Donald F. Conrad, Ph.D. - Publications

Affiliations: 
University of Chicago, Chicago, IL 

63 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 Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, ... ... Conrad D, et al. Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features. Hgg Advances. 100273. PMID 38297832 DOI: 10.1016/j.xhgg.2024.100273  0.351
2024 Freudiger A, Jovanovic VM, Huang Y, Snyder-Mackler N, Conrad DF, Miller B, Montague MJ, Westphal H, Stadler PF, Bley S, Horvath JE, Brent LJN, Platt ML, Ruiz-Lambides A, Tung J, et al. Taking identity-by-descent analysis into the wild: Estimating realized relatedness in free-ranging macaques. Biorxiv : the Preprint Server For Biology. PMID 38260273 DOI: 10.1101/2024.01.09.574911  0.363
2023 Khan MR, Akbari A, Nicholas TJ, Castillo-Madeen H, Ajmal M, Haq TU, Laan M, Quinlan AR, Ahuja JS, Shah AA, Conrad DF. Genome sequencing of Pakistani families with male infertility identifies deleterious genotypes in SPAG6, CCDC9, TKTL1, TUBA3C, and M1AP. Andrology. PMID 38073178 DOI: 10.1111/andr.13570  0.351
2023 Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, ... ... Conrad D, et al. Heterozygous loss-of-function variants are associated with variable and incompletely penetrant growth and developmental features. Medrxiv : the Preprint Server For Health Sciences. PMID 37808847 DOI: 10.1101/2023.09.27.23294269  0.341
2023 Ding X, Singh P, Schimenti K, Tran TN, Fragoza R, Hardy J, Orwig KE, Olszewska M, Kurpisz MK, Yatsenko AN, Conrad DF, Yu H, Schimenti JC. In vivo versus in silico assessment of potentially pathogenic missense variants in human reproductive genes. Proceedings of the National Academy of Sciences of the United States of America. 120: e2219925120. PMID 37459509 DOI: 10.1073/pnas.2219925120  0.341
2023 Qureshi S, Hardy JJ, Pombar C, Berman AJ, Malcher A, Gingrich T, Hvasta R, Kuong J, Munyoki S, Hwang K, Orwig KE, Ahmed J, Olszewska M, Kurpisz M, Conrad DF, et al. Genomic study of variants: prevalence and allelic heterogeneity in men with spermatogenic failure. Frontiers in Genetics. 14: 1134849. PMID 37234866 DOI: 10.3389/fgene.2023.1134849  0.402
2023 Dicke AK, Pilatz A, Wyrwoll MJ, Punab M, Ruckert C, Nagirnaja L, Aston KI, Conrad DF, Di Persio S, Neuhaus N, Fietz D, Laan M, Stallmeyer B, Tüttelmann F. DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia. Communications Biology. 6: 350. PMID 36997603 DOI: 10.1038/s42003-023-04714-4  0.312
2022 Nagirnaja L, Lopes AM, Charng WL, Miller B, Stakaitis R, Golubickaite I, Stendahl A, Luan T, Friedrich C, Mahyari E, Fadial E, Kasak L, Vigh-Conrad K, Oud MS, Xavier MJ, ... ... Conrad DF, et al. Diverse monogenic subforms of human spermatogenic failure. Nature Communications. 13: 7953. PMID 36572685 DOI: 10.1038/s41467-022-35661-z  0.327
2021 Hardy JJ, Wyrwoll MJ, Mcfadden W, Malcher A, Rotte N, Pollock NC, Munyoki S, Veroli MV, Houston BJ, Xavier MJ, Kasak L, Punab M, Laan M, Kliesch S, Schlegel P, ... ... Conrad DF, et al. Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure. Human Genetics. PMID 33963445 DOI: 10.1007/s00439-021-02287-y  0.358
