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Office
9300 Valley Childrens Pl
# GE21
Madera, CA 93636Phone+1 559-353-6400Fax+1 559-353-7213
Education & Training
University of California (San Diego) Medical CenterResidency, Medical Genetics and Genomics, 2012 - 2014- University of California (San Diego) Medical CenterResidency, Pediatrics, 2008 - 2012
Tufts University School of MedicineClass of 2008
Certifications & Licensure
CA State Medical License 2010 - 2025- American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 69 citationsPrecision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.Ying-Chen Claire Hou, Hung-Chun Yu, Richard J. Martin, Elizabeth T. Cirulli, Natalie M. Schenker-Ahmed
Proceedings of the National Academy of Sciences of the United States of America. 2020-01-24 - 6 citationsA DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.Susan M. White, Elizabeth J. Bhoj, Christoffer Nellåker, Augusta M. A. Lachmeijer, Aren E Marshall
American Journal of Human Genetics. 2021-04-01 - 12 citationsRapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis.Amber Hildreth, Kristen Wigby, Shimul Chowdhury, Shareef Nahas, Jaime Barea
Cold Spring Harbor Molecular Case Studies. 2017-09-01
Press Mentions
Where Is Precision Medicine Headed?July 19th, 2017
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