Calculated based on number of publications stored in Pure and citations from Scopus
20022024

Research activity per year

Search results

  • Article

    Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management

    Kasak, L., Lillepea, K., Nagirnaja, L., Aston, K. I., Schlegel, P. N., Gonçalves, J., Carvalho, F., Moreno-Mendoza, D., Almstrup, K., Eisenberg, M. L., Jarvi, K. A., O'Bryan, M. K., Lopes, A. M., Conrad, D. F., Punab, M. & Laan, M., Jul 1 2022, In: Human Reproduction. 37, 7, p. 1652-1663 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    4 Scopus citations
  • A de novo paradigm for male infertility

    Genetics of Male Infertility Initiative (GEMINI) consortium, Dec 1 2022, In: Nature communications. 13, 1, 154.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    28 Scopus citations
  • A framework for high-resolution phenotyping of candidate male infertility mutants: from human to mouse

    Houston, B. J., Conrad, D. F. & O’Bryan, M. K., Jan 2021, In: Human genetics. 140, 1, p. 155-182 28 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    22 Scopus citations
  • A high-resolution survey of deletion polymorphism in the human genome

    Conrad, D. F., Andrews, T. D., Carter, N. P., Hurles, M. E. & Pritchard, J. K., Jan 2006, In: Nature genetics. 38, 1, p. 75-81 7 p.

