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Office
75 Francis St
Boston, MA 02115Phone+1 617-732-5802
Education & Training
Semmelweis UniversityClass of 2005
Certifications & Licensure
MA State Medical License 2021 - 2026
Publications & Presentations
PubMed
- 118 citationsWhole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.Amelie T. van der Ven, Dervla M. Connaughton, Hadas Ityel, Nina Mann, Makiko Nakayama
Journal of the American Society of Nephrology. 2018-09-01 - 18 citationsDAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.Ronen Schneider, Konstantin Deutsch, Gregory J. Hoeprich, Jonathan Marquez, Tobias Hermle
American Journal of Human Genetics. 2020-12-03 - 15 citationsDe novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosisPatricia L. Weng, Amar J. Majmundar, Kamal Khan, Tze Y Lim, Shirlee Shril
American Journal of Human Genetics. 2021-02-04
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