Research output per year
Research output per year
Personal profile
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DIRECTOR MINDICH CHILD HEALTH AND DEVELOPMENT INSTITUTE PROFESSOR
Biography
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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.
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Collaborations and top research areas from the last five years
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2024 ASHG presidential address: Incomplete penetrance and variable expressivity: Old concepts, new urgency
Gelb, B. D., 6 Mar 2025, In: American Journal of Human Genetics. 112, 3, p. 461-466 6 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome
the Developmental Synaptopathies Consortium, Jan 2025, In: American Journal of Medical Genetics, Part A. 197, 1, e63872.Research output: Contribution to journal › Article › peer-review
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Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data
Kars, M. E., Stein, D., Stenson, P. D., Cooper, D. N., Chung, W. K., Gruber, P. J., Seidman, C. E., Shen, Y., Tristani-Firouzi, M., Gelb, B. D. & Itan, Y., 6 Mar 2025, In: American Journal of Human Genetics. 112, 3, p. 583-598 16 p.Research output: Contribution to journal › Article › peer-review
2 Scopus citations -
Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia
Harrison, B. A., Mizrahi-Powell, E., Pappas, J., Thomas, K., Vasishta, S., Hebbar, S., Shukla, A., Nayak, S. S., Truong, T. K., Woroch, A., Kharbutli, Y., Gelb, B. D., Mintz, C. S., Evrony, G. D. & Smogorzewska, A., 2 Jun 2025, In: Journal of Clinical Investigation. 135, 11, e185126.Research output: Contribution to journal › Article › peer-review
6 Scopus citations -
Efficient identification of de novo mutations in family trios: a consensus-based informatic approach
Shadrina, M., Kalay, Ö., Demirkaya-Budak, S., Leduc, C. A., Chung, W. K., Turgut, D., Budak, G., Arslan, E., Semenyuk, V., Davis-Dusenbery, B., Seidman, C. E., Yost, H. J., Jain, A. & Gelb, B. D., Jun 2025, In: Life Science Alliance. 8, 6, e202403039.Research output: Contribution to journal › Article › peer-review
Open Access
Press/Media
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HMN 2025: How New gene is linked to extreme circumstances of Fanconi anemia
10/05/25
1 item of Media coverage
Press/Media
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Icahn School of Medicine at Mount Sinai Details Findings in Congenital Heart Disease (Deciphering the Digenic Architecture of Congenital Heart Disease Using Trio Exome Sequencing Data)
Stein, D., Itan, Y. & Gelb, B.
16/04/25
1 item of Media coverage
Press/Media
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Mount Sinai Opens AI-Driven Center to Transform Children’s Health Care
Davis, K. L., Glicksberg, B., Charney, D., Gelb, B. & Nadkarni, G.
25/03/25
2 items of Media coverage
Press/Media
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Mount Sinai Health opens Center for AI in Children's Health
Davis, K. L., Carr, B., Glicksberg, B., Charney, D., Gelb, B. & Nadkarni, G.
25/03/25
1 item of Media coverage
Press/Media
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Mount Sinai Health opens Center for AI in Children’s Health
Davis, K. L., Glicksberg, B., Charney, D., Gelb, B. & Nadkarni, G.
25/03/25
2 items of Media coverage
Press/Media