Publications:

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Frontiers In Cell And Developmental Biology

Panneman, Daan M DM; Hitti-Malin, Rebekkah J RJ; Holtes, Lara K LK; de Bruijn, Suzanne E SE; Reurink, Janine J; Boonen, Erica G M EGM; Khan, Muhammad Imran MI; Ali, Manir M; Andréasson, Sten S; De Baere, Elfride E; Banfi, Sandro S; Bauwens, Miriam M; Ben-Yosef, Tamar T; Bocquet, Béatrice B; De Bruyne, Marieke M; de la Cerda, Berta B; Coppieters, Frauke F; Farinelli, Pietro P; Guignard, Thomas T; Inglehearn, Chris F CF; Karali, Marianthi M; Kjellström, Ulrika U; Koenekoop, Robert R; de Koning, Bart B; Leroy, Bart P BP; McKibbin, Martin M; Meunier, Isabelle I; Nikopoulos, Konstantinos K; Nishiguchi, Koji M KM; Poulter, James A JA; Rivolta, Carlo C; Rodríguez de la Rúa, Enrique E; Saunders, Patrick P; Simonelli, Francesca F; Tatour, Yasmin Y; Testa, Francesco F; Thiadens, Alberta A H J AAHJ; Toomes, Carmel C; Tracewska, Anna M AM; Tran, Hoai Viet HV; Ushida, Hiroaki H; Vaclavik, Veronika V; Verhoeven, Virginie J M VJM; van de Vorst, Maartje M; Gilissen, Christian C; Hoischen, Alexander A; Cremers, Frans P M FPM; Roosing, Susanne S

Publication Date: 2023

Variant appearance in text: ABCA4: Arg785Cys

PubMed Link: 36819107

Variant Present in the following documents:

• Table4.xlsx, sheet 1

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Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.

Npj Genomic Medicine

Iancu, Ionut-Florin IF; Avila-Fernandez, Almudena A; Arteche, Ana A; Trujillo-Tiebas, Maria Jose MJ; Riveiro-Alvarez, Rosa R; Almoguera, Berta B; Martin-Merida, Inmaculada I; Del Pozo-Valero, Marta M; Perea-Romero, Irene I; Corton, Marta M; Minguez, Pablo P; Ayuso, Carmen C

Publication Date: 2021-02-23

Variant appearance in text: ABCA4: 2353C>T; Arg785Cys

PubMed Link: 33623043

Variant Present in the following documents:

• 41525_2021_182_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: R785C

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

Plos One

Eisenberger, Tobias T; Neuhaus, Christine C; Khan, Arif O AO; Decker, Christian C; Preising, Markus N MN; Friedburg, Christoph C; Bieg, Anika A; Gliem, Martin M; Charbel Issa, Peter P; Holz, Frank G FG; Baig, Shahid M SM; Hellenbroich, Yorck Y; Galvez, Alberto A; Platzer, Konrad K; Wollnik, Bernd B; Laddach, Nadja N; Ghaffari, Saeed Reza SR; Rafati, Maryam M; Botzenhart, Elke E; Tinschert, Sigrid S; Börger, Doris D; Bohring, Axel A; Schreml, Julia J; Körtge-Jung, Stefani S; Schell-Apacik, Chayim C; Bakur, Khadijah K; Al-Aama, Jumana Y JY; Neuhann, Teresa T; Herkenrath, Peter P; Nürnberg, Gudrun G; Nürnberg, Peter P; Davis, John S JS; Gal, Andreas A; Bergmann, Carsten C; Lorenz, Birgit B; Bolz, Hanno J HJ

Publication Date: 2013

Variant appearance in text: ABCA4: 2353C>T

PubMed Link: 24265693

Variant Present in the following documents:

• Main text
• pone.0078496.pdf

View BVdb publication page