderfer DM, Chambert K, Landén M, Moran JL, Purcell SM, Sklar P, Sullivan PF, Hultman CM, McCarroll SA. Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia. Nature Neuroscience. PMID 27694994 DOI: 10.1038/Nn.4402  0.43
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, ... ... McCarroll SA, et al. Ultra-rare disruptive and damaging mutations influence educational attainment in the general population. Nature Neuroscience. PMID 27694993 DOI: 10.1038/Nn.4404  0.385
2016 McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A, Kang HM, Fuchsberger C, Danecek P, Sharp K, Luo Y, Sidore C, Kwong A, Timpson N, Koskinen S, ... ... McCarroll S, et al. A reference panel of 64,976 haplotypes for genotype imputation. Nature Genetics. PMID 27548312 DOI: 10.1038/Ng.3643  0.411
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, ... ... McCarroll S, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 536: 285-291. PMID 27535533 DOI: 10.1038/Nature19057  0.418
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, ... ... McCarroll SA, 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  0.335
2016 Kim MJ, Biag J, Fass DM, Lewis MC, Zhang Q, Fleishman M, Gangwar SP, Machius M, Fromer M, Purcell SM, McCarroll SA, Rudenko G, Premont RT, Scolnick EM, Haggarty SJ. Functional analysis of rare variants found in schizophrenia implicates a critical role for GIT1-PAK3 signaling in neuroplasticity. Molecular Psychiatry. PMID 27457813 DOI: 10.1038/Mp.2016.98  0.393
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, ... ... McCarroll SA, 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  0.488
2016 Poznik GD, Xue Y, Mendez FL, Willems TF, Massaia A, Wilson Sayres MA, Ayub Q, McCarthy SA, Narechania A, Kashin S, Chen Y, Banerjee R, Rodriguez-Flores JL, Cerezo M, Shao H, ... ... McCarroll SA, et al. Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences. Nature Genetics. PMID 27111036 DOI: 10.1038/Ng.3559  0.422
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, ... ... McCarroll SA, 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  0.346
2016 Boettger LM, Salem RM, Handsaker RE, Peloso GM, Kathiresan S, Hirschhorn JN, McCarroll SA. Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels. Nature Genetics. PMID 26901066 DOI: 10.1038/Ng.3510  0.408
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, ... ... McCarroll SA, et al. Schizophrenia risk from complex variation of complement component 4. Nature. PMID 26814963 DOI: 10.1038/Nature16549  0.403
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, ... ... McCarroll S, et al. Quantifying prion disease penetrance using large population control cohorts. Science Translational Medicine. 8: 322ra9. PMID 26791950 DOI: 10.1126/Scitranslmed.Aad5169  0.374
2016 Richards AL, Leonenko G, Walters JT, Kavanagh DH, Rees EG, Evans A, Chambert KD, Moran JL, Goldstein J, Neale BM, McCarroll SA, Pocklington AJ, Holmans PA, Owen MJ, O'Donovan MC. Exome arrays capture polygenic rare variant contributions to schizophrenia. Human Molecular Genetics. PMID 26740555 DOI: 10.1093/Hmg/Ddv620  0.531
2015 Hubbard L, Tansey KE, Rai D, Jones P, Ripke S, Chambert KD, Moran JL, McCarroll SA, Linden DE, Owen MJ, O'Donovan MC, Walters JT, Zammit S. Evidence of Common Genetic Overlap Between Schizophrenia and Cognition. Schizophrenia Bulletin. PMID 26678674 DOI: 10.1093/Schbul/Sbv168  0.375
2015 Song J, Bergen SE, Di Florio A, Karlsson R, Charney A, Ruderfer DM, Stahl EA, Chambert KD, Moran JL, Gordon-Smith K, Forty L, Green EK, Jones I, Jones L, ... ... McCarroll S, et al. Genome-wide association study identifies SESTD1 as a novel risk gene for lithium-responsive bipolar disorder. Molecular Psychiatry. PMID 26503763 DOI: 10.1038/Mp.2015.165  0.429
