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The genetic architecture of microphthalmia, anophthalmia and coloboma

European journal of medical genetics, 2014-08, Vol.57 (8), p.369-380

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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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 secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma

Human molecular genetics, 2016-04, Vol.25 (7), p.1382-1391

2016

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Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

Human molecular genetics, 2006-05, Vol.15 (9), p.1413-1422

2006

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Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features

BMC pediatrics, 2018-09, Vol.18 (1), p.308-308, Article 308

2018

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SOX2 anophthalmia syndrome

American journal of medical genetics. Part A, 2005-05, Vol.135A (1), p.1-7

2005

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Detailed Ophthalmologic Evaluation of 43 Individuals with PAX6 Mutations

Investigative ophthalmology & visual science, 2009-06, Vol.50 (6), p.2581-2590

2009

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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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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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Polymicrogyria and absence of pineal gland due to PAX6 mutation

Annals of neurology, 2003-05, Vol.53 (5), p.658-663

2003

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NAA10 polyadenylation signal variants cause syndromic microphthalmia

Journal of medical genetics, 2019-07, Vol.56 (7), p.444-452

2019

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Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

PloS one, 2016-04, Vol.11 (4), p.e0153757-e0153757

2016

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Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations

American journal of human genetics, 2014-06, Vol.94 (6), p.915-923

2014

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Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose

The journal of clinical endocrinology and metabolism, 2020-05, Vol.105 (5), p.1538-1551

2020

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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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PAX6 in sensory development

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

2002

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Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations

American journal of human genetics, 2005-06, Vol.76 (6), p.1008-1022

2005

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Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia

American journal of medical genetics. Part A, 2008-03, Vol.146A (5), p.558-569

2008

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Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations

American journal of medical genetics. Part A, 2016-11, Vol.170A (11), p.3048-3050

2016

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A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction

Molecular vision, 2009-11, Vol.15, p.2442-2447

2009

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PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans

Nature genetics, 2001-07, Vol.28 (3), p.214-216

2001

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A randomised controlled trial of supplemental oxygen versus medical air during exercise training in people with chronic obstructive pulmonary disease: supplemental oxygen in pulmonary rehabilitation trial (SuppORT) (Protocol)

BMC pulmonary medicine, 2016-02, Vol.16 (25), p.25-25, Article 25

2016

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Role of SOX2 Mutations in Human Hippocampal Malformations and Epilepsy

Epilepsia (Copenhagen), 2006-03, Vol.47 (3), p.534-542

2006

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The genetic architecture of microphthalmia, anophthalmia and coloboma

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

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

A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features

SOX2 anophthalmia syndrome

Detailed Ophthalmologic Evaluation of 43 Individuals with PAX6 Mutations

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

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

Polymicrogyria and absence of pineal gland due to PAX6 mutation

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

NAA10 polyadenylation signal variants cause syndromic microphthalmia

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations

Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma

PAX6 in sensory development

Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations

Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia

Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations

A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction

PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans

A randomised controlled trial of supplemental oxygen versus medical air during exercise training in people with chronic obstructive pulmonary disease: supplemental oxygen in pulmonary rehabilitation trial (SuppORT) (Protocol)

Role of SOX2 Mutations in Human Hippocampal Malformations and Epilepsy

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