Jane A. Hurst

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

Carl Montague, I. Sadaf Farooqi, Jonathan P. Whitehead et al. · Nature · 1997 · 2.9K citations · Full text

Medicine, Endocrinology, Pediatrics +11

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

Life Sciences, Genetics, Molecular Genetics +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

Life Sciences, Genetics, Molecular Genetics +4

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 · 837 citations · Full text

Medicine, Biomedical Informatics, Pathology +14

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 674 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14