Tom Strachan

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

Anavaj Sakuntabhai, Víctor L. Ruiz‐Pérez, Simon Carter et al. · Nature Genetics · 1999 · 727 citations

Signal Transduction, Genetic Disorder, Genetics +6

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

Mayada Tassabehji, Andrew Read, Valerie Newton et al. · Nature · 1992 · 694 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +10

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

Rumaisa Bashir, S. Britton, Tom Strachan et al. · Nature Genetics · 1998 · 679 citations

Spermatogenesis, Developmental Biology, Genetic Disorder +10

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

Edgar A. Otto, Bernhard Schermer, Tomoko Obara et al. · Nature Genetics · 2003 · 641 citations · Full text

Pathogenesis, Immunology, Iga Glomerulonephritis +6

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

Emma Tonkin, Tzu-Jou Wang, Steven Lisgo et al. · Nature Genetics · 2004 · 594 citations · Full text

Genome Instability, Cell Division, Genetic Disorder +7