Verity L. Hartill

Leeds, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 23 publications

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

Journal: medRxiv : the preprint server for health sciences
Published: February 06, 2026

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

Journal: European journal of human genetics : EJHG
Published: February 02, 2026

RNF2 Missense Variants Disrupt Polycomb Repression and Enable Ectopic Mesenchymal Lineage Conversion During Human Neural Differentiation.

RNF2 Missense Variants Disrupt Polycomb Repression and Enable Ectopic Mesenchymal Lineage Conversion During Human Neural Differentiation.

Journal: Research square
Published: August 20, 2025

Multicentre audit reviewing reporting and management of patients with incidentally identified structural aberrations involving high actionability cancer susceptibility genes.

Multicentre audit reviewing reporting and management of patients with incidentally identified structural aberrations involving high actionability cancer susceptibility genes.

Journal: Journal of medical genetics
Published: March 31, 2025

Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B.

Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: December 29, 2024

A machine learning classifier to identify and prioritise genes associated with murine cardiac development.

A machine learning classifier to identify and prioritise genes associated with murine cardiac development.

Journal: PLoS genetics
Published: November 05, 2024

A machine learning classifier to identify and prioritise genes associated with murine cardiac development.

A machine learning classifier to identify and prioritise genes associated with murine cardiac development.

Journal: PLoS genetics
Published: November 05, 2024

Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project.

Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project.

Journal: European journal of human genetics : EJHG
Published: June 11, 2024

Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.

Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.

Journal: NPJ genomic medicine
Published: December 01, 2023

BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.

BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.

Journal: Journal of medical genetics
Published: July 24, 2023

The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase.

The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase.

Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: May 15, 2023

Genetic association analysis of 77,539 genomes reveals rare disease etiologies.

Genetic association analysis of 77,539 genomes reveals rare disease etiologies.

Journal: Nature medicine
Published: October 21, 2022
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Last Updated: 09/26/2026