Richard Quinton

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

The Codon 620 Tryptophan Allele of the Lymphoid Tyrosine Phosphatase (LYP) Gene Is a Major Determinant of Graves’ Disease

Marija Velaga, Valerie Wilson, Claire Jennings et al. · The Journal of Clinical Endocrinology & Metabolism · 2004 · 461 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Reversal of Idiopathic Hypogonadotropic Hypogonadism

Taneli Raivio, John Falardeau, Andrew Dwyer et al. · New England Journal of Medicine · 2007 · 411 citations · Full text

Medicine, Endocrinology, Infertility +13

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

John Falardeau, W. C. Chung, Andrew Beenken et al. · Journal of Clinical Investigation · 2008 · 393 citations · Full text

Medicine, Endocrinology, Genetics +17

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

Nelly Pitteloud, Richard Quinton, Simon H. S. Pearce et al. · Journal of Clinical Investigation · 2007 · 378 citations · Full text

Life Sciences, Endocrinology, Genetics +17