Skip to main navigation Skip to search Skip to main content
Bryn Webb

View Scopus Profile

Bryn Webb

MD

20062026

Research activity per year

Personal profile

Headline

ASSISTANT PROFESSOR | Genetics and Genomic Sciences ASSISTANT PROFESSOR | Pediatrics

Biography

Certifications American Board of Pediatrics Clinical Focus Craniofacial Anomalies Goldenhar syndrome Hereditary congenital facial paresis http://www.mountsinai.org/patient-care/health-library/diseases-and-conditions/mitochondrial-myopathy Mitochondrial Myopathy Moebius syndrome Multiple Congenital Anomalies Education MD, University of Texas - Southwestern Medical School Residency, Medical Genetics & Pediatrics Mount Sinai Hospital

Fingerprint

Dive into the research topics where Bryn Webb is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
  • 1 Similar Profiles
View full fingerprint

Collaborations and top research areas from the last five years

Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Explore network further

  • Generation of the induced pluripotent stem cell line ISMMSi061-A from a patient with ataxia, intention tremor, and hypotonia syndrome, childhood-onset

    Liu, N. N., Hu, R., Hubbard, S. J., Salemi, S. E., Baljinnyam, E., Pradhan, P., Smith, G., Webb, B. D. & Marro, S. G., Apr 2026, In: Stem Cell Research. 92, 103938.

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

    Open Access

  • Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing

    Downie, L., Yeo, J., Minten, T., Heald, R., Ansel, D., Baker, M., Balciuniene, J., Berg, J. S., Boemer, F., Chung, W. K., Cope, H. L., Eckstein, D. J., Encina, N., Faivre, L., Ferlini, A., García-Villoria, J., Gelb, M. H., González De Aledo-Castillo, J. M., Golden-Grant, K. & Parad, R. B. & 266 others, Shah, N., Stark, Z., Sund, K. L., Tsipouras, P., To, M., Bick, D., Green, R. C., Adelson, S., Agolini, E., Al-Maraghi, A., Alex, K., Alkuraya, F., Akil, A. A., Alshehri, M., Ansel, D., Armstrong, N., Aujla, M., Bailey, D., Baker, M., Balciuniene, J., Barry, A., Bennetts, B., Berenger, M., Berg, J., Bernstein, D., Bhatatcharjee, A., Bhatt, S., Bick, D., Bishop, T., Bitton, A., Boemer, F., Bonhomme, N., Bowley, G., Boyd, B., Brennenstuhl, H., Brenner, S., Bresnahan, M., Brewster, T., Brooks, P. J., Broomberg, K., Brower, A., Gentile, M., Giordano, J., Jensen, U. G., Godler, D., Gold, N., Goldenberg, A., GoldenGrant, K., Goldman, C., González de Aledo-Castillo, J. M., Gottlieb, D., Green, R., Greene, C., Greenstein, B., Grosse, S., Grueters, A., Gumus, G., Hagman, K., Hall, K., Harmant, A., Hartmanis, S., Hayeems, R., Heald, R., Hegde, M., Heiner-Fokkema, R., Henneman, L., Hernan, B., Hobbs, C., Holm, I., Horwitz, L., Hu, Z., Iascone, M., Irvine, K., Jin, G., Kalbfleisch, K., Nyegaard, M., O'Sullivan, J., Ojodu, J., Orsini, P., Oza, A., Paleologos, K., Parad, R., Peay, H., Pelo, M., Philstrom, C., Pichard, D., Pichini, A., Pichini, A., Pirreca, M., Ponikowska, M., Ponte, A., Posch, A., Powell, C., Protopsaltis, L., Quevedo, Y., Raia, M., Reimer, R., Rohrwasser, A., Rollier, P., Rottensten, L., Rtskhiladze, I., Sachedina, N., Sahyoun, G., Satija, A., Schaaf, C., Schleit, J., Scott, R., Scully, L., Seeloff, S., Brown, G., Buchanan, J., Bupp, C., Cameron, C., Capacchione, L., Carli, D., Ceballo, O. C., Chan, K., Chance, J., Charalambidou, G., Chen, W., Chen, Y. R., Chung, W., Chung, B., Clarke, M., Clasper, S., Cole, F. S., Cope, H., Coury, S., Cox, T., Dangouloff, T., Paul Daniel, E. J., Danielsen, K. E., Davoine, E., Defay, T., Gandhi, G. D., Dewulf, J., Diller, L., Dixit, P., Dolle, M., Downie, L., Drake, E., Drury, S., Duintjer, A., Duz, B., Eckstein, D., Ellinwood, M., Kander, I., Kaplun, L., Kasperaviciute, D., Kassahn, K., Kauko, L., Kaukonen, R., Kelly, N., Khangsar, D., King, J., Kingsley, C., Kingsmore, S., Kirms, B., Klein, R., Koelker, S., Kousa, Y., Krupoderova, E., Kruszka, P., Langley, K., Leckie, C., Lecommandeur, E., Ledbetter, D., Lee, P., Lee, B., Leve, C., Lewis, C., Lewis, A., Liu, R., Longon, M., Lundquist, A., Lunke, S., MacDuffie, K., Malhotra, A., Marcelis, L., Martinez-Fresno, M., Matthijs, G., Melbardis, R., Merritt, J., Servais, L., Shah, N., Siitonen, M., Singh, S., Siu, C., Smith, H., King, L. S., Sondheimer, N., St George, L., Stark, Z., Steiner, R., Stoltze, U., Stray-Pedersen, A., Sund, K., Tafas, P., Teekakirikul, P., Thanos, D., Thurm, A., To, M., Tsipouras, P., Tuff-Lacey, A., Turner, H., Twiss, P., Ulph, F., Uribe, D., Urv, T., Vacher, C., Van Den Bogaert, K., van der Burg, M., Van Steijvoort, E., Veloudi, Y., Vengoechea, E., Voorhoeve, E., Vu, M., Wasserstein, M., Watson, M., Webb, B., Ellsworth, K., Ellsworth, K., Badji, R. M., Wedell, A., Elsea, S., Metherell, L., Westover, T., Encina, N., Mikkelsen, N. B., Wiedemann, A., Etheredge, H., Milko, L., Wright, M., Faivre, L., Miller, N., Wu, C., Ferlini, A., Minten, T., Yeo, J., Ferrie, M., Morgan, S., Yin-Hsiu Chien, N., Finkel, T., Mosiewicz, K., Yusuff, S., Furu, P., Mütze, U., Zemojtel, T., Galarza-Cornejo, J., Nicklen, S., Zettler, B., Gao, Y., Niemela, M., Zhao, Z., Garcia-Villoria, J., Niu, D. M., Ziff, J., Gardner, L., Norris, S., Zimmerman, R., Gaviglio, A., Novelli, A., Zuccolo, M., Gelb, M., Nusair, A. & Gold, N. B., Jan 2026, In: Genetics in Medicine. 28, 1, 101618.

