Publications:

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: Gln1555del

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: Gln1555del

PubMed Link: 31397521

Variant Present in the following documents:

• Main text
• HUMU-40-2365.pdf
• HUMU-40-2365-s001.pdf

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ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.

Genome Research

Sangermano, Riccardo R; Khan, Mubeen M; Cornelis, Stéphanie S SS; Richelle, Valerie V; Albert, Silvia S; Garanto, Alejandro A; Elmelik, Duaa D; Qamar, Raheel R; Lugtenberg, Dorien D; van den Born, L Ingeborgh LI; Collin, Rob W J RWJ; Cremers, Frans P M FPM

Publication Date: 2018-01

Variant appearance in text: STGD1: Gln1555del

PubMed Link: 29162642

Variant Present in the following documents:

• 100.pdf

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