Publications:

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: 302+4A>C

PubMed Link: 36747048

Variant Present in the following documents:

• 41588_2022_1293_MOESM3_ESM.xlsx, sheet 3

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Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.

Frontiers In Genetics

Mena, Marcela D MD; Moresco, Angélica A AA; Vidal, Sofía H SH; Aguilar-Cortes, Diana D; Obregon, María G MG; Fandiño, Adriana C AC; Sendoya, Juan M JM; Llera, Andrea S AS; Podhajcer, Osvaldo L OL

Publication Date: 2021

Variant appearance in text: ABCA4: 302+4A>C

PubMed Link: 33841504

Variant Present in the following documents:

• Data_Sheet_2.xlsx, sheet 2

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In or Out? New Insights on Exon Recognition through Splice-Site Interdependency.

International Journal Of Molecular Sciences

Khan, Mubeen M; Cornelis, Stéphanie S SS; Sangermano, Riccardo R; Post, Iris J M IJM; Groesbeek, Amber Janssen AJ; Amsu, Jan J; Gilissen, Christian C; Garanto, Alejandro A; Collin, Rob W J RWJ; Cremers, Frans P M FPM

Publication Date: 2020-03-26

Variant appearance in text: ABCA4: 302+4A>C

PubMed Link: 32225107

Variant Present in the following documents:

• Main text
• ijms-21-02300.pdf

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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: STGD1: 302+4A>C

PubMed Link: 29162642

Variant Present in the following documents:

• Main text
• supp_gr.226621.117_Supplemental_Table_S2.pdf
• supp_gr.226621.117_Supplemental_Fig_S2_.pdf
• 100.pdf
• supp_gr.226621.117_Supplemental_Table_S4_.pdf
• supp_gr.226621.117_Supplemental_Figures_and_Tables_Legends.pdf
• supp_gr.226621.117_Supplemental_Fig_S3.pdf

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Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.

Molecular Vision

Siemiatkowska, Anna M AM; Arimadyo, Kentar K; Moruz, Luminita M LM; Astuti, Galuh D N GD; de Castro-Miro, Marta M; Zonneveld, Marijke N MN; Strom, Tim M TM; de Wijs, Ilse J IJ; Hoefsloot, Lies H LH; Faradz, Sultana M H SM; Cremers, Frans P M FP; den Hollander, Anneke I AI; Collin, Rob W J RW

Publication Date: 2011

Variant appearance in text: ABCA4: 302+4A>C

PubMed Link: 22128245

Variant Present in the following documents:

• Main text
• mv-v17-3013.pdf

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