Publications:

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SpliceVault predicts the precise nature of variant-associated mis-splicing.

Nature Genetics

Dawes, Ruebena R; Bournazos, Adam M AM; Bryen, Samantha J SJ; Bommireddipalli, Shobhana S; Marchant, Rhett G RG; Joshi, Himanshu H; Cooper, Sandra T ST

Publication Date: 2023-02-06

Variant appearance in text: ABCA4: 3607G>A

PubMed Link: 36747048

Variant Present in the following documents:

• 41588_2022_1293_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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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: 3607G>A; Gly1203Arg

PubMed Link: 36460718

Variant Present in the following documents:

• 41598_2022_24636_MOESM2_ESM.xlsx, sheet 2
• 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: 3607G>A; Gly1203Arg; rs1064793011

PubMed Link: 35260635

Variant Present in the following documents:

• 41598_2022_7618_MOESM1_ESM.pdf

View BVdb publication page

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A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes.

Jci Insight

Lee, Winston W; Zernant, Jana J; Su, Pei-Yin PY; Nagasaki, Takayuki T; Tsang, Stephen H SH; Allikmets, Rando R

Publication Date: 2022-01-25

Variant appearance in text: ABCA4: Gly1203Arg

PubMed Link: 34874912

Variant Present in the following documents:

• jciinsight-7-156154.pdf
• jciinsight-7-156154-s174.xlsx, sheet 1

View BVdb publication page

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Retinal Pigment Epithelium Atrophy in Recessive Stargardt Disease as Measured by Short-Wavelength and Near-Infrared Autofluorescence.

Translational Vision Science & Technology

Jauregui, Ruben R; Nuzbrokh, Yan Y; Su, Pei-Yin PY; Zernant, Jana J; Allikmets, Rando R; Tsang, Stephen H SH; Sparrow, Janet R JR

Publication Date: 2021-01

Variant appearance in text: ABCA4: 3607G>A; G1203R

PubMed Link: 33505770

Variant Present in the following documents:

• tvst-10-1-3_s002.pdf

View BVdb publication page

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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: G1203R

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

View BVdb publication page

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Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Progress In Retinal And Eye Research

Cremers, Frans P M FPM; Lee, Winston W; Collin, Rob W J RWJ; Allikmets, Rando R

Publication Date: 2020-11

Variant appearance in text: ABCA4: 3607G>A

PubMed Link: 32278709

Variant Present in the following documents:

• Main text
• nihms-1627942.pdf

View BVdb publication page

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Identification of novel pathogenic ABCA4 variants in a Han Chinese family with Stargardt disease.

Bioscience Reports

Xiang, Qin Q; Cao, Yanna Y; Xu, Hongbo H; Guo, Yi Y; Yang, Zhijian Z; Xu, Lu L; Yuan, Lamei L; Deng, Hao H

Publication Date: 2019-01-31

Variant appearance in text: STGD1: 3607G>A

PubMed Link: 30563929

Variant Present in the following documents:

• Main text
• bsr-39-bsr20180872.pdf

View BVdb publication page

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ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.

Genome Research

Sangermano, Riccardo R; Khan, Mubeen M; Cornelis, Stéphanie S SS; Richelle, Valerie V; Albert, Silvia S; Garanto, Alejandro A; Elmelik, Duaa D; Qamar, Raheel R; Lugtenberg, Dorien D; van den Born, L Ingeborgh LI; Collin, Rob W J RWJ; Cremers, Frans P M FPM

Publication Date: 2018-01

Variant appearance in text: ABCA4: 3607G>A

PubMed Link: 29162642

Variant Present in the following documents:

• supp_gr.226621.117_Supplemental_Table_S4_.pdf
• supp_gr.226621.117_Supplemental_Fig_S3.pdf
• supp_gr.226621.117_Supplemental_Fig_S2_.pdf
• supp_gr.226621.117_Supplemental_Table_S2.pdf

View BVdb publication page

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Subretinal Fibrosis in Stargardt's Disease with Fundus Flavimaculatus and ABCA4 Gene Mutation.

Case Reports In Ophthalmology

Rossi, Settimio S; Testa, Francesco F; Attanasio, Marcella M; Orrico, Ada A; de Benedictis, Antonella A; Corte, Michele Della MD; Simonelli, Francesca F

Publication Date: 2012-09

Variant appearance in text: ABCA4: G1203R

PubMed Link: 23341817

Variant Present in the following documents:

• Main text
• cop-0003-0410.pdf

View BVdb publication page

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