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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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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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Psip1/p52 regulates posterior Hoxa genes through activation of lncRNA Hottip

PLoS genetics, 2017-04, Vol.13 (4), p.e1006677

2017

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Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Genetics in medicine, 2017-08, Vol.19 (8), p.900-908

2017

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FRA2A is a CGG repeat expansion associated with silencing of AFF3

PLoS genetics, 2014-04, Vol.10 (4), p.e1004242

2014

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Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome

Nature communications, 2015-04, Vol.6 (1), p.6904, Article 6904

2015

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Identification and Validation of a Putative Polycomb Responsive Element in the Human Genome

PloS one, 2013-06, Vol.8 (6), p.e67217-e67217

2013

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BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

Nature genetics, 2018-03, Vol.50 (3), p.329-332

2018

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Characterization of an eye field-like state during optic vesicle organoid development

Development (Cambridge), 2023-08, Vol.150 (15)

2023

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

Nature genetics, 2017-02, Vol.49 (2), p.238-248

2017

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Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Journal of medical genetics, 2014-10, Vol.51 (10), p.659-668

2014

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A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

American journal of human genetics, 2016-05, Vol.98 (5), p.981-992

2016

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Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice

Scientific reports, 2017-04, Vol.7 (1), p.46019-46019, Article 46019

2017

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Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence

Human molecular genetics, 2014-05, Vol.23 (10), p.2569-2579

2014

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Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Genetics in medicine, 2017-08, Vol.19 (8), p.900-908

2017

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Miller (Genée―Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH

Human molecular genetics, 2012-09, Vol.21 (18), p.3969-3983

2012

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Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

Nature genetics, 2019-07, Vol.51 (7), p.1192-1192

2019

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Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

Nature genetics, 2018-05, Vol.50 (5), p.767-767

2018

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Robust Genetic Analysis of the X-Linked Anophthalmic ( Ie ) Mouse

Genes, 2022-10, Vol.13 (10), p.1797

2022

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

PloS one, 2022-01, Vol.17 (11)

2022

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

Nature genetics, 2017-06, Vol.49 (6), p.969-969

2017

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

Nature genetics, 2017-05, Vol.49 (6), p.969-969

2017

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FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3: e1004242

PLoS genetics, 2014-04, Vol.10 (4)

2014

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

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

Psip1/p52 regulates posterior Hoxa genes through activation of lncRNA Hottip

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

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

FRA2A is a CGG repeat expansion associated with silencing of AFF3

Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome

Identification and Validation of a Putative Polycomb Responsive Element in the Human Genome

BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

Characterization of an eye field-like state during optic vesicle organoid development

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

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence

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

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Miller (Genée―Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH

Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

Robust Genetic Analysis of the X-Linked Anophthalmic ( Ie ) Mouse

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

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

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

FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3: e1004242

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