Julia Platt

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Gregory M. Enns, Vandana Shashi, Matthew N. Bainbridge et al. · Genetics in Medicine · 2014 · 240 citations · Full text

Life Sciences, Genetics, Molecular Biology +8

Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans

Fuyun Ji, Mark S. Sharpley, Olga Derbeneva et al. · Proceedings of the National Academy of Sciences · 2012 · 144 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Variant Interpretation for Dilated Cardiomyopathy

Ana Morales, Daniel D. Kinnamon, Elizabeth Jordan et al. · Circulation Genomic and Precision Medicine · 2020 · 117 citations · Full text

Life Sciences, Cardiology, Genetics +15

Genotype–phenotype studies of <scp>VCP</scp>‐associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia

SG Mehta, Manaswitha Khare, R. Ramani et al. · Clinical Genetics · 2012 · 112 citations

Medicine, Genetics, Neurology +17

Clinical whole-exome sequencing: are we there yet?

Paldeep S. Atwal, Marie-Louise Brennan, Rachel Cox et al. · Genetics in Medicine · 2014 · 67 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11