2020 Laisk T, Soares ALG, Ferreira T, Painter JN, Censin JC, Laber S, Bacelis J, Chen CY, Lepamets M, Lin K, Liu S, Millwood IY, Ramu A, Southcombe J, Andersen MS, ... ... Conrad DF, et al. The genetic architecture of sporadic and multiple consecutive miscarriage. Nature Communications. 11: 5980. PMID 33239672 DOI: 10.1038/s41467-020-19742-5  0.338
2020 Salas-Huetos A, Tüttelmann F, Wyrwoll MJ, Kliesch S, Lopes AM, Conçalves J, Boyden SE, Wöste M, Hotaling JM, Nagirnaja L, Conrad DF, Carrell DT, Aston KI. Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia. Human Genetics. PMID 33211200 DOI: 10.1007/s00439-020-02236-1  0.327
2020 Bustamante-Marin XM, Horani A, Stoyanova M, Charng WL, Bottier M, Sears PR, Yin WN, Daniels LA, Bowen H, Conrad DF, Knowles MR, Ostrowski LE, Zariwala MA, Dutcher SK. Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia. Plos Genetics. 16: e1008691. PMID 32764743 DOI: 10.1371/Journal.Pgen.1008691  0.374
2020 Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, ... ... Conrad DF, et al. Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32741963 DOI: 10.1038/S41436-020-0907-1  0.348
2020 Wyrwoll MJ, Temel ŞG, Nagirnaja L, Oud MS, Lopes AM, van der Heijden GW, Heald JS, Rotte N, Wistuba J, Wöste M, Ledig S, Krenz H, Smits RM, Carvalho F, Gonçalves J, ... ... Conrad DF, et al. Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility. American Journal of Human Genetics. PMID 32673564 DOI: 10.1016/J.Ajhg.2020.06.010  0.36
2020 Houston BJ, Conrad DF, O'Bryan MK. A framework for high-resolution phenotyping of candidate male infertility mutants: from human to mouse. Human Genetics. PMID 32248361 DOI: 10.1007/S00439-020-02159-X  0.414
2019 Bustamante-Marin XM, Shapiro A, Sears PR, Charng WL, Conrad DF, Leigh MW, Knowles MR, Ostrowski LE, Zariwala MA. Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia. Journal of Human Genetics. PMID 31636325 DOI: 10.1038/S10038-019-0686-1  0.428
2019 Lee AS, Rusch J, Lima AC, Usmani A, Huang N, Lepamets M, Vigh-Conrad KA, Worthington RE, Mägi R, Wu X, Aston KI, Atkinson JP, Carrell DT, Hess RA, O'Bryan MK, ... Conrad DF, et al. Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility. Nature Communications. 10: 4626. PMID 31604923 DOI: 10.1038/S41467-019-12522-W  0.337
2019 Jung M, Wells D, Rusch J, Ahmad S, Marchini J, Myers SR, Conrad DF. Unified single-cell analysis of testis gene regulation and pathology in 5 mouse strains. Elife. 8. PMID 31237565 DOI: 10.7554/Elife.43966  0.392
2018 Kasak L, Punab M, Nagirnaja L, Grigorova M, Minajeva A, Lopes AM, Punab AM, Aston KI, Carvalho F, Laasik E, Smith LB, Conrad DF, Laan M. Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia. American Journal of Human Genetics. 103: 200-212. PMID 30075111 DOI: 10.1016/J.Ajhg.2018.07.005  0.423
2018 Nagirnaja L, Aston KI, Conrad DF. Genetic intersection of male infertility and cancer. Fertility and Sterility. 109: 20-26. PMID 29307395 DOI: 10.1016/J.Fertnstert.2017.10.028  0.347
2017 Nagirnaja L, Vigh-Conrad K, Conrad DF. How to Map the Genetic Basis for Conditions that are Comorbid with Male Infertility. Seminars in Reproductive Medicine. 35: 225-230. PMID 28658705 DOI: 10.1055/S-0037-1603567  0.4
2017 Chiang C, Scott AJ, Davis JR, Tsang EK, Li X, Kim Y, Hadzic T, Damani FN, Ganel L, Montgomery SB, Battle A, Conrad DF, Hall IM. The impact of structural variation on human gene expression. Nature Genetics. PMID 28369037 DOI: 10.1038/Ng.3834  0.485
