Focus 13 July 2020

Focus on Ophthalmology

Genetics in Medicine is at the forefront of ophthalmological genetics, informing the ophthalmology community of the latest progress in this fast-moving field and allowing their patients to benefit from up-to-date knowledge.

From reviews of recent advances in ophthalmaological genetics to the clinical research that matters most, you can rely on GIM to keep you well informed in this fast paced and rapidly changing area.

Content

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
- Gabriel C. Dworschak
- Jaya Punetha
- Heiko Reutter
ArticleOpen Access30 May 2021 Genetics in Medicine
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
- Dong Li
- Alanna Strong
- Elizabeth Bhoj
Article27 Nov 2020 Genetics in Medicine
Dopachrome tautomerase variants in patients with oculocutaneous albinism
- Perrine Pennamen
- Angèle Tingaud-Sequeira
- Benoit Arveiler
Article26 Oct 2020 Genetics in Medicine
Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy
- Renae Elaine Bertrand
- Jun Wang
- Rui Chen
Article20 Oct 2020 Genetics in Medicine
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia
- Simone Schröder
- Yun Li
- Knut Brockmann
ArticleOpen Access7 Oct 2020 Genetics in Medicine
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration
- Anjali Vig
- James A. Poulter
- Elise Heon
ArticleOpen Access5 Aug 2020 Genetics in Medicine
Galactokinase deficiency: lessons from the GalNet registry
- M. Estela Rubio-Gozalbo
- Britt Derks
- Gerard T. Berry
ArticleOpen Access18 Aug 2020 Genetics in Medicine
Revealing hidden genetic diagnoses in the ocular anterior segment disorders
- Alan Ma
- Saira Yousoof
- Robyn V. Jamieson
ArticleOpen Access5 Jun 2020 Genetics in Medicine
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
- Mubeen Khan
- Stéphanie S. Cornelis
- Frans P. M. Cremers
Article20 Apr 2020 Genetics in Medicine
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations
- Erin Zampaglione
- Benyam Kinde
- Kinga M. Bujakowska
ArticleOpen Access10 Feb 2020 Genetics in Medicine
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders
- Eva Lenassi
- Jill Clayton-Smith
- Panagiotis I. Sergouniotis
ArticleOpen Access18 Dec 2019 Genetics in Medicine
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction
- Kathleen A. Williamson
- H. Nikki Hall
- David R. FitzPatrick
ArticleOpen Access8 Nov 2019 Genetics in Medicine
Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy
- Lin Zhang
- Xiang Zhang
- Zhenglin Yang
Article5 Jul 2019 Genetics in Medicine
SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis
- Yongjia Yang
- Yu Zheng
- Yimin Zhu
Article29 May 2019 Genetics in Medicine
Including the blind community in precision medicine research: findings from a national survey and recommendations
- Maya Sabatello
- Lou Ann Blake
- Paul S. Appelbaum
Education Report16 May 2019 Genetics in Medicine
Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis
- Bo Gong
- Houbin Zhang
- Zhenglin Yang
Article19 Apr 2019 Genetics in Medicine
A case–control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants
- Charles J. Wolock
- Nicholas Stong
- Rando Allikmets
Article30 Mar 2019 Genetics in Medicine
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
- Riccardo Sangermano
- Alejandro Garanto
- Frans P. M. Cremers
ArticleOpen Access15 Jan 2019 Genetics in Medicine
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder
- Lloyd B. Williams
- Asif Javed
- Margaret M. DeAngelis
ArticleOpen Access10 Apr 2019 Genetics in Medicine
CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat
- Nathaniel J. Hafford-Tear
- Yu-Chih Tsai
- Alice E. Davidson
ArticleOpen Access8 Feb 2019 Genetics in Medicine
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
- Miriam Bauwens
- Alejandro Garanto
- Elfride De Baere
ArticleOpen Access23 Jan 2019 Genetics in Medicine
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
- Stijn Van de Sompele
- Claire Smith
- Elfride De Baere
ArticleOpen Access31 Oct 2018 Genetics in Medicine
Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration
- Farzad Jamshidi
- Emily M. Place
- Kinga M. Bujakowska
Article3 Aug 2018 Genetics in Medicine
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
- Kristof Van Schil
- Sarah Naessens
- Elfride De Baere
Original Research ArticleOpen Access27 Jul 2017 Genetics in Medicine
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
- Thierry Vilboux
- Daniel A. Doherty
- Meral Gunay-Aygun
Original Research Article26 Jan 2017 Genetics in Medicine
GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity
- Xue Chen
- Xunlun Sheng
- Chen Zhao
Original Research ArticleOpen Access26 Jan 2017 Genetics in Medicine
Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example
- Niall Davison
- Katherine Payne
- Georgina Hall
Original Research Article16 Mar 2017 Genetics in Medicine
arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs
- Caroline Van Cauwenbergh
- Kristof Van Schil
- Elfride De Baere
Original Research ArticleOpen Access8 Sep 2016 Genetics in Medicine
Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations
- Kinga M. Bujakowska
- Rosario Fernandez-Godino
- Eric A. Pierce
Original Research Article13 Oct 2016 Genetics in Medicine

Focus on Ophthalmology

Content

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females

Dopachrome tautomerase variants in patients with oculocutaneous albinism

Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration

Galactokinase deficiency: lessons from the GalNet registry

Revealing hidden genetic diagnoses in the ocular anterior segment disorders

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders

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

Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy

SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis

Including the blind community in precision medicine research: findings from a national survey and recommendations

Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis

A case–control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

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

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center

GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity

Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example

arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs

Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations

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