Bruce D. Gelb
Affiliations: | Genetics and Genomic Sciences | Icahn School of Medicine at Mount Sinai, New York, NY, United States |
Area:
Genetics, Biochemistry, Human Development, Cell BiologyGoogle:
"Bruce Gelb"Mean distance: (not calculated yet)
Children
Sign in to add traineeWu-Shiun Hou | grad student | 2001 | Mount Sinai School of Medicine |
Rebecca Josowitz | grad student | 2014 | Mount Sinai School of Medicine |
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Publications
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Schneeberger PE, Kortüm F, Korenke GC, et al. (2020) Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. Brain : a Journal of Neurology |
Gruber CN, Calis JJA, Buta S, et al. (2020) Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function. Immunity |
Motta M, Pannone L, Pantaleoni F, et al. (2020) Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum. American Journal of Human Genetics |
Richter F, Morton SU, Kim SW, et al. (2020) Genomic analyses implicate noncoding de novo variants in congenital heart disease. Nature Genetics |
Van Driest SL, Sleeper LA, Gelb BD, et al. (2020) Variants in ADRB1 and CYP2C9: Association with Response to Atenolol and Losartan in Marfan Syndrome. The Journal of Pediatrics. 222: 213-220.e5 |
Ruzzi LR, Schilman PE, San Martin A, et al. (2020) The Phosphatase CSW Controls Life Span by Insulin Signaling and Metabolism Throughout Adult Life in . Frontiers in Genetics. 11: 364 |
Edwards JJ, Rouillard AD, Fernandez NF, et al. (2020) Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. Jacc. Basic to Translational Science. 5: 376-386 |
Hsieh A, Morton SU, Willcox JAL, et al. (2020) EM-mosaic detects mosaic point mutations that contribute to congenital heart disease. Genome Medicine. 12: 42 |
Linglart L, Gelb BD. (2020) Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics |
Sevim Bayrak C, Zhang P, Tristani-Firouzi M, et al. (2020) De novo variants in exomes of congenital heart disease patients identify risk genes and pathways. Genome Medicine. 12: 9 |