Bryn D Webb, MD Email Bryn Webb
- ASSISTANT PROFESSOR | Genetics and Genomic Sciences
- ASSISTANT PROFESSOR | Pediatrics
- Genetics and Genomics
- Hospital Affiliations
- The Mount Sinai Hospital
- Mount Sinai Beth Israel
Clinical Molecular Genetics
- Birth Defects
- Craniofacial Anomalies
- Goldenhar syndrome
- Hereditary congenital facial paresis
- Mitochondrial Myopathy
- Moebius syndrome
- Multiple Congenital Anomalies
- Oral-Facial Clefts
Gene Discovery, Genetics, Human Genetics and Genetic Disorders
MD, University of Texas - Southwestern Medical School
Residency, Medical Genetics & Pediatrics
Mount Sinai Hospital
Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Bodaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. American journal of human genetics 2017 Aug; 101(2).
Telegrafi A, Webb BD, Robbins SM, Speck-Martins CE, FitzPatrick D, Fleming L, Redett R, Dufke A, Houge G, van Harssel JJ, Verloes A, Robles A, Manoli I, Engle EC, Jabs EW, Valle D, Carey J, Hoover-Fong JE, Sobreira NL. Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. American journal of medical genetics. Part A 2017 Oct; 173(10).
Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bönnemann CG, Olson EN, Carey JC, Robertson SP, Manoli I, Engle EC. A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nature communications 2017 Jul; 8.
Webb BD, Metikala S, Wheeler PG, Sherpa MD, Houten SM, Horb ME, Schadt EE. Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome. Human mutation 2017 Apr; 38(4).
Fedick AM, Jalas C, Swaroop A, Smouha EE, Webb BD. Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population. The application of clinical genetics 2016; 9.
Shi L, Webb BD, Birch AH, Elkhoury L, McCarthy J, Cai X, Oishi K, Mehta L, Diaz GA, Edelmann L, Kornreich R. Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants. Clinical genetics 2017 Apr; 91(4).
Edvardson S, Yi JK, Jalas C, Xu R, Webb BD, Snider J, Fedick A, Kleinman E, Treff NR, Mao C, Elpeleg O. Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy. Journal of medical genetics 2016 Jun; 53(6).
Webb BD, Wheeler PG, Hagen JJ, Cohen N, Linderman MD, Diaz GA, Naidich TP, Rodenburg RJ, Houten SM, Schadt EE. Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss. Human mutation 2015 Jun; 36(6).
Wang J, Liao J, Zhang J, Cheng WY, Hakenberg J, Ma M, Webb BD, Ramasamudram-Chakravarthi R, Karger L, Mehta L. ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories. Genome medicine 2015; 7(1).
Kornreich D, Mitchell AA, Webb BD, Cristian I, Jabs EW, Ma M, Webb BD, Ramasamudram-Chakravarthi R, Karger L, Mehta L, Kornreich R, Diaz GA, Li S, Edelmann L, Chen R. Quantitative Assessment of Facial Asymmetry Using Three-Dimensional Surface Imaging in Adults: Validating the Precision and Repeatability of a Global Approach. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2014 Dec;.
Webb BD, Scharf RJ, Spear EA, Edelmann LJ, Stroustrup A. Evaluation of the Affymetrix CytoScan(®) Dx Assay for developmental delay. Expert review of molecular diagnostics 2015 Feb; 15(2).
Webb BD, Frempong T, Naidich TP, Gaspar H, Jabs EW. Mirror movements identified in patients with moebius syndrome. Tremor and other hyperkinetic movements (New York, N.Y.) 2014; 4.
Rucker JC, Webb BD, Frempong T, Gaspar H, Naidich TP, Jabs EW. Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes. Brain : a journal of neurology 2014 Apr; 137(Pt 4).
Webb BD, Brandt T, Liu L, Jalas C, Liao J, Fedick A. A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population. Clinical genetics 2014 Aug; 86(2).
Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL. A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3. Brain : a journal of neurology 2013 Feb; 136(Pt 2).
Webb BD, Shaaban S, Gaspar H, Cunha LF, Schubert CR, Hao K, Robson CD, Chan WM, Andrews C, Mackinnon S, Oystreck DT, Hunter DG, Iacovelli AJ, Ye X, Camminady A, Engle EC, Jabs EW. HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1(-/-) Mice. American journal of human genetics 2012 Jul; 91(1).
Chassaing N, Sorrentino S, Davis EE, Martin-Coignard D, Iacovelli A, Paznekas W, Webb BD, Faye-Petersen O, Encha-Razavi F, Lequeux L, Vigouroux A, Yesilyurt A, Boyadjiev SA, Kayserili H, Loget P, Carles D, Sergi C. OTX2 mutations contribute to the otocephaly-dysgnathia complex. Journal of medical genetics 2012 Jun; 49(6).
Webb BD, Barrera M, Beyene J, Carcao M, Daneman D, Elliott I, Gong GW, Halperin IJ, Lord S, Melville H, Narayanan UG, Ota S, Solomon M, Sung L, Young NL, Zachos M, Feldman BM, Puvabanditsin S, Chen CP, Etchevers HC, Katsanis N, Mercer CL, Calvas P, Jabs EW. Determinants of quality of life in children with chronic somatic disease: pilot data from the GapS Questionnaire. Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation 2012 Mar;.
Webb BD, Weinreb NJ, Botti AC, Kirmse BM, Balwani M, Elliott I, Gong GW, Halperin IJ, Lord S, Melville H, Narayanan UG, Ota S, Solomon M, Sung L, Young NL, Zachos M, Feldman BM. JAK2V617F mutation and myeloproliferative malignancy in a patient with Type 1 Gaucher disease. Blood cells, molecules & diseases 2011 Jan; 46(1).
Crawford GE, Holt IE, Whittle J, Webb BD, Tai D. Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS). Genome research 2006 Jan; 16(1).
Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device and biotechnology companies to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their relationships with such companies.
Dr.Webb did not report having any of the following types of financial relationships with industry during 2017 and/or 2018: consulting, scientific advisory board, industry-sponsored lectures, service on Board of Directors, participation on industry-sponsored committees, equity ownership valued at greater than 5% of a publicly traded company or any value in a privately held company. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.
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