2015 Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abyzov A, Huddleston J, Zhang Y, Ye K, Jun G, Hsi-Yang Fritz M, Konkel MK, Malhotra A, Stütz AM, Shi X, Paolo Casale F, ... ... McCarroll SA, et al. An integrated map of structural variation in 2,504 human genomes. Nature. 526: 75-81. PMID 26432246 DOI: 10.1038/Nature15394  0.456
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, ... ... McCarroll S, 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  0.32
2015 Tansey KE, Rees E, Linden DE, Ripke S, Chambert KD, Moran JL, McCarroll SA, Holmans P, Kirov G, Walters J, Owen MJ, O'Donovan MC. Common alleles contribute to schizophrenia in CNV carriers. Molecular Psychiatry. PMID 26390827 DOI: 10.1038/Mp.2015.143  0.449
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, ... ... McCarroll SA, 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  0.394
2015 Rees E, Kirov G, Walters JT, Richards AL, Howrigan D, Kavanagh DH, Pocklington AJ, Fromer M, Ruderfer DM, Georgieva L, Carrera N, Gormley P, Palta P, Williams H, Dwyer S, ... ... McCarroll SA, et al. Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia. Translational Psychiatry. 5: e607. PMID 26196440 DOI: 10.1038/Tp.2015.99  0.468
2015 Usher CL, McCarroll SA. Complex and multi-allelic copy number variation in human disease. Briefings in Functional Genomics. 14: 329-38. PMID 26163405 DOI: 10.1093/Bfgp/Elv028  0.444
2015 Usher CL, Handsaker RE, Esko T, Tuke MA, Weedon MN, Hastie AR, Cao H, Moon JE, Kashin S, Fuchsberger C, Metspalu A, Pato CN, Pato MT, McCarthy MI, Boehnke M, ... ... McCarroll SA, et al. Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity. Nature Genetics. PMID 26098870 DOI: 10.1038/Ng.3340  0.429
2015 Pocklington AJ, Rees E, Walters JT, Han J, Kavanagh DH, Chambert KD, Holmans P, Moran JL, McCarroll SA, Kirov G, O'Donovan MC, Owen MJ. Novel Findings from CNVs Implicate Inhibitory and Excitatory Signaling Complexes in Schizophrenia. Neuron. 86: 1203-14. PMID 26050040 DOI: 10.1016/J.Neuron.2015.04.022  0.442
2015 Macosko EZ, Basu A, Satija R, Nemesh J, Shekhar K, Goldman M, Tirosh I, Bialas AR, Kamitaki N, Martersteck EM, Trombetta JJ, Weitz DA, Sanes JR, Shalek AK, Regev A, ... McCarroll SA, et al. Highly Parallel Genome-wide Expression Profiling of Individual Cells Using Nanoliter Droplets. Cell. 161: 1202-14. PMID 26000488 DOI: 10.1016/J.Cell.2015.05.002  0.338
2015 Regan JF, Kamitaki N, Legler T, Cooper S, Klitgord N, Karlin-Neumann G, Wong C, Hodges S, Koehler R, Tzonev S, McCarroll SA. A rapid molecular approach for chromosomal phasing. Plos One. 10: e0118270. PMID 25739099 DOI: 10.1371/Journal.Pone.0118270  0.359
2015 Madison JM, Zhou F, Nigam A, Hussain A, Barker DD, Nehme R, van der Ven K, Hsu J, Wolf P, Fleishman M, O'Dushlaine C, Rose S, Chambert K, Lau FH, Ahfeldt T, ... ... McCarroll S, et al. Characterization of bipolar disorder patient-specific induced pluripotent stem cells from a family reveals neurodevelopmental and mRNA expression abnormalities. Molecular Psychiatry. 20: 703-17. PMID 25733313 DOI: 10.1038/Mp.2015.7  0.323
2015 Handsaker RE, Van Doren V, Berman JR, Genovese G, Kashin S, Boettger LM, McCarroll SA. Large multiallelic copy number variations in humans. Nature Genetics. 47: 296-303. PMID 25621458 DOI: 10.1038/Ng.3200  0.481
2015 Green EK, Rees E, Walters JT, Smith KG, Forty L, Grozeva D, Moran JL, Sklar P, Ripke S, Chambert KD, Genovese G, McCarroll SA, Jones I, Jones L, Owen MJ, et al. Copy number variation in bipolar disorder. Molecular Psychiatry. PMID 25560756 DOI: 10.1038/Mp.2014.174  0.374
