Skip to main navigation Skip to search Skip to main content
Bruce Gelb

View Scopus Profile

Bruce Gelb

MD

 https://orcid.org/0000-0001-8527-5027
1990 …2026

Research activity per year

Personal profile

Headline

DIRECTOR MINDICH CHILD HEALTH AND DEVELOPMENT INSTITUTE PROFESSOR

Biography


Fingerprint

Dive into the research topics where Bruce Gelb 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

  • A novel spliceosomopathy caused by de novo SF3B3 variants

    Musante, L., Janos, P., Pianigiani, G., Cappelli, S., Longo, A., Alves, C., Schwaibold, E. M. C., Wagner, M., Costain, G., Fridriksdottir, R., Stefansson, K., Sulem, P., Lichtenbelt, K. D., van Binsbergen, E., van Jaarsveld, R. H., Brusco, A., Pavinato, L., Biamino, E., Spano, A. & Hildebrandt, C. C. & 29 others, Chan, Y. M., Groopman, E., Berkenstadt, M., Koboldt, D., Williamson, R., Brunner, H. G., Vissers, L. E. L. M., Torring, P. M., Hao, Q., Gelb, B. D., Goldmuntz, E., Reed, K., Bedoukian, E. C., Vecchio, D., Salzano, E., Piccione, M., Zanus, C., Mio, C., Eichler, E. E., Wang, T., Patterson, W. G., Butler, K. M., Piotrowski, M., Mercier, S., Cogné, B., Wentzensen, I. M., Buratti, E., Magistrato, A. & Faletra, F., Dec 2026, In: Genome Medicine. 18, 1, 34.

