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Austin Larson

Physician · University of Colorado School of Medicine

Credentials: · · · · ·

History

University of Colorado School of Medicine
Present

Pediatrics
University of Colorado School of Medicine
2010–2013
Warren Alpert Medical School of Brown University
2006–2010

Research

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
Case report · New England Journal of Medicine · 2019 · 642 citations
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome
PLoS Genetics · 2014 · 105 citations
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification
The American Journal of Human Genetics · 2019 · 87 citations

JH
Johan Van Hove
19 papers
Fernando Scaglia
12 papers
KK
Kimberly Kripps
9 papers · 5 as a fellow
Andrew Edmondson
8 papers
Christina Lam
8 papers
Michio Hirano
8 papers
Gregory Enns
7 papers
Peter Baker
7 papers
Wendy Chung
7 papers
AK
Amel Karaa
6 papers
Amy Goldstein
6 papers
Emily Shelkowitz
6 papers · 3 as a resident

Clinical trials

Prospective Natural History Study of POLG Disease
Site PI · Recruiting
The POLG Foundation
2026–2031
Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
Site PI · Recruiting
Icahn School of Medicine at Mount Sinai
2019–2030