Amy K. Robertson

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Rachel Ramoni, John J. Mulvihill, David R. Adams et al. · The American Journal of Human Genetics · 2017 · 188 citations · Full text

Public Health, Biomedical Informatics, Health Informatics +13

IRF2BPL Is Associated with Neurological Phenotypes

Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann et al. · The American Journal of Human Genetics · 2018 · 115 citations · Full text

Life Sciences, Genetics, Neuroscience +10

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Monika Oláhová, Wan Hee Yoon, Kyle Thompson et al. · The American Journal of Human Genetics · 2018 · 107 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Limitations of exome sequencing in detecting rare and undiagnosed diseases

Kendall J. Burdick, Joy D. Cogan, Lynette Rives et al. · American Journal of Medical Genetics Part A · 2020 · 105 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 97 citations · Full text

Life Sciences, Biochemistry, Cell Biology +12