Helen K. Brittain
Birmingham, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 19 publications
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.
Journal: Nature genetics
Published: September 02, 2025
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Journal: American journal of human genetics
Published: March 18, 2024
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project.
Journal: Human genetics
Published: October 03, 2022
ERF-related craniosynostosis and surgical management in the paediatric cohort.
Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: August 07, 2022
The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 10, 2022
A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 22, 2022
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
Journal: The New England journal of medicine
Published: November 10, 2021
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
Journal: Journal of medical genetics
Published: July 01, 2021
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.
Journal: American journal of human genetics
Published: April 26, 2021
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 12, 2021
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.
Journal: Nature genetics
Published: November 03, 2019
Biallelic human ITCH variants causing a multisystem disease with dysmorphic features: A second report.
Journal: American journal of medical genetics. Part A
Published: October 19, 2018
Last Updated: 09/26/2026