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: N96K

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.

International Journal Of Molecular Sciences

Nassisi, Marco M; Mohand-Saïd, Saddek S; Dhaenens, Claire-Marie CM; Boyard, Fiona F; Démontant, Vanessa V; Andrieu, Camille C; Antonio, Aline A; Condroyer, Christel C; Foussard, Marine M; Méjécase, Cécile C; Eandi, Chiara Maria CM; Sahel, José-Alain JA; Zeitz, Christina C; Audo, Isabelle I

Publication Date: 2018-07-27

Variant appearance in text: ABCA4: Asn96Lys

PubMed Link: 30060493

Variant Present in the following documents:

• Main text

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Macular function and morphologic features in juvenile stargardt disease: longitudinal study.

Ophthalmology

Testa, Francesco F; Melillo, Paolo P; Di Iorio, Valentina V; Orrico, Ada A; Attanasio, Marcella M; Rossi, Settimio S; Simonelli, Francesca F

Publication Date: 2014-12

Variant appearance in text: ABCA4: N96K

PubMed Link: 25097154

Variant Present in the following documents:

• Main text

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Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.

Investigative Ophthalmology & Visual Science

Burke, Tomas R TR; Fishman, Gerald A GA; Zernant, Jana J; Schubert, Carl C; Tsang, Stephen H SH; Smith, R Theodore RT; Ayyagari, Radha R; Koenekoop, Robert K RK; Umfress, Allison A; Ciccarelli, Maria Laura ML; Baldi, Alfonso A; Iannaccone, Alessandro A; Cremers, Frans P M FP; Klaver, Caroline C W CC; Allikmets, Rando R

Publication Date: 2012-07-03

Variant appearance in text: ABCA4: N96K

PubMed Link: 22661473

Variant Present in the following documents:

• Main text

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