2015 Ruderfer DM, Lim ET, Genovese G, Moran JL, Hultman CM, Sullivan PF, McCarroll SA, Holmans P, Sklar P, Purcell SM. No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia. European Journal of Human Genetics : Ejhg. 23: 555-7. PMID 25370044 DOI: 10.1038/Ejhg.2014.228  0.49
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, ... McCarroll SA, 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  0.442
2014 Koren A, Handsaker RE, Kamitaki N, Karli? R, Ghosh S, Polak P, Eggan K, McCarroll SA. Genetic variation in human DNA replication timing. Cell. 159: 1015-26. PMID 25416942 DOI: 10.1016/J.Cell.2014.10.025  0.438
2014 Brand H, Pillalamarri V, Collins RL, Eggert S, O'Dushlaine C, Braaten EB, Stone MR, Chambert K, Doty ND, Hanscom C, Rosenfeld JA, Ditmars H, Blais J, Mills R, Lee C, ... ... McCarroll S, et al. Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders. American Journal of Human Genetics. 95: 454-61. PMID 25279985 DOI: 10.1016/J.Ajhg.2014.09.005  0.432
2014 Georgieva L, Rees E, Moran JL, Chambert KD, Milanova V, Craddock N, Purcell S, Sklar P, McCarroll S, Holmans P, O'Donovan MC, Owen MJ, Kirov G. De novo CNVs in bipolar affective disorder and schizophrenia. Human Molecular Genetics. 23: 6677-83. PMID 25055870 DOI: 10.1093/Hmg/Ddu379  0.406
2014 Francioli LC, Menelaou A, Pulit SL, Van Dijk F, Palamara PF, Elbers CC, Neerincx PBT, Ye K, Guryev V, Kloosterman WP, Deelen P, Abdellaoui A, Van Leeuwen EM, Van Oven M, Vermaat M, ... ... McCarroll SA, et al. Whole-genome sequence variation, population structure and demographic history of the Dutch population Nature Genetics. 46: 818-825. PMID 24974849 DOI: 10.1038/Ng.3021  0.32
2014 McCarroll SA, Feng G, Hyman SE. Genome-scale neurogenetics: methodology and meaning. Nature Neuroscience. 17: 756-63. PMID 24866041 DOI: 10.1038/Nn.3716  0.453
2014 Szatkiewicz JP, O'Dushlaine C, Chen G, Chambert K, Moran JL, Neale BM, Fromer M, Ruderfer D, Akterin S, Bergen SE, Kähler A, Magnusson PK, Kim Y, Crowley JJ, Rees E, ... ... McCarroll SA, et al. Copy number variation in schizophrenia in Sweden. Molecular Psychiatry. 19: 762-73. PMID 24776740 DOI: 10.1038/Mp.2014.40  0.512
2014 Purcell SM, Moran JL, Fromer M, Ruderfer D, Solovieff N, Roussos P, O'Dushlaine C, Chambert K, Bergen SE, Kähler A, Duncan L, Stahl E, Genovese G, Fernández E, Collins MO, ... ... McCarroll SA, et al. A polygenic burden of rare disruptive mutations in schizophrenia. Nature. 506: 185-90. PMID 24463508 DOI: 10.1038/Nature12975  0.473
2014 Fromer M, Pocklington AJ, Kavanagh DH, Williams HJ, Dwyer S, Gormley P, Georgieva L, Rees E, Palta P, Ruderfer DM, Carrera N, Humphreys I, Johnson JS, Roussos P, Barker DD, ... ... McCarroll SA, et al. De novo mutations in schizophrenia implicate synaptic networks. Nature. 506: 179-84. PMID 24463507 DOI: 10.1038/Nature12929  0.374
2014 Rees E, Walters JT, Georgieva L, Isles AR, Chambert KD, Richards AL, Mahoney-Davies G, Legge SE, Moran JL, McCarroll SA, O'Donovan MC, Owen MJ, Kirov G. Analysis of copy number variations at 15 schizophrenia-associated loci. The British Journal of Psychiatry : the Journal of Mental Science. 204: 108-14. PMID 24311552 DOI: 10.1192/Bjp.Bp.113.131052  0.41
2014 Rees E, Kirov G, Sanders A, Walters JT, Chambert KD, Shi J, Szatkiewicz J, O'Dushlaine C, Richards AL, Green EK, Jones I, Davies G, Legge SE, Moran JL, Pato C, ... ... McCarroll SA, et al. Evidence that duplications of 22q11.2 protect against schizophrenia. Molecular Psychiatry. 19: 37-40. PMID 24217254 DOI: 10.1038/Mp.2013.156  0.405
