Publications:

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: S2129G

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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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: 6385A>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: 6385A>G

PubMed Link: 31397521

Variant Present in the following documents:

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

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Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families.

Molecular Vision

Tayebi, Naeimeh N; Akinrinade, Oyediran O; Khan, Muhammad Imran MI; Hejazifar, Arash A; Dehghani, Alireza A; Cremers, Frans P M FPM; Akhlaghi, Mohammadreza M

Publication Date: 2019

Variant appearance in text: ABCA4: 6385A>G

PubMed Link: 30820146

Variant Present in the following documents:

• Main text
• mv-v25-106.pdf

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ABCA4 gene screening by next-generation sequencing in a British cohort.

Investigative Ophthalmology & Visual Science

Fujinami, Kaoru K; Zernant, Jana J; Chana, Ravinder K RK; Wright, Genevieve A GA; Tsunoda, Kazushige K; Ozawa, Yoko Y; Tsubota, Kazuo K; Webster, Andrew R AR; Moore, Anthony T AT; Allikmets, Rando R; Michaelides, Michel M

Publication Date: 2013-10-11

Variant appearance in text: ABCA4: 6385A>G; S2129G

PubMed Link: 23982839

Variant Present in the following documents:

• Main text

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