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BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

Human genetics, 2011-10, Vol.130 (4), p.495-504

2011

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Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia

American journal of medical genetics. Part A, 2009-12, Vol.149A (12), p.2706-2715

2009

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A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism

Journal of genetics, 2023-01, Vol.102 (1), Article 14

2023

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Long-term retinal imaging of a case of suspected congenital rubella infection

American journal of ophthalmology case reports, 2022-03, Vol.25, p.101241, Article 101241

2022

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FOXE3 plays a significant role in autosomal recessive microphthalmia

American journal of medical genetics. Part A, 2010-03, Vol.152A (3), p.582-590

2010

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PITX2 deficiency and associated human disease: insights from the zebrafish model

Human molecular genetics, 2018-05, Vol.27 (10), p.1675-1695

2018

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Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes

Human genetics, 2013-07, Vol.132 (7), p.761-770

2013

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Mutation analysis of B3GALTL in Peters Plus syndrome

American journal of medical genetics. Part A, 2008-10, Vol.146A (20), p.2603-2610

2008

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PITX2 and FOXC1 spectrum of mutations in ocular syndromes

European journal of human genetics : EJHG, 2012-12, Vol.20 (12), p.1224-1233

2012

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Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract

Molecular vision, 2014-06, Vol.20, p.836-842

2014

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Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes

Molecular vision, 2016-10, Vol.22, p.1229-1238

2016

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VSX2 mutations in autosomal recessive microphthalmia

Molecular vision, 2011-09, Vol.17, p.2527-2532

2011

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A Case of 22q11.2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1

Ophthalmic genetics, 2015-03, Vol.36 (1), p.92-94

2015

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Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes

Molecular vision, 2010-04, Vol.16, p.768-773

2010

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Erratam to novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.267-267

2012

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OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype

Clinical genetics, 2011-02, Vol.79 (2), p.158-168

2011

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Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

Clinical genetics, 2014-08, Vol.86 (2), p.142-148

2014

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Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies

Clinical genetics, 2016-10, Vol.90 (4), p.378-382

2016

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Production of 3',3'-cGAMP by a Bdellovibrio bacteriovorus promiscuous GGDEF enzyme, Bd0367, regulates exit from prey by gliding motility

PLoS genetics, 2022-05, Vol.18 (5), p.e1010164-e1010164

2022

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Health Disparities Between Genderqueer, Transgender, and Cisgender Individuals: An Extension of Minority Stress Theory

Journal of counseling psychology, 2019-07, Vol.66 (4), p.385-395

2019

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Strengthening the Reporting of Observational Studies in Epidemiology Using Mendelian Randomization: The STROBE-MR Statement

JAMA : the journal of the American Medical Association, 2021-10, Vol.326 (16), p.1614

2021

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Serotonergic modulation of visual neurons in Drosophila melanogaster

PLoS genetics, 2020-08, Vol.16 (8), p.e1009003

2020

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Gamma frequency entrainment attenuates amyloid load and modifies microglia

Nature (London), 2016-12, Vol.540 (7632), p.230-235

2016

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Strengthening the reporting of observational studies in epidemiology using mendelian randomisation (STROBE-MR): explanation and elaboration

BMJ (Online), 2021-10, Vol.375, p.n2233

2021

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Molecular dynamics simulations of magnesium aluminosilicate glass structure: High‐coordinated alumina and oxygen tricluster formation

Journal of the American Ceramic Society, 2024-04, Vol.107 (4), p.2155-2171

2024

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BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia

A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism

Long-term retinal imaging of a case of suspected congenital rubella infection

FOXE3 plays a significant role in autosomal recessive microphthalmia

PITX2 deficiency and associated human disease: insights from the zebrafish model

Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes

Mutation analysis of B3GALTL in Peters Plus syndrome

PITX2 and FOXC1 spectrum of mutations in ocular syndromes

Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract

Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes

VSX2 mutations in autosomal recessive microphthalmia

A Case of 22q11.2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1

Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes

Erratam to novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia

OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype

Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies

Production of 3',3'-cGAMP by a Bdellovibrio bacteriovorus promiscuous GGDEF enzyme, Bd0367, regulates exit from prey by gliding motility

Health Disparities Between Genderqueer, Transgender, and Cisgender Individuals: An Extension of Minority Stress Theory

Strengthening the Reporting of Observational Studies in Epidemiology Using Mendelian Randomization: The STROBE-MR Statement

Serotonergic modulation of visual neurons in Drosophila melanogaster

Gamma frequency entrainment attenuates amyloid load and modifies microglia

Strengthening the reporting of observational studies in epidemiology using mendelian randomisation (STROBE-MR): explanation and elaboration

Molecular dynamics simulations of magnesium aluminosilicate glass structure: High‐coordinated alumina and oxygen tricluster formation

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