Peter D. Turnpenny

Gladstone Rd
Exeter, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 81 publications

Beyond congenital anomalies, the impact of sodium valproate exposure in utero on long-term health and well-being: A contribution from the ConcePTION project.

Beyond congenital anomalies, the impact of sodium valproate exposure in utero on long-term health and well-being: A contribution from the ConcePTION project.

Journal: Epilepsia

Published: December 15, 2025

Counseling patients in the predictive genetics clinic for Huntington's disease: A qualitative analysis of ethnographic observations.

Counseling patients in the predictive genetics clinic for Huntington's disease: A qualitative analysis of ethnographic observations.

Journal: Journal of genetic counseling

Published: October 10, 2025

STAG2-truncating variants reveal a mosaic STAG2 inactivation pattern and compensatory mechanisms involving cohesin complex remodeling.

STAG2-truncating variants reveal a mosaic STAG2 inactivation pattern and compensatory mechanisms involving cohesin complex remodeling.

Journal: iScience

Published: February 06, 2025

The European Certificate in Medical Genetics and Genomics (ECMGG).

The European Certificate in Medical Genetics and Genomics (ECMGG).

Journal: European journal of human genetics : EJHG

Published: December 31, 2024

European training requirements for the specialty of medical genetics.

European training requirements for the specialty of medical genetics.

Journal: European journal of human genetics : EJHG

Published: December 22, 2024

Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.

Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.

Journal: American journal of human genetics

Published: August 14, 2024

Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait macules.

Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait macules.

Journal: Skin health and disease

Published: December 06, 2023

TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine.

TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine.

Journal: American journal of medical genetics. Part A

Published: October 11, 2023

Neurodevelopmental outcomes in children and adults with Fetal Valproate Spectrum Disorder: A contribution from the ConcePTION project.

Neurodevelopmental outcomes in children and adults with Fetal Valproate Spectrum Disorder: A contribution from the ConcePTION project.

Journal: Neurotoxicology and teratology

Published: April 12, 2023

Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.

Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 21, 2022

Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.

Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.

Journal: American journal of human genetics

Published: August 04, 2022

SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.

SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.

Journal: Brain : a journal of neurology

Published: April 08, 2022

Showing 1-12 of 81

Last Updated: 09/26/2026