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: W439X

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration.

Investigative Ophthalmology & Visual Science

Matsui, Rodrigo R; Cideciyan, Artur V AV; Schwartz, Sharon B SB; Sumaroka, Alexander A; Roman, Alejandro J AJ; Swider, Malgorzata M; Huang, Wei Chieh WC; Sheplock, Rebecca R; Jacobson, Samuel G SG

Publication Date: 2015-09

Variant appearance in text: ABCA4: W439X

PubMed Link: 26393467

Variant Present in the following documents:

• Main text

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The value of retinal imaging with infrared scanning laser ophthalmoscopy in patients with stargardt disease.

Retina (Philadelphia, Pa.)

Chun, Robert R; Fishman, Gerald A GA; Collison, Frederick T FT; Stone, Edwin M EM; Zernant, Jana J; Allikmets, Rando R

Publication Date: 2014-07

Variant appearance in text: ABCA4: W439X

PubMed Link: 24317291

Variant Present in the following documents:

• Main text

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Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients.

Molecular Vision

Roberts, Lisa J LJ; Nossek, Christel A CA; Greenberg, L Jacquie LJ; Ramesar, Rajkumar S RS

Publication Date: 2012

Variant appearance in text: ABCR: Trp439*

PubMed Link: 22328824

Variant Present in the following documents:

• Main text
• mv-v18-280.pdf

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