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Don Conrad

Division Chief/Associate Professor

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

Research activity per year

Search results

  • Review article

    A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships

    Houston, B. J., Riera-Escamilla, A., Wyrwoll, M. J., Salas-Huetos, A., Xavier, M. J., Nagirnaja, L., Friedrich, C., Conrad, D. F., Aston, K. I., Krausz, C., Tüttelmann, F., O'bryan, M. K., Veltman, J. A. & Oud, M. S., Jan 1 2022, In: Human Reproduction Update. 28, 1, p. 15-29 15 p.

    Research output: Contribution to journal › Review article › peer-review

    Open Access
    107 Scopus citations

  • Genetic intersection of male infertility and cancer

    Nagirnaja, L., Aston, K. I. & Conrad, D. F., Jan 2018, In: Fertility and sterility. 109, 1, p. 20-26 7 p.

    Research output: Contribution to journal › Review article › peer-review

    Open Access
    45 Scopus citations

  • Guidelines for investigating causality of sequence variants in human disease

    MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., Barrett, J. C., Biesecker, L. G., Conrad, D. F., Cooper, G. M., Cox, N. J., Daly, M. J., Gerstein, M. B., Goldstein, D. B., Hirschhorn, J. N., Leal, S. M., & 7 othersPennacchio, L. A., Stamatoyannopoulos, J. A., Sunyaev, S. R., Valle, D., Voight, B. F., Winckler, W. & Gunter, C., 2014, In: Nature. 508, 7497, p. 469-476 8 p.

    Research output: Contribution to journal › Review article › peer-review

    Open Access
    978 Scopus citations

  • Improved phenotypic classification of male infertility to promote discovery of genetic causes

    Wyrwoll, M. J., van der Heijden, G. W., Krausz, C., Aston, K. I., Kliesch, S., McLachlan, R., Ramos, L., Conrad, D. F., O’Bryan, M. K., Veltman, J. A. & Tüttelmann, F., Feb 2024, In: Nature Reviews Urology. 21, 2, p. 91-101 11 p.

    Research output: Contribution to journal › Review article › peer-review

    2 Scopus citations
  • Letter

    Defective piRNA Processing and Azoospermia. Reply

    Conrad, D. F. & Almstrup, K., Apr 28 2022, In: The New England journal of medicine. 386, 17, p. 1676 1 p.

    Research output: Contribution to journal › Letter › peer-review

    5 Scopus citations

  • Lack of evidence for a role of PIWIL1 variants in human male infertility

    Oud, M. S., Volozonoka, L., Friedrich, C., Kliesch, S., Nagirnaja, L., Gilissen, C., O'Bryan, M. K., McLachlan, R. I., Aston, K. I., Tüttelmann, F., Conrad, D. F. & Veltman, J. A., Apr 15 2021, In: Cell. 184, 8, p. 1941-1942 2 p.

    Research output: Contribution to journal › Letter › peer-review

    Open Access
    6 Scopus citations
  • Editorial

    Towards a comprehensive structural variation map of an individual human genome

    Pang, A. W., MacDonald, J. R., Pinto, D., Wei, J., Rafiq, M. A., Conrad, D. F., Park, H., Hurles, M. E., Lee, C., Venter, J. C., Kirkness, E. F., Levy, S., Feuk, L. & Scherer, S. W., May 19 2010, In: Genome biology. 11, 5, R52.

    Research output: Contribution to journal › Editorial › peer-review

    Open Access
    228 Scopus citations
  • Comment/debate

    Correction to: Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia (Human Genetics, (2021), 140, 1, (217-227), 10.1007/s00439-020-02236-1)

    GEMINI Consortium, Jan 2021, In: Human genetics. 140, 1, p. 229 1 p.

    Research output: Contribution to journal › Comment/debate › peer-review

    Open Access

  • Erratum: Rare and de novo coding variants in chromodomain genes in Chiari I malformation (The American Journal of Human Genetics (2021) 108(1) (100–114), (S0002929720304377), (10.1016/j.ajhg.2020.12.001))

    Sadler, B., Wilborn, J., Antunes, L., Kuensting, T., Hale, A. T., Gannon, S. R., McCall, K., Cruchaga, C., Harms, M., Voisin, N., Reymond, A., Cappuccio, G., Brunetti-Pierri, N., Tartaglia, M., Niceta, M., Leoni, C., Zampino, G., Ashley-Koch, A., Urbizu, A., Garrett, M. E., & 11 othersSoldano, K., Macaya, A., Conrad, D., Strahle, J., Dobbs, M. B., Turner, T. N., Shannon, C. N., Brockmeyer, D., Limbrick, D. D., Gurnett, C. A. & Haller, G., Mar 4 2021, In: American Journal of Human Genetics. 108, 3, p. 530-531 2 p.

