Publications:

The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: ABCA4: 4773+1G>A; rs61751376

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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A novel statistical method for interpreting the pathogenicity of rare variants.

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

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: ABCA4: 4773+1G>A

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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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: 4773+1G>A

PubMed Link: 30643219

Variant Present in the following documents:

• Main text
• 41436_2018_Article_414.pdf

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Full-field ERG as a predictor of the natural course of ABCA4-associated retinal degenerations.

Molecular Vision

Schroeder, Marion M; Kjellström, Ulrika U

Publication Date: 2018

Variant appearance in text: STGD: 4773+1G>A

PubMed Link: 29386879

Variant Present in the following documents:

• Main text
• mv-v24-1.pdf

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Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease.

Plos One

Lambertus, Stanley S; Bax, Nathalie M NM; Fakin, Ana A; Groenewoud, Joannes M M JM; Klevering, B Jeroen BJ; Moore, Anthony T AT; Michaelides, Michel M; Webster, Andrew R AR; van der Wilt, Gert Jan GJ; Hoyng, Carel B CB

Publication Date: 2017

Variant appearance in text: ABCA4: 4773+1G>A

PubMed Link: 28355279

Variant Present in the following documents:

• Main text
• pone.0174020.pdf

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