Publications:

Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry.

Acta Ophthalmologica

Runhart, Esmee H EH; Dhooge, Patty P; Meester-Smoor, Magda M; Pas, Jeroen J; Pott, Jan Willem R JWR; van Leeuwen, Redmer R; Kroes, Hester Y HY; Bergen, Arthur A AA; de Jong-Hesse, Yvonne Y; Thiadens, Alberta A AA; van Schooneveld, Mary J MJ; van Genderen, Maria M; Boon, Camiel C; Klaver, Caroline C; van den Born, L Ingeborg LI; Cremers, Frans P M FPM; Hoyng, Carel B CB

Publication Date: 2022-06

Variant appearance in text: ABCA4: 3398T>C

PubMed Link: 34431609

Variant Present in the following documents:

• Main text
• AOS-100-395.pdf

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Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

Bmc Medical Genomics

Ma, Dae Joong DJ; Lee, Hyun-Seob HS; Kim, Kwangsoo K; Choi, Seongmin S; Jang, Insoon I; Cho, Seo-Ho SH; Yoon, Chang Ki CK; Lee, Eun Kyoung EK; Yu, Hyeong Gon HG

Publication Date: 2021-03-10

Variant appearance in text: ABCA4: I1133T

PubMed Link: 33691693

Variant Present in the following documents:

• 12920_2021_874_MOESM1_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: I1133T

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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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: 3398T>C; I1133T

PubMed Link: 23982839

Variant Present in the following documents:

• Main text

View BVdb publication page