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Office
4401 Penn Ave
# Faculty
Pittsburgh, PA 15224Phone+1 412-692-5194
Education & Training
Icahn School of Medicine at Mount SinaiResidency, Medical Genetics and Genomics, 2013 - 2015
NYU Grossman School of MedicineResidency, Pediatrics, 2010 - 2013
Rutgers Robert Wood Johnson Medical SchoolClass of 2010
Certifications & Licensure
PA State Medical License 2015 - 2024
NY State Medical License 2012 - 2016- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 15 citationsBiallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathyNajim Lahrouchi, Alex V. Postma, Christian M. Salazar, Daniel M. de Laughter, Fleur V.Y. Tjong
The Journal of Clinical Investigation. 2021-03-01 - 42 citationsIRF2BPL Is Associated with Neurological Phenotypes.Paul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, Nicholas Stong, Jill A Rosenfeld
American Journal of Human Genetics. 2018-09-06 - 40 citationsLong-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study.Ulla Feldt-Rasmussen, Derralynn Hughes, Gere Sunder-Plassmann, Suma P. Shankar, Khan Nedd
Molecular Genetics and Metabolism. 2020-09-01
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