Paul Thomas

The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice.

Stefan Bagheri-Fam, Huijun Chen, Sean Wilson, Katie Ayers, James Hughes, Frederique Sloan-Bena, Pierre Calvel, Gorjana Robevska, Beatriz Puisac, Kamila Kusz-Zamelczyk, Stefania Gimelli, Anna Spik, Jadwiga Jaruzelska, Alina Warenik-Szymankiewicz, Sultana Faradz, Serge Nef, Juan Pié, Paul Thomas, Andrew Sinclair, Dagmar Wilhelm

Journal article  |  2020  |  PLoS One

Disorders/differences of sex development (DSD) cause profound psychological and reproductive consequences for the affected individ..

Paroxysmal and cognitive phenotypes in Prrt2 mutant mice.

Louise Robertson, Travis Featherby, Stuart Howell, James Hughes, Paul Thomas

Journal article  |  2019  |  Genes Brain & Behavior

Mutations in proline-rich transmembrane protein 2 (PRRT2) cause a range of episodic disorders that include paroxysmal kinesigenic ..

Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy

Daniel T Pederick, Kay L Richards, Sandra G Piltz, Raman Kumar, Stefka Mincheva-Tasheva, Simone A Mandelstam, Russell C Dale, Ingrid E Scheffer, Jozef Gecz, Steven Petrou, James N Hughes, Paul Q Thomas

Journal article  |  2018  |  Neuron

Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice

Daniel T Pederick, Claire C Homan, Emily J Jaehne, Sandra G Piltz, Bryan P Haines, Bernhard T Baune, Lachlan A Jolly, James N Hughes, Jozef Gecz, Paul Q Thomas

Journal article  |  2016  |  Scientific Reports

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

Sarah E Heron, Bronwyn E Grinton, Sara Kivity, Zaid Afawi, Sameer M Zuberi, James N Hughes, Clair Pridmore, Bree L Hodgson, Xenia Iona, Lynette G Sadleir, James Pelekanos, Eric Herlenius, Hadassa Goldberg-Stern, Haim Bassan, Eric Haan, Amos D Korczyn, Alison E Gardner, Mark A Corbett, Jozef Gecz, Paul Q Thomas, et al.

Journal article  |  2012  |  AMERICAN JOURNAL OF HUMAN GENETICS

Deep sequencing analysis of the developing mouse brain reveals a novel microRNA

King-Hwa Ling, Peter J Brautigan, Christopher N Hahn, Tasman Daish, John R Rayner, Pike-See Cheah, Joy M Raison, Sandra Piltz, Jeffrey R Mann, Deidre M Mattiske, Paul Q Thomas, David L Adelson, Hamish S Scott

Journal article  |  2011  |  BMC Genomics

Persistent expression of Notch2 delays gonadotrope differentiation

Lori T Raetzman, Bayly S Wheeler, Shelley A Ross, Paul Q Thomas, Sally A Camper

Journal article  |  2006  |  Molecular Endocrinology

Identification and enrichment of colony-forming cells from the adult murine pituitary

DA Lepore, K Roeszler, J Wagner, SA Ross, K Bauer, PQ Thomas

Journal article  |  2005  |  Experimental Cell Research

Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD)

JPG Turton, A Mehta, J Raza, KS Woods, A Tiulpakov, J Cassar, K Chong, PQ Thomas, M Eunice, AC Ammini, PM Bouloux, J Starzyk, PC Hindmarsh, MT Dattani

Journal article  |  2005  |  Clinical Endocrinology

Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism

KS Woods, M Cundall, J Turton, K Rizotti, A Mehta, R Palmer, J Wong, WK Chong, M Al-Zyoud, M El-Ali, T Otonkoski, JP Martinez-Barbera, PQ Thomas, IC Robinson, R Lovell-Badge, KJ Woodward, MT Dattani

Journal article  |  2005  |  American Journal of Human Genetics