Veronica Van Heyningen

Edinburgh, SCT, United Kingdom

Last Updated: 09/26/2026

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Found 29 publications

Stochasticity in genetics and gene regulation.

Stochasticity in genetics and gene regulation.

Journal: Philosophical transactions of the Royal Society of London. Series B, Biological sciences

Published: March 03, 2024

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

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

Journal: Journal of medical genetics

Published: March 12, 2023

A Journey Through Genetics to Biology.

A Journey Through Genetics to Biology.

Journal: Annual review of genomics and human genetics

Published: May 14, 2022

Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.

Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.

Journal: PloS one

Published: April 14, 2021

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.

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

Published: July 24, 2019

Genome sequencing-the dawn of a game-changing era.

Genome sequencing-the dawn of a game-changing era.

Journal: Heredity

Published: April 04, 2019

Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.

Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.

Journal: Human mutation

Published: November 12, 2018

Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.

Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.

Journal: Ophthalmic genetics

Published: June 22, 2017

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Journal: Nature genetics

Published: May 27, 2017

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.

Journal: Human mutation

Published: February 14, 2017

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.

Journal: Scientific reports

Published: February 14, 2017

KDM3A coordinates actin dynamics with intraflagellar transport to regulate cilia stability.

KDM3A coordinates actin dynamics with intraflagellar transport to regulate cilia stability.

Journal: The Journal of cell biology

Published: July 12, 2016

Showing 1-12 of 29

Last Updated: 09/26/2026