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Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms

Progress in retinal and eye research, 2024-09, Vol.102, p.101288, Article 101288

2024

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Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome

PloS one, 2017-09, Vol.12 (9), p.e0184903-e0184903

2017

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Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts

PLoS genetics, 2015-02, Vol.11 (2), p.e1005002-e1005002

2015

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Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes

Human genetics, 2019-09, Vol.138 (8-9), p.847-863

2019

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Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches

Progress in retinal and eye research, 2023-07, Vol.95, p.101133-101133, Article 101133

2023

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De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome

American journal of human genetics, 2019-08, Vol.105 (2), p.425-433

2019

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Disruption of foxc1 genes in zebrafish results in dosage-dependent phenotypes overlapping Axenfeld-Rieger syndrome

Human molecular genetics, 2020-09, Vol.29 (16), p.2723-2735

2020

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In Vivo Assessment of Retinal Phenotypes in Axenfeld-Rieger Syndrome

Investigative ophthalmology & visual science, 2024-04, Vol.65 (4), p.20-20

2024

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Axenfeld-Rieger syndrome: more than meets the eye

Journal of medical genetics, 2023-04, Vol.60 (4), p.368-379

2023

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Identification of missense MAB21L1 variants in microphthalmia and aniridia

Human mutation, 2021-07, Vol.42 (7), p.877-890

2021

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pitx2 Deficiency results in abnormal ocular and craniofacial development in zebrafish

PloS one, 2012-01, Vol.7 (1), p.e30896

2012

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Genetics of anterior segment dysgenesis disorders

Current opinion in ophthalmology, 2011-09, Vol.22 (5), p.314-324

2011

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A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element

Human mutation, 2024-01, Vol.2024, p.1-15

2024

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ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes

European journal of human genetics : EJHG, 2023-03, Vol.31 (3), p.363-367

2023

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Genetic disruption of zebrafish mab21l1 reveals a conserved role in eye development and affected pathways

Developmental dynamics, 2021-08, Vol.250 (8), p.1056-1073

2021

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Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma

European journal of human genetics : EJHG, 2016-04, Vol.24 (4), p.535-541

2016

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CRISPR-Cas9-mediated functional dissection of the foxc1 genomic region in zebrafish identifies critical conserved cis-regulatory elements

Human genomics, 2022-10, Vol.16 (1), p.49-49, Article 49

2022

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Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study

American journal of medical genetics. Part A, 2022-01, Vol.188 (1), p.187-198

2022

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WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins

Human genetics, 2021-12, Vol.140 (12), p.1775-1789

2021

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Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia

Clinical genetics, 2021-03, Vol.99 (3), p.437-442

2021

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Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma

Birth defects research. Part C. Embryo today, 2015-06, Vol.105 (2), p.96-113

2015

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Identification of HSPA8 as an interacting partner of MAB21L2 and an important factor in eye development

Developmental dynamics, 2023-04, Vol.252 (4), p.510-526

2023

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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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Novel Genetic Diagnoses in Septo-Optic Dysplasia

Genes, 2022-06, Vol.13 (7), p.1165

2022

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Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders

Human molecular genetics, 2021-08, Vol.30 (17), p.1591-1606

2021

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Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms

Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome

Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts

Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes

Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches

De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome

Disruption of foxc1 genes in zebrafish results in dosage-dependent phenotypes overlapping Axenfeld-Rieger syndrome

In Vivo Assessment of Retinal Phenotypes in Axenfeld-Rieger Syndrome

Axenfeld-Rieger syndrome: more than meets the eye

Identification of missense MAB21L1 variants in microphthalmia and aniridia

pitx2 Deficiency results in abnormal ocular and craniofacial development in zebrafish

Genetics of anterior segment dysgenesis disorders

A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element

ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes

Genetic disruption of zebrafish mab21l1 reveals a conserved role in eye development and affected pathways

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma

CRISPR-Cas9-mediated functional dissection of the foxc1 genomic region in zebrafish identifies critical conserved cis-regulatory elements

Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study

WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins

Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia

Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma

Identification of HSPA8 as an interacting partner of MAB21L2 and an important factor in eye development

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

Novel Genetic Diagnoses in Septo-Optic Dysplasia

Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders

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