Neal Sondheimer

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Anath C. Lionel, Gregory Costain, Nasim Monfared et al. · Genetics in Medicine · 2017 · 551 citations · Full text

Polyglutamine aggregates alter protein folding homeostasis in <i>Caenorhabditis elegans</i>

Sanjeev Satyal, Enrico Schmidt, Kazunori Kitagawa et al. · Proceedings of the National Academy of Sciences · 2000 · 366 citations

Genomic architecture of autism from comprehensive whole-genome sequence annotation

Brett Trost, Bhooma Thiruvahindrapuram, Ada J. S. Chan et al. · Cell · 2022 · 258 citations · Full text

Functional Genomics, Syndromic Autism, Genetics +6

The role of Sis1 in the maintenance of the [RNQ+] prion

Neal Sondheimer · The EMBO Journal · 2001 · 201 citations · Full text

Genetics, Molecular Biology, Prion Disease

Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy

Xiaowu Gai, Daniele Ghezzi, Mark Johnson et al. · The American Journal of Human Genetics · 2013 · 176 citations · Full text

Mitochondrial Myopathy, Mitophagy, Mendelian Disorder +14