F. Lucy Raymond

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

A K Ryan, Judith A. Goodship, David I. Wilson et al. · Journal of Medical Genetics · 1997 · 1.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

The UK10K project identifies rare variants in health and disease

Josine L. Min, Jie Huang, Yasin Memari et al. · Nature · 2015 · 1.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 617 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Whole-genome sequencing of patients with rare diseases in a national health system

Ernest Turro, Karyn Mégy, Olga Shamardina et al. · Nature · 2020 · 582 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Hyperphagia, Severe Obesity, Impaired Cognitive Function, and Hyperactivity Associated With Functional Loss of One Copy of the Brain-Derived Neurotrophic Factor (<i>BDNF</i>) Gene

Juliette Gray, Giles S.H. Yeo, James J. Cox et al. · Diabetes · 2006 · 512 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17