Austin Larson

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

Jin‐Kuk Kim, Chunguang Hu, Christelle Moufawad El Achkar et al. · New England Journal of Medicine · 2019 · 772 citations · Full text

Genetic Diseases, Neurodegenerative Diseases, Miracle Foundation +13

Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Michael F. Wangler, Claudia Gonzaga‐Jauregui, Tomasz Gambin et al. · PLoS Genetics · 2014 · 140 citations · Full text

Genetics, Pathology, Gene Discovery +23

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Elena‐Raluca Nicoli, Mary Weston, Mary E. Hackbarth et al. · The American Journal of Human Genetics · 2019 · 93 citations · Full text

Cell Division, Biochemistry, Lysosomal Acidification +9

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

F.‐Nora Vögtle, Björn Brändl, Austin Larson et al. · The American Journal of Human Genetics · 2018 · 89 citations · Full text

Neurodegenerative Diseases, Mitochondrial Function, Biochemistry +9

Mitochondrial diseases in North America

Emanuele Barca, Yuelin Long, Victoria Cooley et al. · Neurology Genetics · 2020 · 72 citations · Full text