    Research output: Contribution to journalArticlepeer-review

    539 Scopus citations
  • A map of human genome variation from population-scale sequencing

    Altshuler, D. L., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., Clark, A. G., Collins, F. S., De La Vega, F. M., Donnelly, P., Egholm, M., Flicek, P., Gabriel, S. B., Gibbs, R. A., Knoppers, B. M., Lander, E. S., Lehrach, H., Mardis, E. R., McVean, G. A., Nickerson, D. A., Peltonen, L., & 348 othersSchafer, A. J., Sherry, S. T., Wang, J., Wilson, R. K., Deiros, D., Metzker, M., Muzny, D., Reid, J., Wheeler, D., Wang, S. J., Li, J., Jian, M., Li, G., Li, R., Liang, H., Tian, G., Wang, B., Wang, J., Wang, W., Yang, H., Zhang, X., Zheng, H., Ambrogio, L., Bloom, T., Cibulskis, K., Fennell, T. J., Jaffe, D. B., Shefler, E., Sougnez, C. L., Bentley, I. D. R., Gormley, N., Humphray, S., Kingsbury, Z., Koko-Gonzales, P., Stone, J., Mc Kernan, K. J., Costa, G. L., Ichikawa, J. K., Lee, C. C., Sudbrak, R., Borodina, T. A., Dahl, A., Davydov, A. N., Marquardt, P., Mertes, F., Nietfeld, W., Rosenstiel, P., Schreiber, S., Soldatov, A. V., Timmermann, B., Tolzmann, M., Affourtit, J., Ashworth, D., Attiya, S., Bachorski, M., Buglione, E., Burke, A., Caprio, A., Celone, C., Clark, S., Conners, D., Desany, B., Gu, L., Guccione, L., Kao, K., Kebbel, A., Knowlton, J., Labrecque, M., McDade, L., Mealmaker, C., Minderman, M., Nawrocki, A., Niazi, F., Pareja, K., Ramenani, R., Riches, D., Song, W., Turcotte, C., Wang, S., Dooling, D., Fulton, L., Fulton, R., Weinstock, G., Burton, J., Carter, D. M., Churcher, C., Coffey, A., Cox, A., Palotie, A., Quail, M., Skelly, T., Stalker, J., Swerdlow, H. P., Turner, D., De Witte, A., Giles, S., Bainbridge, M., Challis, D., Sabo, A., Yu, F., Yu, J., Fang, X., Guo, X., Li, Y., Luo, R., Tai, S., Wu, H., Zheng, H., Zheng, X., Zhou, Y., Marth, G. T., Garrison, E. P., Huang, W., Indap, A., Kural, D., Lee, W. P., Leong, W. F., Quinlan, A. R., Stewart, C., Stromberg, M. P., Ward, A. N., Wu, J., Lee, C., Mills, R. E., Shi, X., Daly, M. J., DePristo, M. A., Ball, A. D., Banks, E., Browning, B. L., Garimella, K. V., Grossman, S. R., Handsaker, R. E., Hanna, M., Hartl, C., Kernytsky, A. M., Korn, J. M., Li, H., Maguire, J. R., McKenna, A., Nemesh, J. C., Philippakis, A. A., Poplin, R. E., Price, A., Rivas, M. A., Sabeti, P. C., Schaffner, S. F., Shlyakhter, I. A., Cooper, D. N., Ball, E. V., Mort, M., Phillips, A. D., Stenson, P. D., Sebat, J., Makarov, V., Ye, K., Yoon, S. C., Bustamante, C. D., Boyko, A., Degenhardt, J., Gravel, S., Gutenkunst, R. N., Kaganovich, M., Keinan, A., Lacroute, P., Ma, X., Reynolds, A., Clarke, L., Cunningham, F., Herrero, J., Keenen, S., Kulesha, E., Leinonen, R., McLaren, W. M., Radhakrishnan, R., Smith, R. E., Zalunin, V., Korbel, J. O., Stütz, A. M., Humphray, I. S., Bauer, M., Cheetham, R. K., Cox, T., Eberle, M., James, T., Kahn, S., Murray, L., Ye, K., Fu, Y., Hyland, F. C. L., Manning, J. M., Stephen, F. M., Peckham, H. E., Sakarya, O., Sun, Y. A., Tsung, E. F., Mark, A. B., Konkel, M. K., Walker, J. A., Albrecht, M. W., Amstislavskiy, V. S., Herwig, R., Parkhomchuk, D. V., Agarwala, R., Khouri, H. M., Morgulis, A. O., Paschall, J. E., Phan, L. D., Rotmistrovsky, K. E., Sanders, R. D., Shumway, M. F., Xiao, C., Gil, A. M., Auton, A., Iqbal, Z., Lunter, G., Marchini, J. L., Moutsianas, L., Myers, S., Tumian, A., Knight, J., Winer, R., Craig, D. W., Beckstrom-Sternberg, S. M., Christoforides, A., Kurdoglu, A. A., Pearson, J. V., Sinari, S. A., Tembe, W. D., Haussler, D., Hinrichs, A. S., Katzman, S. J., Kern, A., Kuhn, R. M., Przeworski, M., Hernandez, R. D., Howie, B., Kelley, J. L., Melton, S. C., Li, Y., Anderson, P., Blackwell, T., Chen, W., Cookson, W. O., Ding, J., Kang, H. M., Lathrop, M., Liang, L., Moffatt, M. F., Scheet, P., Sidore, C., Snyder, M., Zhan, X., Zöllner, S., Awadalla, P., Casals, F., Idaghdour, Y., Keebler, J., Stone, E. A., Zilversmit, M., Jorde, L., Xing, J., Eichler, E. E., Aksay, G., Alkan, C., Hajirasouliha, I., Hormozdiari, F., Kidd, J. M., CenkSahinalp, S., Sudmant, P. H., Chen, K., Chinwalla, A., Ding, L., Koboldt, D. C., McLellan, M. D., Wallis, J. W., Wendl, M. C., Zhang, Q., Albers, C. A., Ayub, Q., Balasubramaniam, S., Barrett, J. C., Chen, Y., Conrad, D. F., Danecek, P., Dermitzakis, E. T., Hu, M., Huang, N., Matt, E. H., Jin, H., Jostins, L., Keane, T. M., Quang Le, S., Lindsay, S., Long, Q., MacArthur, D. G., Montgomery, S. B., Parts, L., Chris Tyler-Smith, T-S., Walter, K., Zhang, Y., Gerstein, M. B., Snyder, M., Abyzov, A., Balasubramanian, S., Bjornson, R., Grubert, F., Habegger, L., Haraksingh, R., Khurana, E., Lam, H. Y. K., Leng, J., Mu, X. J., Urban, A. E., Zhang, Z., McCarroll, S. A., Zheng-Bradley, X., Batzer, M. A., Hurles, M. E., Du, J., Jee, J., Coafra, C., Dinh, H., Kovar, C., Lee, S., Nazareth, L., Wilkinson, J., Coffey, A., Scott, C., Tyler-Smith, C., Gharani, N., Kaye, J. S., Kent, A., Li, T., McGuire, A. L., Ossorio, P. N., Rotimi, C. N., Su, Y., Toji, L. H., Felsenfeld, A. L., McEwen, J. E., Abdallah, A., Juenger, C. R., Clemm, N. C., Duncanson, A., Green, E. D., Guyer, M. S. & Peterson, J. L., Oct 28 2010, In: Nature. 467, 7319, p. 1061-1073 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    6193 Scopus citations
  • A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies

    The International IBD Genetics Consortium, May 5 2016, In: American Journal of Human Genetics. 98, 5, p. 857-868 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    12 Scopus citations
  • A naturally occurring variant of MBD4 causes maternal germline hypermutation in primates

