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Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis

American journal of human genetics, 2011-07, Vol.89 (1), p.183-190

2011

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Fuchs endothelial corneal dystrophy: current perspectives on diagnostic pathology and genetics—Bowman Club Lecture

BMJ open ophthalmology, 2022-07, Vol.7 (1), p.e001103

2022

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Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity

American journal of human genetics, 2018-04, Vol.102 (4), p.528-539

2018

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Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis

American journal of human genetics, 2016-12, Vol.99 (6), p.1338-1352

2016

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Retinal Structure, Function, and Molecular Pathologic Features in Gyrate Atrophy

Ophthalmology (Rochester, Minn.), 2012-03, Vol.119 (3), p.596-605

2012

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Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4

American journal of human genetics, 2018-03, Vol.102 (3), p.447-459

2018

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A Longitudinal Study of Stargardt Disease: Clinical and Electrophysiologic Assessment, Progression, and Genotype Correlations

American journal of ophthalmology, 2013-06, Vol.155 (6), p.1075-1088.e13

2013

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The Bright and Dark Aspects of Grit in the Pursuit of Success

Psychological reports, 2021-04, Vol.124 (2), p.839-861

2021

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Characterisation of ASD traits among a cohort of children with isolated fetal ventriculomegaly

Nature communications, 2023-03, Vol.14 (1), p.1550-1550, Article 1550

2023

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Retinal structure and function in achromatopsia: implications for gene therapy

Ophthalmology (Rochester, Minn.), 2014-01, Vol.121 (1), p.234-245

2014

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CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat

Genetics in medicine, 2019-09, Vol.21 (9), p.2092-2102

2019

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Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy

Human mutation, 2024-01, Vol.2024, p.1-10

2024

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Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease

PLoS genetics, 2024-05, Vol.20 (5), p.e1011230-e1011230

2024

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The Clinical Effect of Homozygous ABCA4 Alleles in 18 Patients

Ophthalmology (Rochester, Minn.), 2013-11, Vol.120 (11), p.2324-2331

2013

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Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3

Cornea, 2019-06, Vol.38 (6), p.758

2019

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IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing

Investigative ophthalmology & visual science, 2019-07, Vol.60 (8), p.3084-3090

2019

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Conflict Narratives in Middle Childhood: The Social, Emotional, and Moral Significance of Story-Sharing

Psychology Press, Taylor & Francis Group, 2017

1, 2017

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Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa

American journal of human genetics, 2013-08, Vol.93 (2), p.321-329

2013

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Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa

American journal of human genetics, 2009-11, Vol.85 (5), p.581-592

2009

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Clinical and Molecular Analysis of Stargardt Disease With Preserved Foveal Structure and Function

American journal of ophthalmology, 2013-09, Vol.156 (3), p.487-501.e1

2013

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Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy

Acta ophthalmologica (Oxford, England), 2022-11, Vol.100 (7), p.e1426-e1430

2022

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Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1

American journal of ophthalmology, 2024-02, Vol.258, p.183-195

2024

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Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

Human molecular genetics, 2012-08, Vol.21 (16), p.3647-3654

2012

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Internal state language and resolution strategies in preschoolers' narratives about sad experiences

Early child development and care, 2021-04, Vol.191 (6), p.876-890

2021

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Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis

Fuchs endothelial corneal dystrophy: current perspectives on diagnostic pathology and genetics—Bowman Club Lecture

Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis

Retinal Structure, Function, and Molecular Pathologic Features in Gyrate Atrophy

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4

A Longitudinal Study of Stargardt Disease: Clinical and Electrophysiologic Assessment, Progression, and Genotype Correlations

The Bright and Dark Aspects of Grit in the Pursuit of Success

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

Characterisation of ASD traits among a cohort of children with isolated fetal ventriculomegaly

Retinal structure and function in achromatopsia: implications for gene therapy

CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat

Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy

Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease

The Clinical Effect of Homozygous ABCA4 Alleles in 18 Patients

Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3

IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing

Conflict Narratives in Middle Childhood: The Social, Emotional, and Moral Significance of Story-Sharing

Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa

Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa

Clinical and Molecular Analysis of Stargardt Disease With Preserved Foveal Structure and Function

Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy

Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

Internal state language and resolution strategies in preschoolers' narratives about sad experiences

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