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JP

Julia Platt

Manager, CVH Genetic Counseling, Stanford Health Care · Stanford Health Care

Credentials: ·

History

Stanford Health Care
Present

Research

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway
Case report · Genetics in Medicine · 2014 · 186 citations
Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans
Proceedings of the National Academy of Sciences of the United States of America · 2012 · 122 citations
Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia
Clinical Genetics · 2013 · 94 citations

Gregory Enns
6 papers
CC
Colleen Caleshu
4 papers
Chloe Reuter
3 papers
Jonathan Bernstein
3 papers
Euan Ashley
2 papers
Kara Motonaga
2 papers
Matthew Wheeler
2 papers
MZ
Michael Zaragoza
2 papers
Mitchel Pariani
2 papers
TM
Tia Moscarello
2 papers
Wendy Chung
2 papers
Adam Buchanan
1 paper