Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease-Reference-Cited by-同舟云学术

Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease

Published:2019-06-18 Issue:10 Volume:40 Page:1749-1759
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Khan Mubeen¹²^ORCID,Cornelis Stéphanie S.¹²^ORCID,Khan Muhammad Imran¹²,Elmelik Duaa¹,Manders Eline¹,Bakker Sem¹,Derks Ronny¹,Neveling Kornelia¹,Vorst Maartje¹,Gilissen Christian¹³,Meunier Isabelle⁴,Defoort Sabine⁵,Puech Bernard⁵,Devos Aurore⁶,Schulz Heidi L.⁷,Stöhr Heidi⁷,Grassmann Felix⁷⁸,Weber Bernhard H. F.⁷,Dhaenens Claire‐Marie⁶,Cremers Frans P. M.¹²

Affiliation:

1. Department of Human GeneticsRadboud University Medical Center Nijmegen The Netherlands

2. Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center Nijmegen The Netherlands

3. Radboud Institute for Molecular Life Sciences, Radboud University Medical Center Nijmegen The Netherlands

4. Institut des Neurosciences de Montpellier, INSERM, Université de Montpellier Montpellier France

5. Service d'exploration de la vision et neuro‐ophtalmologie, CHRU de Lille Lille France

6. University of Lille, INSERM UMR‐S1172, CHU Lille, Biochemistry and Molecular Biology Department, UF Genopathies Lille France

7. Institute of Human Genetics, University of Regensburg Regensburg Germany

8. Department of Medical Epidemiology and BiostatisticsKarolinska Institutet Stockholm Sweden

Funder

Stichting Blindenhulp

Landelijke Stichting voor Blinden en Slechtzienden

Rotterdamse Stichting Blindenbelangen

Stichting Blinden-Penning

Retina UK

Stichting tot Verbetering van het Lot der Blinden

Algemene Nederlandse Vereniging ter voorkoming van Blindheid

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23787

Reference46 articles.

1. A method and server for predicting damaging missense mutations

2. Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease

3. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy

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

5. An AugmentedABCA4Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients

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