Publications:

Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.

Human Mutation

Hitti-Malin, Rebekkah J RJ; Dhaenens, Claire-Marie CM; Panneman, Daan M DM; Corradi, Zelia Z; Khan, Mubeen M; den Hollander, Anneke I AI; Farrar, G Jane GJ; Gilissen, Christian C; Hoischen, Alexander A; van de Vorst, Maartje M; Bults, Femke F; Boonen, Erica G M EGM; Saunders, Patrick P; , ; Roosing, Susanne S; Cremers, Frans P M FPM

Publication Date: 2022-10-19

Variant appearance in text: ABCA4: 1937+435C>G

PubMed Link: 36259723

Variant Present in the following documents:

• HUMU-43-2234-s012.xlsx, sheet 1
• HUMU-43-2234-s007.xlsx, sheet 1

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Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.

Frontiers In Genetics

Keegan, Niall P NP; Wilton, Steve D SD; Fletcher, Sue S

Publication Date: 2022

Variant appearance in text: ABCA4: 1937+435C>G

PubMed Link: 35754842

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 1

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Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Progress In Retinal And Eye Research

Cremers, Frans P M FPM; Lee, Winston W; Collin, Rob W J RWJ; Allikmets, Rando R

Publication Date: 2020-11

Variant appearance in text: ABCA4: 1937+435C>G

PubMed Link: 32278709

Variant Present in the following documents:

• Main text
• nihms-1627942.pdf

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Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.

Human Mutation

Fadaie, Zeinab Z; Khan, Mubeen M; Del Pozo-Valero, Marta M; Cornelis, Stéphanie S SS; Ayuso, Carmen C; Cremers, Frans P M FPM; Roosing, Susanne S; The Abca Study Group,

Publication Date: 2019-12

Variant appearance in text: ABCA4: 1937+435C>G

PubMed Link: 31397521

Variant Present in the following documents:

• Main text
• HUMU-40-2365.pdf

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

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Sangermano, Riccardo R; Garanto, Alejandro A; Khan, Mubeen M; Runhart, Esmee H EH; Bauwens, Miriam M; Bax, Nathalie M NM; van den Born, L Ingeborgh LI; Khan, Muhammad Imran MI; Cornelis, Stéphanie S SS; Verheij, Joke B G M JBGM; Pott, Jan-Willem R JR; Thiadens, Alberta A H J AAHJ; Klaver, Caroline C W CCW; Puech, Bernard B; Meunier, Isabelle I; Naessens, Sarah S; Arno, Gavin G; Fakin, Ana A; Carss, Keren J KJ; Raymond, F Lucy FL; Webster, Andrew R AR; Dhaenens, Claire-Marie CM; Stöhr, Heidi H; Grassmann, Felix F; Weber, Bernhard H F BHF; Hoyng, Carel B CB; De Baere, Elfride E; Albert, Silvia S; Collin, Rob W J RWJ; Cremers, Frans P M FPM

Publication Date: 2019-08

Variant appearance in text: ABCA4: 1937+435C>G

PubMed Link: 30643219

Variant Present in the following documents:

• Main text
• 41436_2018_414_MOESM1_ESM.pdf
• 41436_2018_Article_414.pdf

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