Publications:

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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: L1631P

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001G>A in Stargardt Disease.

Genes

Garanto, Alejandro A; Duijkers, Lonneke L; Tomkiewicz, Tomasz Z TZ; Collin, Rob W J RWJ

Publication Date: 2019-06-14

Variant appearance in text: ABCA4: 4892T>C

PubMed Link: 31197102

Variant Present in the following documents:

• Main text
• genes-10-00452.pdf

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Human gastric cancer modelling using organoids.

Gut

Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE

Publication Date: 2019-02

Variant appearance in text: ABCA4: 4892T>C

PubMed Link: 29703791

Variant Present in the following documents:

• gutjnl-2017-314549supp010.xlsx, sheet 1

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Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.

American Journal Of Human Genetics

Albert, Silvia S; Garanto, Alejandro A; Sangermano, Riccardo R; Khan, Mubeen M; Bax, Nathalie M NM; Hoyng, Carel B CB; Zernant, Jana J; Lee, Winston W; Allikmets, Rando R; Collin, Rob W J RWJ; Cremers, Frans P M FPM

Publication Date: 2018-04-05

Variant appearance in text: ABCA4: 4892T>C

PubMed Link: 29526278

Variant Present in the following documents:

• Main text

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: STGD1: L1631P

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ABCA4: L1631P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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