A Seller

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

Roddy Walsh, Kate Thomson, James S. Ware et al. · Genetics in Medicine · 2016 · 744 citations · Full text

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

Stefano Colella, Christopher Yau, Jennifer M. Taylor et al. · Nucleic Acids Research · 2007 · 617 citations · Full text

Clinical and Molecular Genetic Analysis of 19 Wolfram Syndrome Kindreds Demonstrating a Wide Spectrum of Mutations in WFS1

Carol Hardy, Farhat L. Khanim, Rosarelis Torres et al. · The American Journal of Human Genetics · 1999 · 216 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +9

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

Andrea H. Németh, Alexandra Kwasniewska, Stefano Lise et al. · Brain · 2013 · 171 citations · Full text

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

Morag Shanks, Susan M. Downes, Richard R. Copley et al. · European Journal of Human Genetics · 2012 · 137 citations · Full text

Ocular Disease, Sequencing, Retina +9