Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

Nara Sobreira, François Schiettecatte, David Valle et al. · Human Mutation · 2015 · 1.6K citations · Full text

Life Sciences, Bioinformatics, Genetics +15

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Jennifer E. Posey, Tamar Harel, Pengfei Liu et al. · New England Journal of Medicine · 2016 · 775 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance

Max A. Tischfield, Hagit Baris, Chen Wu et al. · Cell · 2010 · 602 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +14

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

Menachem Fromer, Jennifer L. Moran, Kimberly Chambert et al. · The American Journal of Human Genetics · 2012 · 597 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

Anthony Antonellis, Rachel E. Ellsworth, Nyamkhishig Sambuughin et al. · The American Journal of Human Genetics · 2003 · 566 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11