Penny Clouston

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 · 627 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

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 · 138 citations · Full text

Medicine, Neurology, Ophthalmology +11

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

Meriel McEntagart, Kathleen A. Williamson, Jacqueline K. Rainger et al. · The American Journal of Human Genetics · 2016 · 104 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

Lauren M. Watson, Elizabeth Bamber, Ricardo Parolin Schnekenberg et al. · The American Journal of Human Genetics · 2017 · 88 citations · Full text

Life Sciences, Neurology, Neuroscience +17

Clinical and Molecular Characterization of<i>PROM1</i>-Related Retinal Degeneration

Jasmina Cehajic‐Kapetanovic, Johannes Birtel, Michelle E. McClements et al. · JAMA Network Open · 2019 · 80 citations · Full text

Medicine, Molecular Genetics, Ophthalmology +17