Publications:

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Scientific Reports

Karali, Marianthi M; Testa, Francesco F; Di Iorio, Valentina V; Torella, Annalaura A; Zeuli, Roberta R; Scarpato, Margherita M; Romano, Francesca F; Onore, Maria Elena ME; Pizzo, Mariateresa M; Melillo, Paolo P; Brunetti-Pierri, Raffaella R; Passerini, Ilaria I; Pelo, Elisabetta E; Cremers, Frans P M FPM; Esposito, Gabriella G; Nigro, Vincenzo V; Simonelli, Francesca F; Banfi, Sandro S

Publication Date: 2022-12-02

Variant appearance in text: ABCA4: 1798G>T; Asp600Tyr

PubMed Link: 36460718

Variant Present in the following documents:

• 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies.

Molecular Genetics & Genomic Medicine

Kamenarova, Kunka K; Mihova, Kalina K; Veleva, Nevyana N; Mermeklieva, Elena E; Mihaylova, Bilyana B; Dimitrova, Galina G; Oscar, Alexander A; Shandurkov, Iliyan I; Cherninkova, Sylvia S; Kaneva, Radka R

Publication Date: 2022-08

Variant appearance in text: ABCA4: 1798G>T

PubMed Link: 35656873

Variant Present in the following documents:

• Main text
• MGG3-10-e1997.pdf

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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: D600Y

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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Full-field ERG as a predictor of the natural course of ABCA4-associated retinal degenerations.

Molecular Vision

Schroeder, Marion M; Kjellström, Ulrika U

Publication Date: 2018

Variant appearance in text: STGD: 1798G>T

PubMed Link: 29386879

Variant Present in the following documents:

• Main text
• mv-v24-1.pdf

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: ABCA4: 1798G>T; rs61752397

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page