2014 Rees E, Walters JT, Chambert KD, O'Dushlaine C, Szatkiewicz J, Richards AL, Georgieva L, Mahoney-Davies G, Legge SE, Moran JL, Genovese G, Levinson D, Morris DW, Cormican P, Kendler KS, ... ... McCarroll SA, et al. CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1. Human Molecular Genetics. 23: 1669-76. PMID 24163246 DOI: 10.1093/Hmg/Ddt540  0.437
2014 Koren A, McCarroll SA. Random replication of the inactive X chromosome. Genome Research. 24: 64-9. PMID 24065775 DOI: 10.1101/Gr.161828.113  0.311
2014 Kirov G, Rees E, Walters JT, Escott-Price V, Georgieva L, Richards AL, Chambert KD, Davies G, Legge SE, Moran JL, McCarroll SA, O'Donovan MC, Owen MJ. The penetrance of copy number variations for schizophrenia and developmental delay. Biological Psychiatry. 75: 378-85. PMID 23992924 DOI: 10.1016/J.Biopsych.2013.07.022  0.366
2014 Macciardi F, Guffanti G, Fallon J, Erp TGMv, Pato M, Potkin SG, Knowles JA, McCarroll SA, Pato CN, Gaudi S. Poster #T149 LINE1 POLYMORPHIC RETROTRANSPOSITIONS IN SCHIZOPHRENIA Schizophrenia Research. 153. DOI: 10.1016/S0920-9964(14)70966-1  0.314
2014 Legge S, Hamshere M, Ripke S, Richards A, Moran J, Chambert K, McCarroll SA, Rujescu D, O'Donovan M, Owen M, Walters JTR. 5:15 Pm Novel Genetic Risk Variants For Clozapine-Associated Neutropenia Schizophrenia Research. 153. DOI: 10.1016/S0920-9964(14)70214-2  0.357
2014 Walters JTR, Pocklington A, Rees E, Ripke S, Moran J, McCarroll SA, Kirov G, O'Donovan M, Owen M. 5:00 Pm Dopamine Or Glutamate: Using Genetic Copy Number Variant Pathway Analysis And Treatment Resistance To Adjudicate Schizophrenia Hypotheses Schizophrenia Research. 153. DOI: 10.1016/S0920-9964(14)70195-1  0.352
2013 McCarroll SA, Hyman SE. Progress in the genetics of polygenic brain disorders: significant new challenges for neurobiology. Neuron. 80: 578-87. PMID 24183011 DOI: 10.1016/J.Neuron.2013.10.046  0.419
2013 Macosko EZ, McCarroll SA. Genetics. Our fallen genomes. Science (New York, N.Y.). 342: 564-5. PMID 24179207 DOI: 10.1126/Science.1246942  0.387
2013 Ripke S, O'Dushlaine C, Chambert K, Moran JL, Kähler AK, Akterin S, Bergen SE, Collins AL, Crowley JJ, Fromer M, Kim Y, Lee SH, Magnusson PK, Sanchez N, Stahl EA, ... ... McCarroll SA, et al. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nature Genetics. 45: 1150-9. PMID 23974872 DOI: 10.1038/Ng.2742  0.485
2013 Szatkiewicz JP, Neale BM, O'Dushlaine C, Fromer M, Goldstein JI, Moran JL, Chambert K, Kähler A, Magnusson PK, Hultman CM, Sklar P, Purcell S, McCarroll SA, Sullivan PF. Detecting large copy number variants using exome genotyping arrays in a large Swedish schizophrenia sample. Molecular Psychiatry. 18: 1178-84. PMID 23938935 DOI: 10.1038/Mp.2013.98  0.468
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, ... ... McCarroll SA, 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  0.359
2013 Genovese G, Handsaker RE, Li H, Kenny EE, McCarroll SA. Mapping the human reference genome's missing sequence by three-way admixture in Latino genomes. American Journal of Human Genetics. 93: 411-21. PMID 23932108 DOI: 10.1016/J.Ajhg.2013.07.002  0.4
2013 Patil CK, McCarroll SA. Of rats and men. Cell. 154: 481-3. PMID 23911315 DOI: 10.1016/J.Cell.2013.07.022  0.338
2013 Lawrence MS, Stojanov P, Polak P, Kryukov GV, Cibulskis K, Sivachenko A, Carter SL, Stewart C, Mermel CH, Roberts SA, Kiezun A, Hammerman PS, McKenna A, Drier Y, Zou L, ... ... McCarroll SA, et al. Mutational heterogeneity in cancer and the search for new cancer-associated genes. Nature. 499: 214-8. PMID 23770567 DOI: 10.1038/Nature12213  0.359
