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: 5285C>A; Ala1762Asp

PubMed Link: 36460718

Variant Present in the following documents:

• 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1

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Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.

Scientific Reports

Falsini, Benedetto B; Placidi, Giorgio G; De Siena, Elisa E; Chiurazzi, Pietro P; Minnella, Angelo Maria AM; Savastano, Maria Cristina MC; Ziccardi, Lucia L; Parisi, Vincenzo V; Iarossi, Giancarlo G; Percio, Marcella M; Piteková, Barbora B; Marceddu, Giuseppe G; Maltese, Paolo Enrico PE; Bertelli, Matteo M

Publication Date: 2022-03-08

Variant appearance in text: ABCA4: 5285C>A; Ala1762Asp; rs121909206

PubMed Link: 35260635

Variant Present in the following documents:

• 41598_2022_7618_MOESM1_ESM.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: A1762D

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.

Biomed Research International

Bernardis, Isabella I; Chiesi, Laura L; Tenedini, Elena E; Artuso, Lucia L; Percesepe, Antonio A; Artusi, Valentina V; Simone, Maria Luisa ML; Manfredini, Rossella R; Camparini, Monica M; Rinaldi, Chiara C; Ciardella, Antonio A; Graziano, Claudio C; Balducci, Nicole N; Tranchina, Antonia A; Cavallini, Gian Maria GM; Pietrangelo, Antonello A; Marigo, Valeria V; Tagliafico, Enrico E

Publication Date: 2016

Variant appearance in text: ABCA4: 5285C>A

PubMed Link: 28127548

Variant Present in the following documents:

• Main text
• BMRI2016-6341870.pdf

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ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

European Journal Of Human Genetics : Ejhg

Kitiratschky, Veronique B D VB; Grau, Tanja T; Bernd, Antje A; Zrenner, Eberhart E; Jägle, Herbert H; Renner, Agnes B AB; Kellner, Ulrich U; Rudolph, Günther G; Jacobson, Samuel G SG; Cideciyan, Artur V AV; Schaich, Simone S; Kohl, Susanne S; Wissinger, Bernd B

Publication Date: 2008-07

Variant appearance in text: ABCA4: 5285C>A; A1762D

PubMed Link: 18285826

Variant Present in the following documents:

• Main text

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