    Stendahl, A. M., Sanghvi, R., Peterson, S., Ray, K., Lima, A. C., Rahbari, R. & Conrad, D. F., 2023, In: Genome Research. 33, 12, p. 2053-2059 7 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1 Scopus citations
  • A protein allergen microarray detects specific IgE to pollen surface, cytoplasmic, and commercial allergen extracts

    Vigh-Conrad, K. A., Conrad, D. F. & Preuss, D., 2010, In: PloS one. 5, 4, e10174.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    22 Scopus citations
  • A Quantitative Proteome Map of the Human Body

    GTEx Consortium, Oct 1 2020, In: Cell. 183, 1, p. 269-283.e19

    Research output: Contribution to journalArticlepeer-review

    Open Access
    194 Scopus citations
  • A screen for genomic disorders of infertility identifies MAST2 duplications associated with nonobstructive azoospermia in humans

    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, D. F. & Hu, Z., Sep 1 2015, In: Biology of reproduction. 93, 3, 61.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    29 Scopus citations
  • A standardized approach for multispecies purification of mammalian male germ cells by mechanical tissue dissociation and flow cytometry

    Lima, A. C., Jung, M., Rusch, J., Usmani, A., Lopes, A. M. & Conrad, D. F., Jul 12 2017, In: Journal of Visualized Experiments. 2017, 125, e55913.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    6 Scopus citations
  • A systematic survey of loss-of-function variants in human protein-coding genes

    MacArthur, D. G., Balasubramanian, S., Frankish, A., Huang, N., Morris, J., Walter, K., Jostins, L., Habegger, L., Pickrell, J. K., Montgomery, S. B., Albers, C. A., Zhang, Z. D., Conrad, D. F., Lunter, G., Zheng, H., Ayub, Q., DePristo, M. A., Banks, E., Hu, M., Handsaker, R. E., & 31 othersRosenfeld, J. A., Fromer, M., Jin, M., Mu, X. J., Khurana, E., Ye, K., Kay, M., Saunders, G. I., Suner, M. M., Hunt, T., Barnes, I. H. A., Amid, C., Carvalho-Silva, D. R., Bignell, A. H., Snow, C., Yngvadottir, B., Bumpstead, S., Cooper, D. N., Xue, Y., Romero, I. G., Wang, J., Li, Y., Gibbs, R. A., McCarroll, S. A., Dermitzakis, E. T., Pritchard, J. K., Barrett, J. C., Harrow, J., Hurles, M. E., Gerstein, M. B. & Tyler-Smith, C., Feb 17 2012, In: Science. 335, 6070, p. 823-828 6 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    915 Scopus citations
  • A vast resource of allelic expression data spanning human tissues

