Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy-Reference-Cited by-同舟云学术

Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy

Published:2024-06 Issue:6 Volume:26 Page:101081
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Zeitz Christina^ORCID,Navarro Julien^ORCID,Azizzadeh Pormehr Leila,Méjécase Cécile^ORCID,Neves Luiza M.,Letellier Camille,Condroyer Christel^ORCID,Albadri Shahad^ORCID,Amprou Andréa^ORCID,Antonio Aline^ORCID,Ben-Yacoub Tasnim^ORCID,Wohlschlegel Juliette^ORCID,Andrieu Camille,Serafini Malo,Bianco Lorenzo^ORCID,Antropoli Alessio^ORCID,Nassisi Marco^ORCID,El Shamieh Said^ORCID,Chantot-Bastaraud Sandra^ORCID,Mohand-Saïd Saddek^ORCID,Smirnov Vasily^ORCID,Sahel José-Alain^ORCID,Del Bene Filippo^ORCID,Audo Isabelle^ORCID

Funder

Foundation Fighting Blindness Inc

Agence nationale de la recherche

Fondation pour la Recherche Medicale

Retina France

UNADEV

MESR

Publisher

Elsevier BV

Reference40 articles.

1. Molecular genetics of inherited retinal degenerations;Lindsay;Curr Opin Genet Dev,1992

2. Retinitis pigmentosa;Hamel;Orphanet J Rare Dis,2006

3. Causes and consequences of inherited cone disorders;Roosing;Prog Retin Eye Res,2014

4. The molecular basis of human retinal and vitreoretinal diseases;Berger;Prog Retin Eye Res,2010

5. Inherited retinal diseases: linking genes, disease-causing variants, and relevant therapeutic modalities;Schneider;Prog Retin Eye Res,2022

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2. The Landscape of Genomic Services for Inherited Retinal Degenerations (IRDs) Across Europe;Clinical Ophthalmology;2024-08

3. Molecular Mechanisms Governing Sight Loss in Inherited Cone Disorders;Genes;2024-06-01