Collection

Eye Genetics

Submission status: Closed

Editors

Nicola Ragge ,

Nicola Ragge

Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, OX3 0BP, UK West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, B15 2TG, UK
Nicolas Chassaing &

Nicolas Chassaing

INSERM1056, Université de Toulouse, Centre de Référence des Anomalies Rares en Génétique Ophtalmologique, Service de Génétique Médicale, Centre Hospitalier Universitaire de Toulouse, Toulouse, France
Patrick Calvas

Patrick Calvas

INSERM1056, Université de Toulouse, Centre de Référence des Anomalies Rares en Génétique Ophtalmologique, Service de Génétique Médicale, Centre Hospitalier Universitaire de Toulouse, Toulouse, France

Articles (21 in this collection)

Looking to the future of zebrafish as a model to understand the genetic basis of eye disease

Authors
- Florencia Cavodeassi
- Stephen W. Wilson
- Content type: Review
- Open Access
- Published: 17 August 2019
- Pages: 993 - 1000
Through the looking glass: eye anomalies in the age of molecular science

Authors
- Patrick Calvas
- Elias I. Traboulsi
- Nicola Ragge
- Content type: Perspective
- Published: 07 August 2019
- Pages: 795 - 798
Editorial to the special issue on “Molecular Genetics of Developmental Eye Disorders”

Authors
- Nicola Ragge
- Patrick Calvas
- Nicolas Chassaing
- Content type: Editorial
- Published: 05 August 2019
- Pages: 793 - 793
Genetic architecture of retinoic-acid signaling-associated ocular developmental defects

Authors
- B. Nedelec
- J.-M. Rozet
- L. Fares Taie
- Content type: Review
- Published: 29 July 2019
- Pages: 937 - 955
An update on the genetics of ocular coloboma

Authors
- Aisha S. ALSomiry
- Cheryl Y. Gregory-Evans
- Kevin Gregory-Evans
- Content type: Original Investigation
- Published: 09 May 2019
- Pages: 865 - 880
Mouse models for microphthalmia, anophthalmia and cataracts

Authors
- Jochen Graw
- Content type: Original Investigation
- Open Access
- Published: 27 March 2019
- Pages: 1007 - 1018
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia

Authors (first, second and last of 7)
- J. Plaisancié
- F. Ceroni
- Nicola K. Ragge
- Content type: Review
- Published: 14 February 2019
- Pages: 799 - 830
Prospects and modalities for the treatment of genetic ocular anomalies

Authors
- Cheryl Y. Gregory-Evans
- Xia Wang
- Kevin Gregory-Evans
- Content type: Original Investigation
- Published: 02 January 2019
- Pages: 1019 - 1026
Human eye conditions: insights from the fly eye

Authors (first, second and last of 4)
- Pedro Gaspar
- Isabel Almudi
- Alistair P. McGregor
- Content type: Review
- Published: 01 November 2018
- Pages: 973 - 991
Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia–microphthalmia

Authors
- Anne Slavotinek
- Content type: Review
- Published: 30 October 2018
- Pages: 831 - 846
The genetic architecture of aniridia and Gillespie syndrome

Authors
- Hildegard Nikki Hall
- Kathleen A. Williamson
- David R. FitzPatrick
- Content type: Review
- Open Access
- Published: 22 September 2018
- Pages: 881 - 898
Phenotype–genotype correlations and emerging pathways in ocular anterior segment dysgenesis

Authors
- A. S. Ma
- J. R. Grigg
- R. V. Jamieson
- Content type: Review
- Published: 21 September 2018
- Pages: 899 - 915
Application of CRISPR/Cas9 technologies combined with iPSCs in the study and treatment of retinal degenerative diseases

Authors (first, second and last of 7)
- Bincui Cai
- Shuo Sun
- Xiaorong Li
- Content type: Review
- Published: 10 September 2018
- Pages: 679 - 688
Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes

Authors
- Linda M. Reis
- Elena V. Semina
- Content type: Original Investigation
- Published: 05 September 2018
- Pages: 847 - 863
Non-coding RNAs in retinal development and function

Authors
- Marianthi Karali
- Sandro Banfi
- Content type: Review
- Published: 05 September 2018
- Pages: 957 - 971
The hedgehog pathway and ocular developmental anomalies

Authors
- Florencia Cavodeassi
- Sophie Creuzet
- Heather C. Etchevers
- Content type: Review
- Open Access
- Published: 02 August 2018
- Pages: 917 - 936
Genetics of congenital eye malformations: insights from chick experimental embryology

Authors
- Paola Bovolenta
- Juan-Ramón Martinez-Morales
- Content type: Review
- Published: 06 July 2018
- Pages: 1001 - 1006
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

Authors (first, second and last of 29)
- Nicola Ragge
- Bertrand Isidor
- Nicolas Chassaing
- Content type: Original Investigation
- Published: 04 July 2018
- Pages: 1051 - 1069
A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans

Authors (first, second and last of 6)
- M. Krall
- S. Htun
- A. M. Slavotinek
- Content type: Original Investigation
- Published: 30 April 2018
- Pages: 315 - 328
Congenital glaucoma and CYP1B1: an old story revisited

Authors (first, second and last of 9)
- Hessa S. Alsaif
- Arif O. Khan
- Fowzan S. Alkuraya
- Content type: Original Investigation
- Published: 19 March 2018
- Pages: 1043 - 1049
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies

Authors (first, second and last of 32)
- Fabiola Ceroni
- Domingo Aguilera-Garcia
- Nicola K Ragge
- Content type: Original Investigation
- Published: 20 February 2018
- Pages: 1027 - 1042

Eye Genetics

Editors

Articles (21 in this collection)

Looking to the future of zebrafish as a model to understand the genetic basis of eye disease

Through the looking glass: eye anomalies in the age of molecular science

Editorial to the special issue on “Molecular Genetics of Developmental Eye Disorders”

Genetic architecture of retinoic-acid signaling-associated ocular developmental defects

An update on the genetics of ocular coloboma

Mouse models for microphthalmia, anophthalmia and cataracts

Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia

Prospects and modalities for the treatment of genetic ocular anomalies

Human eye conditions: insights from the fly eye

Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia–microphthalmia

The genetic architecture of aniridia and Gillespie syndrome

Phenotype–genotype correlations and emerging pathways in ocular anterior segment dysgenesis

Application of CRISPR/Cas9 technologies combined with iPSCs in the study and treatment of retinal degenerative diseases

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

Non-coding RNAs in retinal development and function

The hedgehog pathway and ocular developmental anomalies

Genetics of congenital eye malformations: insights from chick experimental embryology

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans

Congenital glaucoma and CYP1B1: an old story revisited

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies

Participating journals

Human Genetics

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Eye Genetics

Editors

Nicola Ragge

Nicolas Chassaing

Patrick Calvas

Articles (21 in this collection)

Authors

Authors

Authors

Authors

Authors

Authors

Authors (first, second and last of 7)

Authors

Authors (first, second and last of 4)

Authors

Authors

Authors

Authors (first, second and last of 7)

Authors

Authors

Authors

Authors

Authors (first, second and last of 29)

Authors (first, second and last of 6)

Authors (first, second and last of 9)

Authors (first, second and last of 32)

Participating journals

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