    Castel, S. E., Aguet, F., Mohammadi, P., Aguet, F., Anand, S., Ardlie, K. G., Gabriel, S., Getz, G. A., Graubert, A., Hadley, K., Handsaker, R. E., Huang, K. H., Kashin, S., Li, X., MacArthur, D. G., Meier, S. R., Nedzel, J. L., Nguyen, D. T., Segrè, A. V., Todres, E., & 180 othersAguet, F., Anand, S., Ardlie, K. G., Balliu, B., Barbeira, A. N., Battle, A., Bonazzola, R., Brown, A., Brown, C. D., Castel, S. E., Conrad, D. F., Cotter, D. J., Cox, N., Das, S., De Goede, O. M., Dermitzakis, E. T., Einson, J., Engelhardt, B. E., Eskin, E., Eulalio, T. Y., Ferraro, N. M., Flynn, E. D., Fresard, L., Gamazon, E. R., Garrido-Martín, D., Gay, N. R., Gloudemans, M. J., Graubert, A., Guigó, R., Hadley, K., Hame, A. R., Handsaker, R. E., He, Y., Hoffman, P. J., Hormozdiari, F., Hou, L., Huang, K. H., Im, H. K., Jo, B., Kasela, S., Kashin, S., Kellis, M., Kim-Hellmuth, S., Kwong, A., Lappalainen, T., Li, X., Li, X., Liang, Y., Mangul, S., Meier, S. R., Mohammadi, P., Montgomery, S. B., Muñoz-Aguirre, M., Nachun, D. C., Nedzel, J. L., Nguyen, D. T., Nobel, A. B., Oliva, M., Park, Y. S., Park, Y., Parsana, P., Rao, A. S., Reverter, F., Rouhana, J. M., Sabatti, C., Saha, A., Segrè, A. V., Skol, A. D., Stephens, M., Stranger, B. E., Strober, B. J., Teran, N. A., Todres, E., Viñuela, A., Wang, G., Wen, X., Wright, F., Wucher, V., Zou, Y., Ferreira, P. G., Li, G., Melé, M., Yeger-Lotem, E., Barcus, M. E., Bradbury, D., Krubit, T., McLean, J. A., Qi, L., Robinson, K., Roche, N. V., Smith, A. M., Sobin, L., Tabor, D. E., Undale, A., Bridge, J., Brigham, L. E., Foster, B. A., Gillard, B. M., Hasz, R., Hunter, M., Johns, C., Johnson, M., Karasik, E., Kopen, G., Leinweber, W. F., McDonald, A., Moser, M. T., Myer, K., Ramsey, K. D., Roe, B., Shad, S., Thomas, J. A., Walters, G., Washington, M., Wheeler, J., Jewell, S. D., Rohrer, D. C., Valley, D. R., Davis, D. A., Mash, D. C., Barcus, M. E., Branton, P. A., Sobin, L., Barker, L. K., Gardiner, H. M., Mosavel, M., Siminoff, L. A., Flicek, P., Haeussler, M., Juettemann, T., Kent, W. J., Lee, C. M., Powell, C. C., Rosenbloom, K. R., Ruffier, M., Sheppard, D., Taylor, K., Trevanion, S. J., Zerbino, D. R., Abell, N. S., Akey, J., Chen, L., Demanelis, K., Doherty, J. A., Feinberg, A. P., Hansen, K. D., Hickey, P. F., Hou, L., Jasmine, F., Jiang, L., Kaul, R., Kibriya, M. G., Li, J. B., Li, Q., Lin, S., Linder, S. E., Montgomery, S. B., Oliva, M., Park, Y., Pierce, B. L., Rizzardi, L. F., Skol, A. D., Smith, K. S., Snyder, M., Stamatoyannopoulos, J., Stranger, B. E., Tang, H., Wang, M., Branton, P. A., Carithers, L. J., Guan, P., Koester, S. E., Little, A. R., Moore, H. M., Nierras, C. R., Rao, A. K., Vaught, J. B., Volpi, S., Ardlie, K. G. & Lappalainen, T., Sep 11 2020, In: Genome biology. 21, 1, 234.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    44 Scopus citations
  • A worldwide survey of haplotype variation and linkage disequilibrium in the human genome

    Conrad, D. F., Jakobsson, M., Coop, G., Wen, X., Wall, J. D., Rosenberg, N. A. & Pritchard, J. K., Nov 23 2006, In: Nature genetics. 38, 11, p. 1251-1260 10 p.

    Research output: Contribution to journalArticlepeer-review

    387 Scopus citations
  • Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility

    GEMINI Consortium, Aug 6 2020, In: American Journal of Human Genetics. 107, 2, p. 342-351 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    52 Scopus citations
  • Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia

    GEMINI Consortium, Aug 2 2018, In: American Journal of Human Genetics. 103, 2, p. 200-212 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    87 Scopus citations
  • C19ORF84 connects piRNA and DNA methylation machineries to defend the mammalian germ line

    Zoch, A., Konieczny, G., Auchynnikava, T., Stallmeyer, B., Rotte, N., Heep, M., Berrens, R. V., Schito, M., Kabayama, Y., Schöpp, T., Kliesch, S., Houston, B., Nagirnaja, L., O'Bryan, M. K., Aston, K. I., Conrad, D. F., Rappsilber, J., Allshire, R. C., Cook, A. G., Tüttelmann, F., & 1 othersO'Carroll, D., Mar 21 2024, In: Molecular Cell. 84, 6, p. 1021-1035.e11

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Cell type–specific genetic regulation of gene expression across human tissues

    GTEx Consortium, Sep 2020, In: Science. 369, 6509, eaaz8528.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    153 Scopus citations
  • Cis and Trans Effects of Human Genomic Variants on Gene Expression

    Bryois, J., Buil, A., Evans, D. M., Kemp, J. P., Montgomery, S. B., Conrad, D. F., Ho, K. M., Ring, S., Hurles, M., Deloukas, P., Davey Smith, G. & Dermitzakis, E. T., Jul 2014, In: PLoS genetics. 10, 7, e1004461.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    92 Scopus citations
  • Clonal Architecture of Secondary Acute Myeloid Leukemia Defined by Single-Cell Sequencing

    Hughes, A. E. O., Magrini, V., Demeter, R., Miller, C. A., Fulton, R., Fulton, L. L., Eades, W. C., Elliott, K., Heath, S., Westervelt, P., Ding, L., Conrad, D. F., White, B. S., Shao, J., Link, D. C., DiPersio, J. F., Mardis, E. R., Wilson, R. K., Ley, T. J., Walter, M. J., & 1 othersGraubert, T. A., Jul 2014, In: PLoS genetics. 10, 7, e1004462.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    101 Scopus citations
  • Co-expression networks reveal the tissue-specific regulation of transcription and splicing