2017 Wu SH, Schwartz RS, Winter DJ, Conrad DF, Cartwright RA. Estimating error models for whole genome sequencing using mixtures of Dirichlet-multinomial distributions. Bioinformatics (Oxford, England). PMID 28334373 DOI: 10.1093/Bioinformatics/Btx133  0.422
2016 Ho NR, Usmani AR, Yin Y, Ma L, Conrad DF. Multiplex shRNA Screening of Germ Cell Development by In Vivo Transfection of Mouse Testis. G3 (Bethesda, Md.). PMID 27856695 DOI: 10.1534/G3.116.036087  0.36
2016 Wilfert AB, Chao KR, Kaushal M, Jain S, Zöllner S, Adams DR, Conrad DF. Genome-wide significance testing of variation from single case exomes. Nature Genetics. PMID 27776118 DOI: 10.1038/Ng.3697  0.465
2016 Nagirnaja L, Noordam M, Conrad D. Mapping genetic heterogeneity of viable and non-viable sperm Fertility and Sterility. 106: e10. DOI: 10.1016/J.Fertnstert.2016.07.036  0.317
2015 Ho NR, Huang N, Conrad DF. Improved detection of disease-associated variation by sex-specific characterization and prediction of genes required for fertility. Andrology. PMID 26473511 DOI: 10.1111/Andr.12109  0.423
2015 Huang N, Wen Y, Guo X, Li Z, Dai J, Ni B, Yu J, Lin Y, Zhou W, Yao B, Jiang Y, Sha J, Conrad DF, Hu Z. A Screen for Genomic Disorders of Infertility Identifies MAST2 Duplications Associated with Non-Obstructive Azoospermia in Humans. Biology of Reproduction. PMID 26203179 DOI: 10.1095/Biolreprod.115.131185  0.492
2015 Ni B, Lin Y, Sun L, Zhu M, Li Z, Wang H, Yu J, Guo X, Zuo X, Dong J, Xia Y, Wen Y, Wu H, Li H, Zhu Y, ... ... Conrad DF, et al. Low-frequency germline variants across 6p22.2-6p21.33 are associated with non-obstructive azoospermia in Han Chinese men. Human Molecular Genetics. PMID 26199320 DOI: 10.1093/Hmg/Ddv257  0.371
2015 Lima AC, Carvalho F, Gonçalves J, Fernandes S, Marques PI, Sousa M, Barros A, Seixas S, Amorim A, Conrad DF, Lopes AM. Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure. Andrology. PMID 26139570 DOI: 10.1111/Andr.12063  0.443
2015 Nikolskiy I, Conrad DF, Chun S, Fay JC, Cheverud JM, Lawson HA. Using whole-genome sequences of the LG/J and SM/J inbred mouse strains to prioritize quantitative trait genes and nucleotides. Bmc Genomics. 16: 415. PMID 26016481 DOI: 10.1186/S12864-015-1592-3  0.466
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, 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  0.453
2014 Hughes AE, Magrini V, Demeter R, Miller CA, Fulton R, Fulton LL, Eades WC, Elliott K, Heath S, Westervelt P, Ding L, Conrad DF, White BS, Shao J, Link DC, et al. Clonal architecture of secondary acute myeloid leukemia defined by single-cell sequencing. Plos Genetics. 10: e1004462. PMID 25010716 DOI: 10.1371/Journal.Pgen.1004462  0.414
2014 Bryois J, Buil A, Evans DM, Kemp JP, Montgomery SB, Conrad DF, Ho KM, Ring S, Hurles M, Deloukas P, Davey Smith G, Dermitzakis ET. Cis and trans effects of human genomic variants on gene expression. Plos Genetics. 10: e1004461. PMID 25010687 DOI: 10.1371/Journal.Pgen.1004461  0.355
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, et al. Guidelines for investigating causality of sequence variants in human disease. Nature. 508: 469-76. PMID 24759409 DOI: 10.1038/Nature13127  0.621
