Projects 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
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Projects
- 1 Finished
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Integrative Approach To Study Mitochondrial Aminoacyl-tRNA Synthetase Disorders
National Institute of Child Health and Human Development
20/09/16 → 30/06/21
Project: Research
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Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency
Webb, B. D., Nowinski, S. M., Solmonson, A., Ganesh, J., Rodenburg, R. J., Leandro, J., Evans, A., Vu, H. S., Naidich, T. P., Gelb, B. D., DeBerardinis, R. J., Rutter, J. & Houten, S. M., 7 Mar 2023, In: eLife. 12Research output: Contribution to journal › Article › peer-review
Open Access -
A novel deleterious ETFA promoter variant causative of multiple acyl-CoA dehydrogenase deficiency
Prasun, P., Evans, A., Cork, E., Houten, S. M. & Webb, B. D., Apr 2023, In: American Journal of Medical Genetics, Part A. 191, 4, p. 1089-1093 5 p.Research output: Contribution to journal › Article › peer-review
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A framework for the evaluation of patients with congenital facial weakness
Webb, B. D., Manoli, I., Engle, E. C. & Jabs, E. W., Dec 2021, In: Orphanet Journal of Rare Diseases. 16, 1, 158.Research output: Contribution to journal › Review article › peer-review
Open Access -
Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis
Webb, B. D., Hotchkiss, H., Prasun, P., Gelb, B. D. & Satlin, L., Oct 2021, In: European Journal of Human Genetics. 29, 10, p. 1566-1569 4 p.Research output: Contribution to journal › Article › peer-review
Open Access7 Scopus citations -
Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies
and the Moebius Syndrome Research Consortium, Apr 2021, In: Muscle and Nerve. 63, 4, p. 516-524 9 p.Research output: Contribution to journal › Article › peer-review
2 Scopus citations
Press/Media
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-University of Barcelona: Opitz C Syndrome: new advances to improve the genetic diagnose of an ultra-rare disease
Daniel Grinberg & Bryn Webb
5/04/19
1 item of Media coverage
Press/Media
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Opitz C Syndrome: new advances to improve the genetic diagnose of an ultra-rare disease
Bryn Webb & Daniel Grinberg
4/04/19
3 items of Media coverage
Press/Media
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Mount Sinai's Icahn School of Medicine Cited for Commitment to Mitochondrial Care
10/11/18
1 item of Media coverage
Press/Media