Geoffrey J. Maher

The adult human testis transcriptional cell atlas

Jingtao Guo, Edward J. Grow, Hana Mlčochová et al. · Cell Research · 2018 · 739 citations · Full text

Chromatin and Single-Cell RNA-Seq Profiling Reveal Dynamic Signaling and Metabolic Transitions during Human Spermatogonial Stem Cell Development

Jingtao Guo, Edward J. Grow, Chongil Yi et al. · Cell stem cell · 2017 · 300 citations · Full text

Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa

Alice E. Davidson, I. D. Millar, Jill Urquhart et al. · The American Journal of Human Genetics · 2009 · 180 citations · Full text

Missense Mutations, Ocular Disease, Retina +6

Contributions of intrinsic mutation rate and selfish selection to levels of de novo <i>HRAS</i> mutations in the paternal germline

Eleni Giannoulatou, Gil McVean, Indira B. Taylor et al. · Proceedings of the National Academy of Sciences · 2013 · 84 citations · Full text

CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat

Nathaniel J. Hafford‐Tear, Yu‐Chih Tsai, Amanda N. Sadan et al. · Genetics in Medicine · 2019 · 83 citations · Full text