    The GTEx Consortium, Jan 1 2017, In: Genome Research. 27, 11, p. 1843-1858 16 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    104 Scopus citations
  • Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data

    International Inflammatory Bowel Disease Genetics Consortium (IIBDGC), Dec 1 2019, In: Scientific Reports. 9, 1, 10351.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    73 Scopus citations
  • Comparative single-cell analysis of biopsies clarifies pathogenic mechanisms in Klinefelter syndrome

    Mahyari, E., Guo, J., Lima, A. C., Lewinsohn, D. P., Stendahl, A. M., Vigh-Conrad, K. A., Nie, X., Nagirnaja, L., Rockweiler, N. B., Carrell, D. T., Hotaling, J. M., Aston, K. I. & Conrad, D. F., Oct 7 2021, In: American Journal of Human Genetics. 108, 10, p. 1924-1945 22 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    26 Scopus citations
  • Consensus label propagation with graph convolutional networks for single-cell RNA sequencing cell type annotation

    Lewinsohn, D. P., Vigh-Conrad, K. A., Conrad, D. F. & Scott, C. B., Jun 1 2023, In: Bioinformatics. 39, 6, btad360.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1 Scopus citations
  • DDB1- and CUL4-associated factor 12-like protein 1 (Dcaf12l1) is not essential for male fertility in mice

    Houston, B. J., Lopes, A. M., Laan, M., Nagirnaja, L., O'Connor, A. E., Merriner, D. J., Nguyen, J., Punab, M., Riera-Escamilla, A., Krausz, C., Aston, K. I., Conrad, D. F. & O'Bryan, M. K., Oct 2022, In: Developmental Biology. 490, p. 66-72 7 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia

    Dicke, A. K., Pilatz, A., Wyrwoll, M. J., Punab, M., Ruckert, C., Nagirnaja, L., Aston, K. I., Conrad, D. F., Di Persio, S., Neuhaus, N., Fietz, D., Laan, M., Stallmeyer, B. & Tüttelmann, F., Dec 2023, In: Communications Biology. 6, 1, 350.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    3 Scopus citations
  • Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency

    Wong, S. Y. W., Gadomski, T., Kozicz, T., Morava, E., Beamer, L. J., Honzik, T., Mohamed, M., Morava, E., Wortmann, S. B., Brocke Holmefjord, K. S., Mork, M., Bowling, F., Sykut-Cegielska, J., Koch, D., Ackermann, A., Stanley, C. A., Rymen, D., Zeharia, A., Al-Sayed, M., Marquardt, T., & 3 othersJaeken, J., Lefeber, D. & Conrad, D. F., Aug 1 2016, In: Journal of Pediatrics. 175, p. 130-136.e8

    Research output: Contribution to journalArticlepeer-review

    Open Access
    42 Scopus citations
  • Deleterious genetic changes in AGTPBP1 result in teratozoospermia with sperm head and flagella defects

    Lin, Y. H., Wang, Y. Y., Lai, T. H., Teng, J. L., Lin, C. W., Ke, C. C., Yu, I. S., Lee, H. L., Chan, C. C., Tung, C. H., Conrad, D. F., O'Bryan, M. K. & Lin, Y. H., Jan 2024, In: Journal of cellular and molecular medicine. 28, 2, e18031.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • DeNovoGear: De novo indel and point mutation discovery and phasing

    Ramu, A., Noordam, M. J., Schwartz, R. S., Wuster, A., Hurles, M. E., Cartwright, R. A. & Conrad, D. F., Oct 2013, In: Nature Methods. 10, 10, p. 985-987 3 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    126 Scopus citations
  • Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia

    GEMINI Consortium, Jan 2021, In: Human genetics. 140, 1, p. 217-227 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    29 Scopus citations
  • Diverse monogenic subforms of human spermatogenic failure

