Simon T. Holden - Publications

From kidney to eye: The devastating consequences of delayed diagnosis.

Journal: Urology case reports

Published: January 14, 2026

Evaluation of the NHS R67 Monogenic Hearing Loss Panel in a Single UK Centre.

Journal: Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery

Published: November 09, 2025

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: October 19, 2025

Familial pneumothorax in twins with Tatton-Brown-Rahman DNMT3A overgrowth syndrome.

Journal: European journal of human genetics : EJHG

Published: September 26, 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

Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.

Journal: Human mutation

Published: May 25, 2024

Secondary spontaneous pneumothorax as the presenting manifestation of filamin A-associated lung disease.

Journal: ERJ open research

Published: March 31, 2024

Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.

Journal: Journal of medical genetics

Published: March 12, 2023

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: November 23, 2022

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.

Journal: HGG advances

Published: October 04, 2022

First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.

Journal: American journal of respiratory and critical care medicine

Published: July 19, 2022

Are the UK genetic testing criteria for dementia too exclusive?

Journal: Journal of neurology

Published: September 14, 2021