Joanne Dixon

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

Weibin Zhou, Edgar A. Otto, Andrew Cluckey et al. · Nature Genetics · 2012 · 244 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Mutations in NOTCH1 Cause Adams-Oliver Syndrome

Anna‐Barbara Stittrich, Anna Lehman, Dale L. Bodian et al. · The American Journal of Human Genetics · 2014 · 190 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

De novo mutations in the mitochondrial <i>ND3</i> gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

Robert McFarland, Denise M. Kirby, Kerry J. Fowler et al. · Annals of Neurology · 2003 · 181 citations

Life Sciences, Genetics, Molecular Genetics +17

Bio-social origins of depression in the community

Paul Strickland, J.F.W. Deakin, Carol Percival et al. · The British Journal of Psychiatry · 2002 · 170 citations · Full text

Medicine, Psychiatry, Psychology +17

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

Matthew Bower, Rémi Salomon, Judith Allanson et al. · Human Mutation · 2011 · 155 citations · Full text

Medicine, Genetics, Ophthalmology +17