Austin Larson
University of Colorado Anschutz Medical Campus(US)University of Colorado Denver(US)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease(2019)784 cited
- → Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome(2014)141 cited
- → Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification(2019)94 cited
- → Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood(2018)89 cited
- → Mitochondrial diseases in North America(2020)73 cited
- → TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy(2018)60 cited