    Research output: Contribution to journal › Comment/debate › peer-review

    Open Access
    3 Scopus citations

  • Erratum: Rare and de novo coding variants in chromodomain genes in Chiari I malformation (The American Journal of Human Genetics (2021) 108(1) (100–114), (S0002929720304377), (10.1016/j.ajhg.2020.12.001))

    Sadler, B., Wilborn, J., Antunes, L., Kuensting, T., Hale, A. T., Gannon, S. R., McCall, K., Cruchaga, C., Harms, M., Voisin, N., Reymond, A., Cappuccio, G., Brunetti-Pierri, N., Tartaglia, M., Niceta, M., Leoni, C., Zampino, G., Ashley-Koch, A., Urbizu, A., Garrett, M. E., & 11 othersSoldano, K., Macaya, A., Conrad, D., Strahle, J., Dobbs, M. B., Turner, T. N., Shannon, C. N., Brockmeyer, D., Limbrick, D. D., Gurnett, C. A. & Haller, G., Feb 4 2021, In: American Journal of Human Genetics. 108, 2, p. 368 1 p.

    Research output: Contribution to journal › Comment/debate › peer-review

    Open Access
    3 Scopus citations

  • The long and short of translational control in male germ cells

    Lima, A. C. & Conrad, D. F., Jul 2017, In: Biology of reproduction. 97, 1, p. 2-4 3 p.

    Research output: Contribution to journal › Comment/debate › peer-review

    Open Access
  • Chapter

    A review of genome-wide approaches to study the genetic basis for spermatogenic defects

    Aston, K. I. & Conrad, D. F., 2013, Biomolecular Simulations: Biomolecular Simulations. Humana Press Inc., p. 397-410 14 p. (Methods in Molecular Biology; vol. 927).

    Research output: Chapter in Book/Report/Conference proceeding › Chapter

    33 Scopus citations

  • Population genetics and disease

    Conrad, D. F. & Pritchard, J. K., Jan 1 2007, Genes and Common Diseases. Cambridge University Press, p. 44-58 15 p.

    Research output: Chapter in Book/Report/Conference proceeding › Chapter

    1 Scopus citations

  • The sperm epigenome: A role in embryogenesis and fetal health?

    Conrad, D. F. & Dorais, J., Jan 1 2010, Paternal Influences on Human Reproductive Success. Cambridge University Press, p. 16-26 11 p.

    Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • The sperm genome: Effect of aneuploidies, structural variations, single nucleotide changes, and DNA damage on embryogenesis and development

    Aston, K. I. & Conrad, D. F., Jan 1 2010, Paternal Influences on Human Reproductive Success. Cambridge University Press, p. 6-15 10 p.

    Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • 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 journal › Article › peer-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 journal › Article › peer-review

    Open Access
    30 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 journal › Article › peer-review

    Open Access
    23 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 journal › Article › peer-review

    541 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 journal › Article › peer-review

    Open Access
    6204 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 journal › Article › peer-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 journal › Article › peer-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 journal › Article › peer-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 journal › Article › peer-review

    Open Access
    197 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 journal › Article › peer-review

    Open Access
    30 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 journal › Article › peer-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 journal › Article › peer-review

    Open Access
    919 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 journal › Article › peer-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 journal › Article › peer-review

    388 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 journal › Article › peer-review

    Open Access
    54 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 journal › Article › peer-review

    Open Access
    88 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 journal › Article › peer-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 journal › Article › peer-review

    Open Access
    158 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 journal › Article › peer-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 journal › Article › peer-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 journal › Article › peer-review

    Open Access
    105 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 journal › Article › peer-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.

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    Open Access
    27 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.

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    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.

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    1 Scopus citations

  • 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.

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    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

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    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.

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    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.

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    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 journal › Article › peer-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.

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    Open Access
    17 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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    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 journal › Article › peer-review

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    391 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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    Open Access
    3 Scopus citations