Jane A. Hurst

Congenital leptin deficiency is associated with severe early-onset obesity in humans

I. Sadaf Farooqi, Jonathan P. Whitehead, Maria A. Soos et al. · Nature · 1997 · 2.9K citations · Full text

Obesity, Metabolic Syndrome, Nutrition +10

A forkhead-domain gene is mutated in a severe speech and language disorder

Cecilia Lai, Simon E. Fisher, Jane A. Hurst et al. · Nature · 2001 · 2.1K citations · Full text

Developmental Biology, Language Disorder, Severe Speech +13

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Lisenka E.L.M. Vissers, Conny M.A. van Ravenswaaij, R.J.C. Admiraal et al. · Nature Genetics · 2004 · 1.3K citations · Full text

Chromatin, Genetic Disorder, Genetics +6

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Sebastian Köhler, Sandra C. Doelken, Chris Mungall et al. · Nucleic Acids Research · 2013 · 834 citations · Full text

Engineering, Genetics, Updated Hpo Database +19

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

Andrew J. Sharp, S.K. Hansen, Rebecca R. Selzer et al. · Nature Genetics · 2006 · 663 citations

Mendelian Disorder, Genetic Disorder, Unidentified Genomic Disorders +11