Susan E. Tomkins

Bristol, ENG BS28HW, United Kingdom

Last Updated: 09/26/2026

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Found 16 publications

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.

Journal: American journal of human genetics

Published: February 10, 2019

De novo variants in CNOT3 cause a variable neurodevelopmental disorder.

De novo variants in CNOT3 cause a variable neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: June 13, 2018

Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

Journal: Journal of medical genetics

Published: October 23, 2017

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.

Journal: American journal of human genetics

Published: October 04, 2017

Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.

Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.

Journal: The Journal of clinical endocrinology and metabolism

Published: March 03, 2017

Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls.

Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls.

Journal: Familial cancer

Published: January 17, 2017

Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.

Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.

Journal: Journal of medical genetics

Published: October 07, 2016

Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.

Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.

Journal: European journal of medical genetics

Published: August 15, 2016

Detection of structural mosaicism from targeted and whole-genome sequencing data.

Detection of structural mosaicism from targeted and whole-genome sequencing data.

Journal: Genome research

Published: July 07, 2016

Sharp truth: health care workers remain at risk of bloodborne infection.

Sharp truth: health care workers remain at risk of bloodborne infection.

Journal: Occupational medicine (Oxford, England)

Published: February 10, 2015

Universal treatment success among healthcare workers diagnosed with occupationally acquired acute hepatitis C.

Universal treatment success among healthcare workers diagnosed with occupationally acquired acute hepatitis C.

Journal: The Journal of hospital infection

Published: April 30, 2014

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.

Journal: Nature genetics

Published: September 04, 2012

Showing 1-12 of 16

Last Updated: 09/26/2026