2014 Jain S, Noordam MJ, Hoshi M, Vallania FL, Conrad DF. Validating single-cell genomics for the study of renal development. Kidney International. 86: 1049-55. PMID 24759149 DOI: 10.1038/Ki.2014.104  0.365
2014 Mulle JG, Pulver AE, McGrath JA, Wolyniec PS, Dodd AF, Cutler DJ, Sebat J, Malhotra D, Nestadt G, Conrad DF, Hurles M, Barnes CP, Ikeda M, Iwata N, Levinson DF, et al. Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia. Biological Psychiatry. 75: 371-7. PMID 23871472 DOI: 10.1016/J.Biopsych.2013.05.040  0.349
2013 Grozeva D, Kirov G, Conrad DF, Barnes CP, Hurles M, Owen MJ, O'Donovan MC, Craddock N. Reduced burden of very large and rare CNVs in bipolar affective disorder. Bipolar Disorders. 15: 893-8. PMID 24127788 DOI: 10.1111/Bdi.12125  0.311
2013 Ramu A, Noordam MJ, Schwartz RS, Wuster A, Hurles ME, Cartwright RA, Conrad DF. DeNovoGear: de novo indel and point mutation discovery and phasing. Nature Methods. 10: 985-7. PMID 23975140 DOI: 10.1038/Nmeth.2611  0.33
2013 Lopes AM, Aston KI, Thompson E, Carvalho F, Gonçalves J, Huang N, Matthiesen R, Noordam MJ, Quintela I, Ramu A, Seabra C, Wilfert AB, Dai J, Downie JM, Fernandes S, ... ... Conrad DF, et al. Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1. Plos Genetics. 9: e1003349. PMID 23555275 DOI: 10.1371/Journal.Pgen.1003349  0.413
2013 Aston KI, Conrad DF. A review of genome-wide approaches to study the genetic basis for spermatogenic defects. Methods in Molecular Biology (Clifton, N.J.). 927: 397-410. PMID 22992931 DOI: 10.1007/978-1-62703-038-0_34  0.452
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, 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  0.638
2012 Grozeva D, Conrad DF, Barnes CP, Hurles M, Owen MJ, O'Donovan MC, Craddock N, Kirov G. Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia. Schizophrenia Research. 135: 1-7. PMID 22130109 DOI: 10.1016/J.Schres.2011.11.004  0.306
2012 Hu M, Ayub Q, Guerra-Assunção JA, Long Q, Ning Z, Huang N, Romero IG, Mamanova L, Akan P, Liu X, Coffey AJ, Turner DJ, Swerdlow H, Burton J, Quail MA, ... Conrad DF, et al. Exploration of signals of positive selection derived from genotype-based human genome scans using re-sequencing data. Human Genetics. 131: 665-74. PMID 22057783 DOI: 10.1007/S00439-011-1111-9  0.389
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  0.337
2011 Conrad DF. Meeting on big mutations addresses big questions in human genetics. Genome Medicine. 3: 12. PMID 21345244 DOI: 10.1186/Gm226  0.436
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, et al. Mapping copy number variation by population-scale genome sequencing. Nature. 470: 59-65. PMID 21293372 DOI: 10.1038/Nature09708  0.464
2010 Pang AW, MacDonald JR, Pinto D, Wei J, Rafiq MA, Conrad DF, Park H, Hurles ME, Lee C, Venter JC, Kirkness EF, Levy S, Feuk L, Scherer SW. Towards a comprehensive structural variation map of an individual human genome. Genome Biology. 11: R52. PMID 20482838 DOI: 10.1186/Gb-2010-11-5-R52  0.48
2010 Conrad DF, Bird C, Blackburne B, Lindsay S, Mamanova L, Lee C, Turner DJ, Hurles ME. Mutation spectrum revealed by breakpoint sequencing of human germline CNVs. Nature Genetics. 42: 385-91. PMID 20364136 DOI: 10.1038/Ng.564  0.387
