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: USH2A: 11754G>A; Trp3918*

PubMed Link: 36819107

Variant Present in the following documents:

• Table4.xlsx, sheet 1

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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: USH2A: W3918X

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

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Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next‑generation sequencing.

Molecular Medicine Reports

Zhu, Xiong X; Li, Xiao X; Tian, Wanli W; Yang, Yeming Y; Sun, Kuanxiang K; Li, Shuzhen S; Zhu, Xianjun X

Publication Date: 2020-07

Variant appearance in text: USH2A: W3918*

PubMed Link: 32319668

Variant Present in the following documents:

• Main text
• Supplementary_Data.pdf
• mmr-22-01-0193.pdf

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Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.

Genome Medicine

Dharmadhikari, Avinash V AV; Ghosh, Rajarshi R; Yuan, Bo B; Liu, Pengfei P; Dai, Hongzheng H; Al Masri, Sami S; Scull, Jennifer J; Posey, Jennifer E JE; Jiang, Allen H AH; He, Weimin W; Vetrini, Francesco F; Braxton, Alicia A AA; Ward, Patricia P; Chiang, Theodore T; Qu, Chunjing C; Gu, Shen S; Shaw, Chad A CA; Smith, Janice L JL; Lalani, Seema S; Stankiewicz, Pawel P; Cheung, Sau-Wai SW; Bacino, Carlos A CA; Patel, Ankita A; Breman, Amy M AM; Wang, Xia X; Meng, Linyan L; Xiao, Rui R; Xia, Fan F; Muzny, Donna D; Gibbs, Richard A RA; Beaudet, Arthur L AL; Eng, Christine M CM; Lupski, James R JR; Yang, Yaping Y; Bi, Weimin W

Publication Date: 2019-05-17

Variant appearance in text: USH2A: 11754G>A; W3918*

PubMed Link: 31101064

Variant Present in the following documents:

• Main text
• 13073_2019_Article_639.pdf

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A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.

Scientific Reports

Ezquerra-Inchausti, Maitane M; Anasagasti, Ander A; Barandika, Olatz O; Garay-Aramburu, Gonzaga G; Galdós, Marta M; López de Munain, Adolfo A; Irigoyen, Cristina C; Ruiz-Ederra, Javier J

Publication Date: 2018-10-18

Variant appearance in text: USH2A: 11754G>A

PubMed Link: 30337596

Variant Present in the following documents:

• Main text
• 41598_2018_33810_MOESM1_ESM.pdf
• 41598_2018_Article_33810.pdf

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