F. Lucy Raymond

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Patrick Tarpey, Raffaella Smith, Erin Pleasance et al. · Nature Genetics · 2009 · 613 citations · Full text

Chromatin, Psychiatry, Genetic Disorder +11

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss, Gavin Arno, Marie Erwood et al. · The American Journal of Human Genetics · 2016 · 463 citations · Full text

Whole-genome Sequencing, Allelic Variant, Genetic Disorder +11

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

Egor Dolzhenko, Viraj Deshpande, Felix Schlesinger et al. · Bioinformatics · 2019 · 367 citations · Full text

The UK10K project identifies rare variants in health and disease

Klaudia Walter, Josine L. Min, Jie Huang et al. · Kölner Universitäts PublikationsServer (Universität zu Köln) · 2015 · 299 citations · Full text

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

Patrick Tarpey, F. Lucy Raymond, Lam Son Nguyen et al. · Nature Genetics · 2007 · 284 citations · Full text

Developmental Biology, Genetic Disorder, Genetics +7