2010 Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, Robson S, Vukcevic D, Barnes C, Conrad DF, Giannoulatou E, Holmes C, Marchini JL, Stirrups K, Tobin MD, et al. Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature. 464: 713-20. PMID 20360734 DOI: 10.1038/Nature08979  0.47
2010 Schuster-Böckler B, Conrad D, Bateman A. Dosage sensitivity shapes the evolution of copy-number varied regions. Plos One. 5: e9474. PMID 20224824 DOI: 10.1371/Journal.Pone.0009474  0.385
2010 Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, Macarthur DG, et al. Origins and functional impact of copy number variation in the human genome. Nature. 464: 704-12. PMID 19812545 DOI: 10.1038/Nature08516  0.497
2009 Xue Y, Zhang X, Huang N, Daly A, Gillson CJ, Macarthur DG, Yngvadottir B, Nica AC, Woodwark C, Chen Y, Conrad DF, Ayub Q, Mehdi SQ, Li P, Tyler-Smith C. Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation. Genetics. 183: 1065-77. PMID 19737746 DOI: 10.1534/Genetics.109.107722  0.451
2009 Murmann AE, Conrad DF, Mashek H, Curtis CA, Nicolae RI, Ober C, Schwartz S. Inverted duplications on acentric markers: mechanism of formation. Human Molecular Genetics. 18: 2241-56. PMID 19336476 DOI: 10.1093/Hmg/Ddp160  0.332
2009 Schroeder KB, Jakobsson M, Crawford MH, Schurr TG, Boca SM, Conrad DF, Tito RY, Osipova LP, Tarskaia LA, Zhadanov SI, Wall JD, Pritchard JK, Malhi RS, Smith DG, Rosenberg NA. Haplotypic background of a private allele at high frequency in the Americas. Molecular Biology and Evolution. 26: 995-1016. PMID 19221006 DOI: 10.1093/Molbev/Msp024  0.592
2008 Pemberton TJ, Jakobsson M, Conrad DF, Coop G, Wall JD, Pritchard JK, Patel PI, Rosenberg NA. Using population mixtures to optimize the utility of genomic databases: linkage disequilibrium and association study design in India. Annals of Human Genetics. 72: 535-46. PMID 18513279 DOI: 10.1111/J.1469-1809.2008.00457.X  0.708
2008 Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA, Gilliam TC, Nowak NJ, Cook EH, Dobyns WB, Christian SL. Recurrent 16p11.2 microdeletions in autism. Human Molecular Genetics. 17: 628-38. PMID 18156158 DOI: 10.1093/Hmg/Ddm376  0.398
2007 Conrad DF, Hurles ME. The population genetics of structural variation. Nature Genetics. 39: S30-6. PMID 17597779 DOI: 10.1038/Ng2042  0.487
2007 Conrad DF, Pritchard JK. Population genetics and disease Genes and Common Diseases. 44-58. DOI: 10.1017/CBO9780511543555.004  0.538
2006 Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, González JR, Gratacòs M, ... ... Conrad DF, et al. Global variation in copy number in the human genome. Nature. 444: 444-54. PMID 17122850 DOI: 10.1038/Nature05329  0.549
2006 Falush D, Torpdahl M, Didelot X, Conrad DF, Wilson DJ, Achtman M. Mismatch induced speciation in Salmonella: model and data. Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences. 361: 2045-53. PMID 17062419 DOI: 10.1098/Rstb.2006.1925  0.364
2006 Conrad DF, Jakobsson M, Coop G, Wen X, Wall JD, Rosenberg NA, Pritchard JK. A worldwide survey of haplotype variation and linkage disequilibrium in the human genome. Nature Genetics. 38: 1251-60. PMID 17057719 DOI: 10.1038/Ng1911  0.71
2006 Conrad DF, Andrews TD, Carter NP, Hurles ME, Pritchard JK. A high-resolution survey of deletion polymorphism in the human genome. Nature Genetics. 38: 75-81. PMID 16327808 DOI: 10.1038/Ng1697  0.655
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