    Nagirnaja, L., Lopes, A. M., Charng, W. L., Miller, B., Stakaitis, R., Golubickaite, I., Stendahl, A., Luan, T., Friedrich, C., Mahyari, E., Fadial, E., Kasak, L., Vigh-Conrad, K., Oud, M. S., Xavier, M. J., Cheers, S. R., James, E. R., Guo, J., Jenkins, T. G., Riera-Escamilla, A., & 29 othersBarros, A., Carvalho, F., Fernandes, S., Gonçalves, J., Gurnett, C. A., Jørgensen, N., Jezek, D., Jungheim, E. S., Kliesch, S., McLachlan, R. I., Omurtag, K. R., Pilatz, A., Sandlow, J. I., Smith, J., Eisenberg, M. L., Hotaling, J. M., Jarvi, K. A., Punab, M., Rajpert-De Meyts, E., Carrell, D. T., Krausz, C., Laan, M., O’Bryan, M. K., Schlegel, P. N., Tüttelmann, F., Veltman, J. A., Almstrup, K., Aston, K. I. & Conrad, D. F., Dec 2022, In: Nature communications. 13, 1, 7953.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    16 Scopus citations
  • Diversity of human copy number variation and multicopy genes

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    525 Scopus citations
  • Dosage sensitivity shapes the evolution of copy-number varied regions

    Schuster-Böckler, B., Conrad, D. & Bateman, A., Mar 10 2010, In: PloS one. 5, 3, e9474.

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    Open Access
    76 Scopus citations
  • Dynamic landscape and regulation of RNA editing in mammals

    GTEx Consortium, Oct 11 2017, In: Nature. 550, 7675, p. 249-254 6 p.

    Research output: Contribution to journalArticlepeer-review

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    388 Scopus citations
  • Effect of chronic ethanol consumption in rhesus macaques on the nucleus accumbens core transcriptome

    Walter, N., Cervera-Juanes, R., Zheng, C., Darakjian, P., Lockwood, D., Cuzon-Carlson, V., Ray, K., Fei, S., Conrad, D., Searles, R., Grant, K. & Hitzemann, R., Sep 2021, In: Addiction Biology. 26, 5, e13021.

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    3 Scopus citations
  • Effect of predicted protein-truncating genetic variants on the human transcriptome

    GTEx Consortium & Geuvadis Consortium, May 8 2015, In: Science. 348, 6235, p. 666-669 4 p.

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    Open Access
    183 Scopus citations
  • Estimating error models for whole genome sequencing using mixtures of Dirichlet-multinomial distributions

    Wu, S. H., Schwartz, R. S., Winter, D. J., Conrad, D. F. & Cartwright, R. A., Aug 1 2017, In: Bioinformatics. 33, 15, p. 2322-2329 8 p.

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    10 Scopus citations
  • Exploration of signals of positive selection derived from genotype-based human genome scans using re-sequencing data

    Hu, M., Ayub, Q., Guerra-Assunção, J. A., Long, Q., Ning, Z., Huang, N., Romero, I. G., Mamanova, L., Akan, P., Liu, X., Coffey, A. J., Turner, D. J., Swerdlow, H., Burton, J., Quail, M. A., Conrad, D. F., Enright, A. J., Tyler-Smith, C. & Xue, Y., May 2012, In: Human genetics. 131, 5, p. 665-674 10 p.

