Kit Doudney

The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia

Claire Braybrook, Kit Doudney, Ana Carolina B. Marçano et al. · Nature Genetics · 2001 · 263 citations

Developmental Biology, Genetics, X-linked Cleft Palate +5

Mutations in the planar cell polarity genes<i>CELSR1</i>and<i>SCRIB</i>are associated with the severe neural tube defect craniorachischisis

Alexis Robinson, Sarah Escuin, Kit Doudney et al. · Human Mutation · 2011 · 194 citations · Full text

Craniofacial Disorder, Genetics, Molecular Genetics +21

TBX22 Missense Mutations Found in Patients with X-Linked Cleft Palate Affect DNA Binding, Sumoylation, and Transcriptional Repression

Artemisia M. Andreou, Erwin Pauws, Marius C. Jones et al. · The American Journal of Human Genetics · 2007 · 89 citations · Full text

Mendelian Disorder, Genetic Disorder, Natural Sciences +6

The Friedreich's ataxia gene encodes a novel phosphatidylinositol–4–phosphate 5–kinase

Jaime J. Carvajal, Mark A. Pook, Maria dos Remédios Magalhães Santos et al. · Nature Genetics · 1996 · 73 citations

Protein Function, Signal Transduction, Natural Sciences +6

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2

Hannah Kennedy, Tobias B. Haack, Verity Hartill et al. · The American Journal of Human Genetics · 2016 · 68 citations · Full text