Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability-Reference-Cited by-同舟云学术

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability

Published:2023-10 Issue:4 Volume:4 Page:100237
ISSN:2666-2477
Container-title:Human Genetics and Genomics Advances
language:en
Short-container-title:Human Genetics and Genomics Advances

Author:

Corradi Zelia^ORCID,Khan Mubeen,Hitti-Malin Rebekkah,Mishra Ketan,Whelan Laura,Cornelis Stéphanie S.,Hoyng Carel B.,Kämpjärvi Kati,Klaver Caroline C.W.,Liskova Petra,Stöhr Heidi,Weber Bernhard H.F.,Banfi Sandro,Farrar G. Jane,Sharon Dror,Zernant Jana,Allikmets Rando,Dhaenens Claire-Marie,Cremers Frans P.M.

Publisher

Elsevier BV

Subject

Genetics (clinical),Molecular Medicine

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3. "Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.";Maugeri;Am. J. Hum. Genet.,2000

4. The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily;Illing;J. Biol. Chem.,1997

5. The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration;Molday;Biochim. Biophys. Acta,2009

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2. Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy;JAMA Ophthalmology;2024-05-01

3. Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease;Cells;2024-03-29

4. Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes;Biomolecules;2024-03-19