Veronica van Heyningen

9PUBLICATIONS
34CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Molecular evolutionGene expression (incl. microarray and other genome-wide approaches)Gene mappingNeurology and neuromuscular diseases
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Publications (9)

|Mar 03, 2024
Stochasticity in genetics and gene regulation.

Veronica van Heyningen

|Nov 22, 2022
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.

Hildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel

|Aug 13, 2021
Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.

Hemant Bengani, Detelina Grozeva, Lambert Moyon

|Jun 14, 2019
Genome sequencing-the dawn of a game-changing era.

Veronica van Heyningen

|Feb 03, 2019
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.

Raquel S Silva, Gavin Arno, Valentina Cipriani

|Aug 10, 2017
Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.

Valentina Cipriani, Raquel S Silva, Gavin Arno

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Frequent Collaborators

2 joint publications

David R FitzPatrick

2 joint publications

Nikolas Pontikos

2 joint publications

Valentina Cipriani

2 joint publications

Raquel S Silva