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Office
101 Nicolls Rd
Boston, MA 11794Phone+1 617-726-2865
Education & Training
- Brigham and Women's Hospital/Massachusetts General Hospital/Harvard Medical SchoolFellowship, Neuromuscular Medicine (Neurology), 2018 - 2019
- Brigham and Women's Hospital/Massachusetts General Hospital/Harvard Medical SchoolResidency, Neurology, 2015 - 2018
- Harvard Medical SchoolClass of 2014
Certifications & Licensure
- MA State Medical License 2019 - 2025
- American Board of Psychiatry and Neurology Neurology
Publications & Presentations
PubMed
- Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets.Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh
Genetics in Medicine. 2024-12-09 - Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy.Johnnie Turner, Christine C Bruels, Audrey L Daugherty, Elicia A Estrella, Seth Stafki
Muscle & Nerve. 2024-10-01 - 1 citationsProtein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.Johanna Ranta-Aho, Kevin J Felice, Per Harald Jonson, Jaakko Sarparanta, Cédric Yvorel
Annals of Clinical and Translational Neurology. 2024-09-01
Press Mentions
- Neurodevelopmental Role for lncRNA Confirmed in Humans, May Influence Autism, EpilepsyOctober 23rd, 2024
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