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William B Dobyns

 https://orcid.org/0000-0002-7681-2844
1979 …2026

Research activity per year

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Expertise related to UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being
  2. SDG 7 - Affordable and Clean Energy
    SDG 7 Affordable and Clean Energy

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Collaborations and top research areas from the last five years

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  • Cerebroretinal Microangiopathy with Calcifications and Cysts (CRMCC): A 5-Year Diagnostic Challenge

    Foley, M. J., Cole, M., Sandoval-Garcia, C., Galvin, R. T., Dobyns, W. B., McClelland, C. M. & Özütemiz, C., May 2026, In: Diagnostics. 16, 10, 1432.

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

    Open Access

  • Response to Kane and Coleman

    Basava, S. & Dobyns, W. B., Jan 2026, In: Genetics in Medicine. 28, 1, 101616.

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

  • SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum

    Lee, E., Sim, S., Choi, H. J., Liang, E. Y., Le, C., Bina, R., Cohen, R., George, E., Kim, S. Y., Bhat, G., Falsey, E., Sidlow, R., Clinard, K., Ben-Shachar, S., England, E., Menendez, B., Herman, I., Nielsen, S., Punetha, J. & Bhola, P. & 32 others, Hamm, J. A., Keeney, M. A., Sitzman, N., Berger, S., Mehta, L., Conn, A. J., Downie, L., Ashfaq, M., Northrup, H., Bruel, A. L., Odent, S., Szot, J. O., Martinez, N. N., Park, S., Refkin, J., Good, J. M., Maurer, F., Le Caignec, C., Coman, D. J., Anderson, E., Richards, L. J., Dean, R. J., Yang, C., Choi, C., Hwang, B. J., Lee, J. S., Dobyns, W. B., Choi, M., Sherr, E. H., Chae, J. H., Kee, Y. & Argilli, E., 2026, In: Human molecular genetics. 35, 4, ddag003.

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

    Open Access

  • A clinical and genotype-phenotype analysis of MACF1 variants

    Dekker, J., Schot, R., Aldinger, K. A., Everman, D. B., Washington, C., Jones, J. R., Sullivan, J. A., Spillmann, R. C., Shashi, V., Vitobello, A., Denommé-Pichon, A. S., Mosca-Boidron, A. L., Perrin, L., Auvin, S., Zaki, M. S., Gleeson, J. G., Meave, N., Wallace, C., Nambot, S. & Delanne, J. & 70 others, Ruggiero, S. M., Helbig, I., Fitzgerald, M. P., Leventer, R. J., Grange, D. K., Argilli, E., Sherr, E. H., Prakash, S., Neilson, D. E., Nicita, F., Sferra, A., Bertini, E. S., Aiello, C., Brockmann, K., Kuranov, A. B., Kaulfuss, S., Basit, S., Alluqmani, M., Almatrafi, A., Friedman, J. M., Guimond, C., Mohammed, F., Sharma, P., Goel, D., Wirth, T., Anheim, M., Bahena, P., Koparir, A., Kolokotronis, K., Vona, B., Haaf, T., Kunstmann, E., Maroofian, R., Sczakiel, H. L., Boschann, F., Misra-Isrie, M., Louie, R. J., Stolerman, E. S., Sanchez-Lara, P. A., Mergler, S., Oegema, R., Zarate, Y. A., Kariminejad, A., Tajsharghi, H., Zeidler, S., Kievit, A. J. A., Bouman, A., Cappuccio, G., Brunetti-Pierri, N., Stuurman, K. E., Swols, D. M., Tekin, M., Upadia, J., Martin, D. M., Craven, D., Hiatt, S. M., van de Pol, L. A., D'Arco, F., Margot, H., Wilke, M., Yousefi, S., Barakat, T. S., van Veghel-Plandsoen, M. M., Aronica, E., Anink, J., Rogers, S. L., Slep, K. C., Doherty, D., Dobyns, W. B. & Mancini, G. M. S., Oct 2 2025, In: American Journal of Human Genetics. 112, 10, p. 2363-2380 18 p.

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

    Open Access

  • BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

    University of Washington Center for Mendelian Genomics (UW-CMG), C4RCD Research Group & Telethon Undiagnosed Disease Program (TUDP), Mar 2025, In: European Journal of Human Genetics. 33, 3, p. 312-324 13 p., 103969.

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

    Open Access
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