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

    Open Access

  • Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association

    Keehan, L. A., Ono-Minagi, H., Hadhud, M., Rips, J., Hinds, D. M., Fischer, A. J., Bartlett, J. A., McCray, P. B., Qawasmi, N., Nathan, N., Louvrier, C., Desroziers, T., Damme, M., Griese, M., Wegner, D. J., Cole, F. S., Wambach, J. A., Wheeler, M. T., Burbelo, P. D. & Bonner, D. E. & 335 others, Tran, A. A., Tarakad, A., Balasubramanyam, A., Lee, B. H., Bacino, C. A., Scott, D. A., Seto, E., Clark, G. D., Dai, H., Chao, H. T., Chinn, I., Orengo, J. P., Posey, J. E., Rosenfeld, J. A., Worley, K., Burrage, L. C., Emrick, L. T., Potocki, L., Hubshman, M. W., Lewis, R. A., Marom, R., Lalani, S. R., Ketkar, S., Vogel, T. P., Craigen, W. J., Sninsky, J., Blieden, L., Nagamani, S., Bellen, H. J., Wangler, M. F., Kanca, O., Yamamoto, S., Eng, C. M., Ward, P. A., Liu, P., Vanderver, A., Skraban, C., Behrens, E., Kilich, G., Sullivan, K., Hassey, K., Rajagopalan, R., Ganetzky, R., Cuddapah, V., Raper, A., Rader, D. J., Sirugo, G., Jobanputra, V., McConkie-Rosell, A., Schoch, K., Mikati, M., Walley, N. M., Spillmann, R. C., Shashi, V., Beggs, A. H., MacRae, C. A., Sweetser, D. A., Rao, D. A., Silverman, E. K., Fieg, E. L., High, F., Berry, G. T., Holm, I. A., Pallais, J. C., Stoler, J. M., Loscalzo, J., Rodan, L. H., Cobban, L. A., Briere, L. C., Coggins, M., Walker, M., Maas, R. L., Korrick, S., Douglas, J., Esteves, C., Glanton, E., Kohane, I. S., LeBlanc, K., Mahoney, R., Sunyaev, S. R., Kobren, S. N., Graham, B. H., Conboy, E., Vetrini, F., Treat, K. M., Liaqat, K., Mantcheva, L., Ware, S. M., Mitchell, B., Lanpher, B. C., Oglesbee, D., Klee, E., Pinto e Vairo, F., Lanza, I. R., Darr, K., Mulvihill, L., Schimmenti, L., Tan, Q., Dasari, S., Elkadri, A., Bordini, B., Basel, D., Verbsky, J., McCarrier, J., Muriello, M., Zimmermann, M., Rebelo, A., Smith, C. A., Barbouth, D., Bademci, G., Gonzalez, J. M., Latchman, K., Peart, L., Tekin, M., Borja, N., Zuchner, S., Bivona, S., Thorson, W., Taylor, H., Quarells, R. C., Iverson, A., Gelb, B., Cunningham-Rundles, C., Gayle, E., Jen, J., Bier, L., Barbosa, M., Balwani, M., Shadrina, M., Evard, R., Shuman, S., Shin, S., Gropman, A., Pusey Swerdzewski, B. N., Toro, C., Wahl, C. E., Novacic, D., Macnamara, E. F., Mulvihill, J. J., Acosta, M. T., D'Souza, P., Maduro, V. V., Afzali, B., Solomon, B., Tifft, C. J., Adams, D. R., Burke, E. A., Rossignol, F., Wood, H., Fu, J., Davis, J., Petcharet, L., Wolfe, L. A., Delgado, M., Morimoto, M., Sabaii, M., Malicdan, M. C. V., Hanchard, N., Jean-Marie, O., Introne, W., Gahl, W. A., Huang, Y., Stergachis, A., Miller, D., Rosenthal, E., Blue, E., Balton, E., Shelkowitz, E., Allenspach, E., Hisama, F. M., Jarvik, G. P., Mirzaa, G., Glass, I., Leppig, K. A., Dipple, K., Wener, M., Horike-Pyne, M., Bamshad, M., Byers, P., Kumar, R., Perlman, S., Chanprasert, S., Sybert, V., Raskind, W., Dargie, N. K., Chan, C. H., Bustos Velasq, D. F., Ward, I., Schend, J., Morgan, J., Bell, M., Leitheiser, M., Saifeddine, M., Berger, P., Li, R., Beagle, T., Miller, A., Anguiano, B., Martin, B. A., Tucker, B., Reuter, C. M., Bonner, D., Kravets, E., Mendez, H. R., Tabor, H. K., Sampson, J. B., Hom, J., Kohler, J. N., Schymick, J., Gorzynski, J. E., Bernstein, J. A., Smith, K. S., Keehan, L., Wiel, L., Wheeler, M. T., Halley, M. C., Levanto, M., Goddard, P. C., Fisher, P. G., Ungar, R. A., Alvarez, R. L., Emami, S., Marwaha, S., Montgomery, S. B., Bachir, S., Jensen, T. D., Maurer, T., Coakley, T. R., Ashley, E. A., Al-Beshri, A., Hurst, A., Wilk, B. M., Korf, B., Worthey, E. A., Callaway, K., Rodriguez, M., Skelton, T., Mamidi, T. K. K., Crouse, A. B., Whitlock, J., Nakano-Okuno, M., Might, M., Byrd, W. E., La Spada, A. R., Xiao, C., Chao, E. C., Vilain, E., Abdenur, J., Blanco, K., Steenari, M. R., Barrick, R., Chang, R., Attaripour, S., Sandmeyer, S., Mozaffar, T., Huang, A., Vargas, A., Russell, B. E., Fogel, B. L., Dell'Angelica, E. C., Carvalho, G., Martínez-Agosto, J. A., Abi Farraj, L. F., Butte, M. J., Martin, M. G., Dorrani, N., Parker, N. H., Corona, R. I., Nelson, S. F., Karasozen, Y., Quinlan, A., Ward, A., Andrews, A., Welt, C. K., Viskochil, D., Baldwin, E. E., Carey, J., Alvey, J., Pace, L., Botto, L., Longo, N., Moretti, P., Overbury, R., Butterfield, R., Boyden, S., Nicholas, T. J., Velinder, M., Marth, G., Bayrak-Toydemir, P., Mao, R., Westerfield, M., Corner, B., Phillips, J. A., Ezell, K., Rives, L., Hamid, R., Neumann, S., McMinn, A., Cogan, J. D., Cassini, T., Paul, A., Kiley, D., Wegner, D., McRoy, E., Wambach, J., Sisco, K., Dickson, P., Cole, F. S., Baldridge, D., Shin, J., Solnica-Krezel, L., Pak, S. C., Schedl, T., Bale, A., Oladele, C., Hendry, C., Wang, E., Xu, H., Zhang, H., Jeffries, L., Ortuño Romero, M. J., Gerstein, M., Spencer-Manzon, M., Lek, M., Derar, N., Kaufman, O., Mane, S., Serrano, T. J., Vasiliou, V., Halstead, W., Jiang, Y. H., Bernstein, J. A., Chiorini, J. A., Breuer, O. & Milla, C., Apr 2026, In: Genetics in Medicine. 28, 4, 102531.

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

    Open Access
    2 Scopus citations

  • Cancer risk in adults with pathogenic germline variants in RAS/MAPK genes using genomic ascertainment

    Kim, J., Ney, G., Frone, M. N., Haley, J. S., Ramos, M. L. F., Mirshahi, U. L., Astiazaran-Symonds, E., Shandrina, M., Urban, G., Rao, H. S., Stahl, R. C., Golden, A., Yohe, M. E., Gross, A. M., Ding, Y., Carey, D. J., Gelb, B. D. & Stewart, D. R., Jun 2026, In: Genetics in Medicine. 28, 6, 102561.

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

    Open Access

  • cellSTAAR: incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of noncoding regions

    NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Feb 2026, In: Nature Methods. 23, 2, p. 338-349 12 p.

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

  • DNASE1L3 Deficiency With Novel Missense Variant: Enzymatic and Plasma Fragmentomic Evidence of Pathogenicity and Partial Response to JAK Blockade

    Undiagnosed Diseases Network, Feb 2026, In: ACR Open Rheumatology. 8, 2, e70184.

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

    Open Access
View all 397 Research outputs
View all 82 press/media