St. Luke's Hospital

An SCN9A channelopathy causes congenital inability to experience pain

James J. Cox, Frank Reimann, Adeline K. Nicholas et al. · Nature · 2006 · 1.6K citations · Full text

Channelopathies, Pain Syndrome, Pain Medicine +4

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

David P. Kelsell, John Dunlop, Howard P. Stevens et al. · Nature · 1997 · 1.5K citations

Mendelian Disorder, Developmental Biology, Genetic Disorder +2

Randomised trial of irinotecan plus supportive care versus supportive care alone after fluorouracil failure for patients with metastatic colorectal cancer

David Cunningham, Seppo Pyrhönen, R.D. James et al. · The Lancet · 1998 · 1.3K citations

Gastrointestinal Oncology, Medicine, Cancer Management +6

Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes

Anna L. Gloyn, Ewan R. Pearson, Jennifer F. Antcliff et al. · New England Journal of Medicine · 2004 · 1.1K citations

Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

Yanick J. Crow, Bruce E. Hayward, Rekha Parmar et al. · Nature Genetics · 2006 · 876 citations

Ags1 Locus, Mendelian Disorder, Genetic Disorder +11