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    8 Scopus citations
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    Barbeira, A. N., Dickinson, S. P., Bonazzola, R., Zheng, J., Wheeler, H. E., Torres, J. M., Torstenson, E. S., Shah, K. P., Garcia, T., Edwards, T. L., Stahl, E. A., Huckins, L. M., Aguet, F., Ardlie, K. G., Cummings, B. B., Gelfand, E. T., Getz, G., Hadley, K., Handsaker, R. E., Huang, K. H., & 225 othersKashin, S., Karczewski, K. J., Lek, M., Li, X., MacArthur, D. G., Nedzel, J. L., Nguyen, D. T., Noble, M. S., Segrè, A. V., Trowbridge, C. A., Tukiainen, T., Abell, N. S., Balliu, B., Barshir, R., Basha, O., Battle, A., Bogu, G. K., Brown, A., Brown, C. D., Castel, S. E., Chen, L. S., Chiang, C., Conrad, D. F., Damani, F. N., Davis, J. R., Delaneau, O., Dermitzakis, E. T., Engelhardt, B. E., Eskin, E., Ferreira, P. G., Frésard, L., Gamazon, E. R., Garrido-Martín, D., Gewirtz, A. D. H., Gliner, G., Gloudemans, M. J., Guigo, R., Hall, I. M., Han, B., He, Y., Hormozdiari, F., Howald, C., Jo, B., Kang, E. Y., Kim, Y., Kim-Hellmuth, S., Lappalainen, T., Li, G., Li, X., Liu, B., Mangul, S., McCarthy, M. I., McDowell, I. C., Mohammadi, P., Monlong, J., Montgomery, S. B., Muñoz-Aguirre, M., Ndungu, A. W., Nobel, A. B., Oliva, M., Ongen, H., Palowitch, J. J., Panousis, N., Papasaikas, P., Park, Y. S., Parsana, P., Payne, A. J., Peterson, C. B., Quan, J., Reverter, F., Sabatti, C., Saha, A., Sammeth, M., Scott, A. J., Shabalin, A. A., Sodaei, R., Stephens, M., Stranger, B. E., Strober, B. J., Sul, J. H., Tsang, E. K., Urbut, S., Van De Bunt, M., Wang, G., Wen, X., Wright, F. A., Xi, H. S., Yeger-Lotem, E., Zappala, Z., Zaugg, J. B., Zhou, Y. H., Akey, J. M., Bates, D., Chan, J., Claussnitzer, M., Demanelis, K., Diegel, M., Doherty, J. A., Feinberg, A. P., Fernando, M. S., Halow, J., Hansen, K. D., Haugen, E., Hickey, P. F., Hou, L., Jasmine, F., Jian, R., Jiang, L., Johnson, A., Kaul, R., Kellis, M., Kibriya, M. G., Lee, K., Li, J. B., Li, Q., Lin, J., Lin, S., Linder, S., Linke, C., Liu, Y., Maurano, M. T., Molinie, B., Nelson, J., Neri, F. J., Park, Y., Pierce, B. L., Rinaldi, N. J., Rizzardi, L. F., Sandstrom, R., Skol, A., Smith, K. S., Snyder, M. P., Stamatoyannopoulos, J., Tang, H., Wang, L., Wang, M., Van Wittenberghe, N., Wu, F., Zhang, R., Nierras, C. R., Branton, P. A., Carithers, L. J., Guan, P., Moore, H. M., Rao, A., Vaught, J. B., Gould, S. E., Lockart, N. C., Martin, C., Struewing, J. P., Volpi, S., Addington, A. M., Koester, S. E., Little, A. R., Brigham, L. E., Hasz, R., Hunter, M., Johns, C., Johnson, M., Kopen, G., Leinweber, W. F., Lonsdale, J. T., McDonald, A., Mestichelli, B., Myer, K., Roe, B., Salvatore, M., Shad, S., Thomas, J. A., Walters, G., Washington, M., Wheeler, J., Bridge, J., Foster, B. A., Gillard, B. M., Karasik, E., Kumar, R., Miklos, M., Moser, M. T., Jewell, S. D., Montroy, R. G., Rohrer, D. C., Valley, D. R., Davis, D. A., Mash, D. C., Undale, A. H., Smith, A. M., Tabor, D. E., Roche, N. V., McLean, J. A., Vatanian, N., Robinson, K. L., Sobin, L., Barcus, M. E., Valentino, K. M., Qi, L., Hunter, S., Hariharan, P., Singh, S., Um, K. S., Matose, T., Tomaszewski, M. M., Barker, L. K., Mosavel, M., Siminoff, L. A., Traino, H. M., Flicek, P., Juettemann, T., Ruffier, M., Sheppard, D., Taylor, K., Trevanion, S. J., Zerbino, D. R., Craft, B., Goldman, M., Haeussler, M., Kent, W. J., Lee, C. M., Paten, B., Rosenbloom, K. R., Vivian, J., Zhu, J., Nicolae, D. L., Cox, N. J. & Im, H. K., Dec 1 2018, In: Nature communications. 9, 1, 1825.

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    511 Scopus citations
  • Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men

    Krausz, C., Riera-Escamilla, A., Moreno-Mendoza, D., Holleman, K., Cioppi, F., Algaba, F., Pybus, M., Friedrich, C., Wyrwoll, M. J., Casamonti, E., Pietroforte, S., Nagirnaja, L., Lopes, A. M., Kliesch, S., Pilatz, A., Carrell, D. T., Conrad, D. F., Ars, E., Ruiz-Castañé, E., Aston, K. I., & 2 othersBaarends, W. M. & Tüttelmann, F., Dec 2020, In: Genetics in Medicine. 22, 12, p. 1956-1966 11 p.

    Research output: Contribution to journalArticlepeer-review

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    79 Scopus citations
  • Genetic effects on gene expression across human tissues

    GTEx Consortium, Oct 11 2017, In: Nature. 550, 7675, p. 204-213 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    2330 Scopus citations
  • Genome sequencing of Pakistani families with male infertility identifies deleterious genotypes in SPAG6, CCDC9, TKTL1, TUBA3C, and M1AP

    Khan, M. R., Akbari, A., Nicholas, T. J., Castillo-Madeen, H., Ajmal, M., Haq, T. U., Laan, M., Quinlan, A. R., Ahuja, J. S., Shah, A. A. & Conrad, D. F., 2023, (Accepted/In press) In: Andrology.

