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Office
300 Longwood Avenue
Boston, MA 02115Phone+1 617-355-6000
Education & Training
- University of Michigan Medical SchoolClass of 2017
Certifications & Licensure
- MA State Medical License 2017 - 2025
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders.Eva Berger, Robin-Tobias Jauss, Judith D Ranells, Emir Zonic, Lydia von Wintzingerode
Genetics in Medicine. 2024-11-11 - 1 citationsDe novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.Tamar Harel, Camille Spicher, Elisabeth Scheer, Jillian G Buchan, Jennifer Cech
Brain. 2024-08-01 - 2 citationsVariants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.James L Shepherdson, Katie Hutchison, Dilan Wellalage Don, George McGillivray, Tae-Ik Choi
American Journal of Human Genetics. 2024-03-07
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