2013 den Hoed M, Eijgelsheim M, Esko T, Brundel BJ, Peal DS, Evans DM, Nolte IM, Segrè AV, Holm H, Handsaker RE, Westra HJ, Johnson T, Isaacs A, Yang J, Lundby A, ... ... McCarroll SA, et al. Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nature Genetics. 45: 621-31. PMID 23583979 DOI: 10.1038/Ng.2610  0.308
2013 Chen Z, Tang H, Qayyum R, Schick UM, Nalls MA, Handsaker R, Li J, Lu Y, Yanek LR, Keating B, Meng Y, van Rooij FJ, Okada Y, Kubo M, Rasmussen-Torvik L, ... ... McCarroll S, et al. Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. Human Molecular Genetics. 22: 2529-38. PMID 23446634 DOI: 10.1093/Hmg/Ddt087  0.45
2013 Genovese G, Handsaker RE, Li H, Altemose N, Lindgren AM, Chambert K, Pasaniuc B, Price AL, Reich D, Morton CC, Pollak MR, Wilson JG, McCarroll SA. Using population admixture to help complete maps of the human genome. Nature Genetics. 45: 406-14, 414e1-2. PMID 23435088 DOI: 10.1038/Ng.2565  0.431
2012 Michaelson JJ, Shi Y, Gujral M, Zheng H, Malhotra D, Jin X, Jian M, Liu G, Greer D, Bhandari A, Wu W, Corominas R, Peoples A, Koren A, Gore A, ... ... McCarroll S, et al. Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell. 151: 1431-42. PMID 23260136 DOI: 10.1016/J.Cell.2012.11.019  0.419
2012 Koren A, Polak P, Nemesh J, Michaelson JJ, Sebat J, Sunyaev SR, McCarroll SA. Differential relationship of DNA replication timing to different forms of human mutation and variation. American Journal of Human Genetics. 91: 1033-40. PMID 23176822 DOI: 10.1016/J.Ajhg.2012.10.018  0.361
2012 Fromer M, Moran JL, Chambert K, Banks E, Bergen SE, Ruderfer DM, Handsaker RE, McCarroll SA, O'Donovan MC, Owen MJ, Kirov G, Sullivan PF, Hultman CM, Sklar P, Purcell SM. Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. American Journal of Human Genetics. 91: 597-607. PMID 23040492 DOI: 10.1016/J.Ajhg.2012.08.005  0.455
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, ... McCarroll SA, 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  0.357
2012 Boettger LM, Handsaker RE, Zody MC, McCarroll SA. Structural haplotypes and recent evolution of the human 17q21.31 region. Nature Genetics. 44: 881-5. PMID 22751096 DOI: 10.1038/Ng.2334  0.394
2012 Bergen SE, O'Dushlaine CT, Ripke S, Lee PH, Ruderfer DM, Akterin S, Moran JL, Chambert KD, Handsaker RE, Backlund L, Ösby U, McCarroll S, Landen M, Scolnick EM, Magnusson PK, et al. Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder. Molecular Psychiatry. 17: 880-6. PMID 22688191 DOI: 10.1038/Mp.2012.73  0.434
2012 Macosko EZ, McCarroll SA. Exploring the variation within. Nature Genetics. 44: 614-6. PMID 22641203 DOI: 10.1038/Ng.2311  0.367
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, ... ... McCarroll SA, ... ... McCarroll SA, 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  0.336
2012 MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J, Walter K, Jostins L, Habegger L, Pickrell JK, Montgomery SB, Albers CA, Zhang ZD, Conrad DF, Lunter G, Zheng H, ... ... McCarroll SA, et al. A systematic survey of loss-of-function variants in human protein-coding genes. Science (New York, N.Y.). 335: 823-8. PMID 22344438 DOI: 10.1126/Science.1215040  0.45
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, ... ... McCarroll SA, ... ... McCarroll SA, 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  0.417
2011 Price AL, Helgason A, Thorleifsson G, McCarroll SA, Kong A, Stefansson K. Single-tissue and cross-tissue heritability of gene expression via identity-by-descent in related or unrelated individuals. Plos Genetics. 7: e1001317. PMID 21383966 DOI: 10.1371/Journal.Pgen.1001317  0.317
2011 Handsaker RE, Korn JM, Nemesh J, McCarroll SA. Discovery and genotyping of genome structural polymorphism by sequencing on a population scale. Nature Genetics. 43: 269-76. PMID 21317889 DOI: 10.1038/Ng.768  0.419
