Ian R. Berry - Publications

Uncovering apparent incomplete penetrance of TSC1/TSC2 variants: Insights from multiple population cohorts and implications for newborn screening.

Journal: European journal of human genetics : EJHG

Published: January 31, 2026

The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing.

Journal: Journal of medical genetics

Published: January 22, 2026

Case Report: A simple case of drug-induced secondary antibody deficiency or a rare primary immune deficiency?

Journal: Frontiers in immunology

Published: May 16, 2025

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome.

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

Published: January 27, 2025

Infantile Cerebellar-Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model.

Journal: Clinical genetics

Published: January 02, 2025

A novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Published: October 28, 2024

Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access.

Journal: Journal of medical genetics

Published: July 09, 2024

Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders.

Journal: Nature medicine

Published: April 11, 2024

Whole genome sequencing for copy number variant detection to improve diagnosis and management of rare diseases.

Journal: Developmental medicine and child neurology

Published: February 26, 2024

Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: October 01, 2023

Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans.

Journal: Human molecular genetics

Published: October 04, 2021

Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK).

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

Published: September 20, 2021