R. Mark Gardiner

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis

Sandra Strautnieks, Laura N. Bull, Alexander S. Knisely et al. · Nature Genetics · 1998 · 993 citations

Hepatology, Biliary Tract, Natural Sciences +11

SCN9A Mutations in Paroxysmal Extreme Pain Disorder: Allelic Variants Underlie Distinct Channel Defects and Phenotypes

Caroline Fertleman, Mark D. Baker, Keith A. Parker et al. · Neuron · 2006 · 745 citations · Full text

Allelic Variant, Molecular Neuroscience, Genetic Disorder +7

Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome

Patricia B. Munroe, Rana Olguntürk, Jean‐Pierre Fryns et al. · Nature Genetics · 1999 · 383 citations

Autoimmune Disease, Genetic Disorder, Genetics +6

Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities

Victoria Castleman, Leila Romio, Rahul Chodhari et al. · The American Journal of Human Genetics · 2009 · 341 citations · Full text

Developmental Biology, Genetics, Pathology +4

Ducky Mouse Phenotype of Epilepsy and Ataxia Is Associated with Mutations in the<i>Cacna2d2</i>Gene and Decreased Calcium Channel Current in Cerebellar Purkinje Cells

J. Elaine Barclay, Nuria Balaguero, Marina Mione et al. · Journal of Neuroscience · 2001 · 324 citations · Full text