Publications:

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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: 5692C>T; Arg1898Cys

PubMed Link: 36460718

Variant Present in the following documents:

• 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: Arg1898Cys

PubMed Link: 35260635

Variant Present in the following documents:

• 41598_2022_7618_MOESM1_ESM.pdf
• 41598_2022_Article_7618.pdf

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Cryo-EM structures of the ABCA4 importer reveal mechanisms underlying substrate binding and Stargardt disease.

Nature Communications

Scortecci, Jessica Fernandes JF; Molday, Laurie L LL; Curtis, Susan B SB; Garces, Fabian A FA; Panwar, Pankaj P; Van Petegem, Filip F; Molday, Robert S RS

Publication Date: 2021-10-08

Variant appearance in text: ABCA4: R1898C

PubMed Link: 34625547

Variant Present in the following documents:

• Main text
• 41467_2021_Article_26161.pdf

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Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration.

International Journal Of Molecular Sciences

Garces, Fabian A FA; Scortecci, Jessica F JF; Molday, Robert S RS

Publication Date: 2020-12-27

Variant appearance in text: ABCA4: R1898C

PubMed Link: 33375396

Variant Present in the following documents:

• Main text
• ijms-22-00185.pdf

View BVdb publication page

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Resolving the phylogenetic origin of glioblastoma via multifocal genomic analysis of pre-treatment and treatment-resistant autopsy specimens.

Npj Precision Oncology

Brastianos, Priscilla K PK; Nayyar, Naema N; Rosebrock, Daniel D; Leshchiner, Ignaty I; Gill, Corey M CM; Livitz, Dimitri D; Bertalan, Mia S MS; D'Andrea, Megan M; Hoang, Kaitlin K; Aquilanti, Elisa E; Chukwueke, Ugonma N UN; Kaneb, Andrew A; Chi, Andrew A; Plotkin, Scott S; Gerstner, Elizabeth R ER; Frosch, Mathew P MP; Suva, Mario L ML; Cahill, Daniel P DP; Getz, Gad G; Batchelor, Tracy T TT

Publication Date: 2017

Variant appearance in text: ABCA4: R1898C

PubMed Link: 29872714

Variant Present in the following documents:

• 41698_2017_35_MOESM2_ESM.xlsx, sheet 1

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Identification of NCAN as a candidate gene for developmental dyslexia.

Scientific Reports

Einarsdottir, Elisabet E; Peyrard-Janvid, Myriam M; Darki, Fahimeh F; Tuulari, Jetro J JJ; Merisaari, Harri H; Karlsson, Linnea L; Scheinin, Noora M NM; Saunavaara, Jani J; Parkkola, Riitta R; Kantojärvi, Katri K; Ämmälä, Antti-Jussi AJ; Yiu-Lin Yu, Nancy N; Matsson, Hans H; Nopola-Hemmi, Jaana J; Karlsson, Hasse H; Paunio, Tiina T; Klingberg, Torkel T; Leinonen, Eira E; Kere, Juha J

Publication Date: 2017-08-24

Variant appearance in text: ABCA4: R1898C; rs201357151

PubMed Link: 28839234

Variant Present in the following documents:

• 41598_2017_10175_MOESM3_ESM.xls, sheet 1
• 41598_2017_10175_MOESM4_ESM.xls, sheet 1

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Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Zaneveld, Jacques J; Siddiqui, Sorath S; Li, Huajin H; Wang, Xia X; Wang, Hui H; Wang, Keqing K; Li, Hui H; Ren, Huanan H; Lopez, Irma I; Dorfman, Allison A; Khan, Ayesha A; Wang, Feng F; Salvo, Jason J; Gelowani, Violet V; Li, Yumei Y; Sui, Ruifang R; Koenekoop, Robert R; Chen, Rui R

Publication Date: 2015-04

Variant appearance in text: ABCR: 5692C>T

PubMed Link: 25474345

Variant Present in the following documents:

View BVdb publication page

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