    Research output: Contribution to journalArticlepeer-review

  • Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

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    661 Scopus citations
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    Wilfert, A. B., Chao, K. R., Kaushal, M., Jain, S., Zöllner, S., Adams, D. R. & Conrad, D. F., Dec 1 2016, In: Nature genetics. 48, 12, p. 1455-1461 7 p.

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    31 Scopus citations
  • Genomic study of TEX15 variants: prevalence and allelic heterogeneity in men with spermatogenic failure

    Qureshi, S., Hardy, J. J., Pombar, C., Berman, A. J., Malcher, A., Gingrich, T., Hvasta, R., Kuong, J., Munyoki, S., Hwang, K., Orwig, K. E., Ahmed, J., Olszewska, M., Kurpisz, M., Conrad, D. F., Jaseem Khan, M. & Yatsenko, A. N., 2023, In: Frontiers in Genetics. 14, 1134849.

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  • Global variation in copy number in the human genome

    Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., Andrews, T. D., Fiegler, H., Shapero, M. H., Carson, A. R., Chen, W., Cho, E. K., Dallaire, S., Freeman, J. L., González, J. R., Gratacòs, M., Huang, J., Kalaitzopoulos, D., Komura, D., MacDonald, J. R., Marshall, C. R., & 23 othersMei, R., Montgomery, L., Nishimura, K., Okamura, K., Shen, F., Somerville, M. J., Tchinda, J., Valsesia, A., Woodwark, C., Yang, F., Zhang, J., Zerjal, T., Zhang, J., Armengol, L., Conrad, D. F., Estivill, X., Tyler-Smith, C., Carter, N. P., Aburatani, H., Lee, C., Jones, K. W., Scherer, S. W. & Hurles, M. E., Nov 23 2006, In: Nature. 444, 7118, p. 444-454 11 p.

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    3413 Scopus citations
  • Haplotypic background of a private allele at high frequency in the Americas

    Schroeder, K. B., Jakobsson, M., Crawford, M. H., Schurr, T. G., Boca, S. M., Conrad, D. F., Tito, R. Y., Osipova, L. P., Tarskaia, L. A., Zhadanov, S. I., Wall, J. D., Pritchard, J. K., Malhi, R. S., Smith, D. G. & Rosenberg, N. A., May 2009, In: Molecular Biology and Evolution. 26, 5, p. 995-1016 22 p.

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    57 Scopus citations
  • Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

    Ansari, M., Faour, K. N. W., Shimamura, A., Grimes, G., Kao, E. M., Denhoff, E. R., Blatnik, A., Ben-Isvy, D., Wang, L., Helm, B. M., Firth, H., Breman, A. M., Bijlsma, E. K., Iwata-Otsubo, A., de Ravel, T. J. L., Fusaro, V., Fryer, A., Nykamp, K., Stühn, L. G., Haack, T. B., & 36 othersKorenke, G. C., Constantinou, P., Bujakowska, K. M., Low, K. J., Place, E., Humberson, J., Napier, M. P., Hoffman, J., Juusola, J., Deardorff, M. A., Shao, W., Rockowitz, S., Krantz, I., Kaur, M., Raible, S., Dortenzio, V., Kliesch, S., Singer-Berk, M., Groopman, E., DiTroia, S., Ballal, S., Srivastava, S., Rothfelder, K., Biskup, S., Rzasa, J., Kerkhof, J., McConkey, H., Sadikovic, B., Hilton, S., Banka, S., Tüttelmann, F., Conrad, D. F., O'Donnell-Luria, A., Talkowski, M. E., FitzPatrick, D. R. & Boone, P. M., Apr 11 2024, In: Human Genetics and Genomics Advances. 5, 2, 100273.

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  • How to Map the Genetic Basis for Conditions that are Comorbid with Male Infertility

    Nagirnaja, L., Vigh-Conrad, K. & Conrad, D. F., May 1 2017, In: Seminars in Reproductive Medicine. 35, 3, p. 225-230 6 p.

    Research output: Contribution to journalArticlepeer-review

    2 Scopus citations
  • Human INHBB Gene Variant (c.1079T>C:p.Met360Thr) Alters Testis Germ Cell Content, but Does Not Impact Fertility in Mice

    Houston, B. J., O'Connor, A. E., Wang, D., Goodchild, G., Merriner, D. J., Luan, H., Conrad, D. F., Nagirnaja, L., Aston, K. I., Kliesch, S., Wyrwoll, M. J., Friedrich, C., Tuttelmann, F., Harrison, C., Obryan, M. K. & Walton, K., Mar 1 2022, In: Endocrinology. 163, 3, bqab269.

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    2 Scopus citations