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Office
1500 Highland Ave
Madison, WI 53705Phone+1 608-263-3301
Education & Training
- Icahn School of Medicine at Mount SinaiResidency, Pediatrics/Medical Genetics and Genomics, 2007 - 2012
- University of Texas Southwestern Medical SchoolClass of 2007
Certifications & Licensure
- NY State Medical License 2009 - 2026
- WI State Medical License 2021 - 2025
- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
- American Board of Medical Genetics and Genomics Clinical Molecular Genetics and Genomics
Publications & Presentations
PubMed
- 65 citationsA defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.Di Gioia Sa, Connors S, Nori Matsunami, Jessica Cannavino, Matthew F. Rose
Nature Communications. 2017-07-06 - 38 citationsDeficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophySimon Edvardson, Jae Kyo Yi, Chaim Jalas, Ruijuan Xu, Bryn D. Webb
Journal of Medical Genetics. 2016-01-20 - 10 citationsBiallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis.Bryn D. Webb, Hilary Hotchkiss, Pankaj Prasun, Bruce D. Gelb, Lisa M. Satlin
European Journal of Human Genetics. 2021-04-12
Press Mentions
- Mount Sinai Recognized for Excellence in Mitochondrial CareOctober 29th, 2018
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