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

    Open Access

  • Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: Insights from 13 new cases

    Juliá-Palacios, N., Muñoz-Pujol, G., Maroofian, R., Bertoli-Avella, A. M., Gómez-Chiari, M., Muchart-López, J., Paredes-Fuentes, A. J., O'Callaghan, M., Machado-Casas, I. S., Cristian, I., Morrison, J., Garcia-Cazorla, A., Codina, A., Miryounesi, M., Zonic, E., Bauer, P., Cheema, H., Anjum, M. N., Al-Sannaa, N. & Abd Elmaksoud, M. & 21 others, Ababneh, F., Alijanpour, S., Tonekaboni, S. H., Fayazi, A., Urbaniak, M., Barba, U., Hoenicka, J., Palau, F., Houlden, H., Ortigoza-Escobar, J. D., Ribes, A., Santos-Ocaña, C., Tyler, M., Gaffney, P., Carroll, C. J., Tort, F., Wierenga, K. J., Webb, B. D., Artuch, R., Baide-Mairena, H. & Urreizti, R., 2025, In: Brain Communications. 7, 5, fcaf348.

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

    Open Access
    3 Scopus citations

  • Data-driven consideration of genetic disorders for global genomic newborn screening programs

    ICoNS Gene List Contributors & International Consortium on Newborn Sequencing (ICoNS), Jul 2025, In: Genetics in Medicine. 27, 7, 101443.

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

    Open Access
    22 Scopus citations

  • Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia

    Karger, L. M., Webb, B. D., Edelmann, L., Liao, J. & Mehta, L., May 2025, In: American Journal of Medical Genetics, Part A. 197, 5, e63954.

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

    Open Access
    2 Scopus citations
View all 55 Research outputs
View all 18 press/media