2011 Haataja R, Karjalainen MK, Luukkonen A, Teramo K, Puttonen H, Ojaniemi M, Varilo T, Chaudhari BP, Plunkett J, Murray JC, McCarroll SA, Peltonen L, Muglia LJ, Palotie A, Hallman M. Mapping a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis. Plos Genetics. 7: e1001293. PMID 21304894 DOI: 10.1371/Journal.Pgen.1001293  0.426
2011 Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, Chinwalla A, Conrad DF, Fu Y, Grubert F, Hajirasouliha I, ... ... McCarroll SA, et al. Mapping copy number variation by population-scale genome sequencing. Nature. 470: 59-65. PMID 21293372 DOI: 10.1038/Nature09708  0.417
2011 Lo KS, Wilson JG, Lange LA, Folsom AR, Galarneau G, Ganesh SK, Grant SF, Keating BJ, McCarroll SA, Mohler ER, O'Donnell CJ, Palmas W, Tang W, Tracy RP, Reiner AP, et al. Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans. Human Genetics. 129: 307-17. PMID 21153663 DOI: 10.1007/S00439-010-0925-1  0.391
2010 Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G, Jackson AU, Lango Allen H, Lindgren CM, Luan J, Mägi R, Randall JC, Vedantam S, Winkler TW, Qi L, Workalemahu T, ... ... McCarroll SA, et al. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nature Genetics. 42: 937-48. PMID 20935630 DOI: 10.1038/Ng.686  0.368
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  0.392
2010 McCarroll SA. Copy number variation and human genome maps. Nature Genetics. 42: 365-6. PMID 20428091 DOI: 10.1038/Ng0510-365  0.37
2010 Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL, Lindgren CM, Mägi R, Morris AP, Randall J, Johnson T, ... ... McCarroll SA, et al. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nature Genetics. 42: 105-16. PMID 20081858 DOI: 10.1038/Ng.520  0.318
2010 McCarroll SA. Genome Variation and Donor-Recipient Compatibility in Graft-Versus-Host Disease Blood. 116. DOI: 10.1182/Blood.V116.21.Sci-12.Sci-12  0.446
2009 McCarroll SA, Bradner JE, Turpeinen H, Volin L, Martin PJ, Chilewski SD, Antin JH, Lee SJ, Ruutu T, Storer B, Warren EH, Zhang B, Zhao LP, Ginsburg D, Soiffer RJ, et al. Donor-recipient mismatch for common gene deletion polymorphisms in graft-versus-host disease. Nature Genetics. 41: 1341-4. PMID 19935662 DOI: 10.1038/Ng.490  0.353
2009 Chiang DY, McCarroll SA. Mapping duplicated sequences. Nature Biotechnology. 27: 1001-2. PMID 19898454 DOI: 10.1038/Nbt1109-1001  0.309
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, ... ... McCarroll S, et al. A genome-wide linkage and association scan reveals novel loci for autism Nature. 461: 802-808. PMID 19812673 DOI: 10.1038/Nature08490  0.488
2009 Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, ... ... McCarroll SA, et al. Finding the missing heritability of complex diseases. Nature. 461: 747-53. PMID 19812666 DOI: 10.1038/Nature08494  0.421
2009 Greenway SC, Pereira AC, Lin JC, DePalma SR, Israel SJ, Mesquita SM, Ergul E, Conta JH, Korn JM, McCarroll SA, Gorham JM, Gabriel S, Altshuler DM, Quintanilla-Dieck Mde L, Artunduaga MA, et al. De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nature Genetics. 41: 931-5. PMID 19597493 DOI: 10.1038/Ng.415  0.428
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, ... ... McCarroll SA, 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  0.427
2009 Willer CJ, Speliotes EK, Loos RJ, Li S, Lindgren CM, Heid IM, Berndt SI, Elliott AL, Jackson AU, Lamina C, Lettre G, Lim N, Lyon HN, McCarroll SA, Papadakis K, et al. Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nature Genetics. 41: 25-34. PMID 19079261 DOI: 10.1038/Ng.287  0.36
