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Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia

American journal of human genetics, 2013-12, Vol.93 (6), p.1126-1134

2013

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Long-Range Control of Gene Expression: Emerging Mechanisms and Disruption in Disease

American journal of human genetics, 2005-01, Vol.76 (1), p.8-32

2005

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Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia

PloS one, 2022-11, Vol.17 (11), p.e0268149-e0268149

2022

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Aniridia

European journal of human genetics : EJHG, 2012-10, Vol.20 (10), p.1011-1017

2012

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Hsp90 selectively modulates phenotype in vertebrate development

PLoS genetics, 2007-03, Vol.3 (3), p.e43

2007

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eye genes: Looking forward, glancing back

Acta ophthalmologica (Oxford, England), 2022-12, Vol.100 (S275), p.n/a

Van Heyningen, Veronica

2022

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Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence

PLoS genetics, 2008-02, Vol.4 (2), p.e29

2008

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Sequencing of Pax6 loci from the elephant shark reveals a family of Pax6 genes in vertebrate genomes, forged by ancient duplications and divergences

PLoS genetics, 2013-01, Vol.9 (1), p.e1003177

2013

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Genome sequencing-the dawn of a game-changing era

Heredity, 2019-07, Vol.123 (1), p.58-66

van Heyningen, Veronica

2019

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Role of Pax6 in development of the cerebellar system

Development (Cambridge), 1999-08, Vol.126 (16), p.3585-3596

1999

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Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center

Molecular genetics & genomic medicine, 2013-05, Vol.1 (1), p.15-31

2013

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Professor Sue Povey (1942–2019). Former Editor‐in‐Chief of the Annals of Human Genetics, died January 11th 2019

Annals of human genetics, 2019-05, Vol.83 (3), p.192-193

2019

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The level of the transcription factor Pax6 is essential for controlling the balance between neural stem cell self-renewal and neurogenesis

PLoS genetics, 2009-06, Vol.5 (6), p.e1000511-e1000511

2009

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

Journal of medical genetics, 2024-03, Vol.61 (3), p.250-261

2024

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Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

American journal of human genetics, 2016-12, Vol.99 (6), p.1305-1315

2016

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The developmental regulator Pax6 is essential for maintenance of islet cell function in the adult mouse pancreas

PloS one, 2013-01, Vol.8 (1), p.e54173-e54173

2013

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

Human mutation, 2019-05, Vol.40 (5), p.578-587

2019

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Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects

American journal of human genetics, 2014-02, Vol.94 (2), p.295-302

2014

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A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma

Human mutation, 2017-08, Vol.38 (8), p.942-946

2017

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Stochasticity in genetics and gene regulation

Philosophical transactions of the Royal Society of London. Series B. Biological sciences, 2024-04, Vol.379 (1900), p.20230476

van Heyningen, Veronica

2024

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SOX9 governs differentiation stage-specific gene expression in growth plate chondrocytes via direct concomitant transactivation and repression

PLoS genetics, 2011-11, Vol.7 (11), p.e1002356-e1002356

2011

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Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3

Proceedings of the National Academy of Sciences - PNAS, 2010-01, Vol.107 (2), p.775-780

2010

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PAX6 in sensory development

Human molecular genetics, 2002-05, Vol.11 (10), p.1161-1167

2002

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CHD7 targets active gene enhancer elements to modulate ES cell-specific gene expression

PLoS genetics, 2010-07, Vol.6 (7), p.e1001023-e1001023

2010

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Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia

Long-Range Control of Gene Expression: Emerging Mechanisms and Disruption in Disease

Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia

Aniridia

Hsp90 selectively modulates phenotype in vertebrate development

eye genes: Looking forward, glancing back

Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence

Sequencing of Pax6 loci from the elephant shark reveals a family of Pax6 genes in vertebrate genomes, forged by ancient duplications and divergences

Genome sequencing-the dawn of a game-changing era

Role of Pax6 in development of the cerebellar system

Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center

Professor Sue Povey (1942–2019). Former Editor‐in‐Chief of the Annals of Human Genetics, died January 11th 2019

The level of the transcription factor Pax6 is essential for controlling the balance between neural stem cell self-renewal and neurogenesis

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

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

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

The developmental regulator Pax6 is essential for maintenance of islet cell function in the adult mouse pancreas

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

Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma

Stochasticity in genetics and gene regulation

SOX9 governs differentiation stage-specific gene expression in growth plate chondrocytes via direct concomitant transactivation and repression

Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3

PAX6 in sensory development

CHD7 targets active gene enhancer elements to modulate ES cell-specific gene expression

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