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Paul Q. Thomas | doi.page

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Paul Q. Thomas

South Australian Health and Medical Research Institute(AU)The University of Adelaide(AU)

Publications by Year

Research Areas

Pluripotent Stem Cells Research, Growth Hormone and Insulin-like Growth Factors, Epilepsy research and treatment, Congenital heart defects research, Parkinson's Disease Mechanisms and Treatments

Most-Cited Works

→ Hex: a homeobox gene revealing peri-implantation asymmetry in the mouse embryo and an early transient marker of endothelial cell precursors(1998)526 cited
→ The homeobox gene Hex is required in definitive endodermal tissues for normal forebrain, liver and thyroid formation(2000)473 cited
→ X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment(2008)444 cited
→ Mutations in DEPDC5 cause familial focal epilepsy with variable foci(2013)359 cited
→ Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia(2001)319 cited
→ GDNF Is a Chemoattractant for Enteric Neural Cells(2001)318 cited
→

PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

(2012)

258 cited

→ Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy(2015)232 cited

→ Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation(2003)140 cited

→ Developmental regulation of Notch signaling genes in the embryonic pituitary: Prop1 deficiency affects Notch2 expression(2003)122 cited