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  0.363
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, 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  0.381
2008 McCarroll SA. Extending genome-wide association studies to copy-number variation. Human Molecular Genetics. 17: R135-42. PMID 18852202 DOI: 10.1093/Hmg/Ddn282  0.491
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  0.414
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, 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  0.461
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, ... ... McCarroll SA, et al. Rare chromosomal deletions and duplications increase risk of schizophrenia Nature. 455: 237-241. PMID 18668038 DOI: 10.1038/Nature07239  0.364
2008 Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, Hansen N, Teague B, Alkan C, Antonacci F, Haugen E, Zerr T, Yamada NA, Tsang P, Newman TL, ... ... McCarroll SA, et al. Mapping and sequencing of structural variation from eight human genomes. Nature. 453: 56-64. PMID 18451855 DOI: 10.1038/Nature06862  0.437
2008 Shen F, Huang J, Fitch KR, Truong VB, Kirby A, Chen W, Zhang J, Liu G, McCarroll SA, Jones KW, Shapero MH. Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes. Bmc Genetics. 9: 27. PMID 18373861 DOI: 10.1186/1471-2156-9-27  0.418
2008 McCarroll SA. Copy-number analysis goes more than skin deep. Nature Genetics. 40: 5-6. PMID 18163125 DOI: 10.1038/Ng0108-5  0.365
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, ... ... McCarroll S, et al. Genome-wide detection and characterization of positive selection in human populations. Nature. 449: 913-8. PMID 17943131 DOI: 10.1038/Nature06250  0.393
2007 McCarroll SA, Altshuler DM. Copy-number variation and association studies of human disease. Nature Genetics. 39: S37-42. PMID 17597780 DOI: 10.1038/Ng2080  0.446
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, 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  0.371
2006 Myers SR, McCarroll SA. New insights into the biological basis of genomic disorders. Nature Genetics. 38: 1363-4. PMID 17133221 DOI: 10.1038/Ng1206-1363  0.414
2006 Locke DP, Sharp AJ, McCarroll SA, McGrath SD, Newman TL, Cheng Z, Schwartz S, Albertson DG, Pinkel D, Altshuler DM, Eichler EE. Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. American Journal of Human Genetics. 79: 275-90. PMID 16826518 DOI: 10.1086/505653  0.453
2006 Freeman JL, Perry GH, Feuk L, Redon R, McCarroll SA, Altshuler DM, Aburatani H, Jones KW, Tyler-Smith C, Hurles ME, Carter NP, Scherer SW, Lee C. Copy number variation: new insights in genome diversity. Genome Research. 16: 949-61. PMID 16809666 DOI: 10.1101/Gr.3677206  0.486
2006 Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J, Lupski JR, Nicholson C, Searle SM, Wilming L, Young SK, Abouelleil A, Allen NR, Bi W, Bloom T, Borowsky ML, ... ... McCarroll SA, et al. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature. 440: 1045-9. PMID 16625196 DOI: 10.1038/Nature04689  0.336
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  0.486
2005 McCarroll SA, Li H, Bargmann CI. Identification of transcriptional regulatory elements in chemosensory receptor genes by probabilistic segmentation. Current Biology : Cb. 15: 347-52. PMID 15723796 DOI: 10.1016/J.Cub.2005.02.023  0.326
2004 McCarroll SA, Murphy CT, Zou S, Pletcher SD, Chin CS, Jan YN, Kenyon C, Bargmann CI, Li H. Comparing genomic expression patterns across species identifies shared transcriptional profile in aging. Nature Genetics. 36: 197-204. PMID 14730301 DOI: 10.1038/Ng1291  0.334
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