Publications:

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.

Npj Genomic Medicine

Perea-Romero, Irene I; Solarat, Carlos C; Blanco-Kelly, Fiona F; Sanchez-Navarro, Iker I; Bea-Mascato, Brais B; Martin-Salazar, Eduardo E; Lorda-Sanchez, Isabel I; Swafiri, Saoud Tahsin ST; Avila-Fernandez, Almudena A; Martin-Merida, Inmaculada I; Trujillo-Tiebas, Maria Jose MJ; Carreño, Ester E; Jimenez-Rolando, Belen B; Garcia-Sandoval, Blanca B; Minguez, Pablo P; Corton, Marta M; Valverde, Diana D; Ayuso, Carmen C

Publication Date: 2022-07-14

Variant appearance in text: BBS: 471G>A; Thr157=

PubMed Link: 35835773

Variant Present in the following documents:

• 41525_2022_311_MOESM4_ESM.xlsx, sheet 1
• 41525_2022_311_MOESM2_ESM.xlsx, sheet 1

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Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies.

Scientific Reports

Rehman, Atta Ur AU; Sepahi, Neda N; Bedoni, Nicola N; Ravesh, Zeinab Z; Salmaninejad, Arash A; Cancellieri, Francesca F; Peter, Virginie G VG; Quinodoz, Mathieu M; Mojarrad, Majid M; Pasdar, Alireza A; Asad, Ali Ghanbari AG; Ghalamkari, Saman S; Piran, Mehran M; Piran, Mehrdad M; Superti-Furga, Andrea A; Rivolta, Carlo C

Publication Date: 2021-09-29

Variant appearance in text: BBS2: 471G>A; Thr157=

PubMed Link: 34588515

Variant Present in the following documents:

• 41598_2021_Article_98677.pdf

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: BBS2: 471G>A; Thr157Thr; rs749983428

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.

Scientific Reports

Sanchez-Navarro, Iker I; R J da Silva, Luciana L; Blanco-Kelly, Fiona F; Zurita, Olga O; Sanchez-Bolivar, Noelia N; Villaverde, Cristina C; Lopez-Molina, Maria Isabel MI; Garcia-Sandoval, Blanca B; Tahsin-Swafiri, Saoud S; Minguez, Pablo P; Riveiro-Alvarez, Rosa R; Lorda, Isabel I; Sanchez-Alcudia, Rocío R; Perez-Carro, Raquel R; Valverde, Diana D; Liu, Yichuan Y; Tian, Lifeng L; Hakonarson, Hakon H; Avila-Fernandez, Almudena A; Corton, Marta M; Ayuso, Carmen C

Publication Date: 2018-03-27

Variant appearance in text: BBS2: 471G>A

PubMed Link: 29588463

Variant Present in the following documents:

• Main text
• 41598_2018_Article_23520.pdf

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Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.

Human Genetics

Wang, Feng F; Wang, Hui H; Tuan, Han-Fang HF; Nguyen, Duy H DH; Sun, Vincent V; Keser, Vafa V; Bowne, Sara J SJ; Sullivan, Lori S LS; Luo, Hongrong H; Zhao, Ling L; Wang, Xia X; Zaneveld, Jacques E JE; Salvo, Jason S JS; Siddiqui, Sorath S; Mao, Louise L; Wheaton, Dianna K DK; Birch, David G DG; Branham, Kari E KE; Heckenlively, John R JR; Wen, Cindy C; Flagg, Ken K; Ferreyra, Henry H; Pei, Jacqueline J; Khan, Ayesha A; Ren, Huanan H; Wang, Keqing K; Lopez, Irma I; Qamar, Raheel R; Zenteno, Juan C JC; Ayala-Ramirez, Raul R; Buentello-Volante, Beatriz B; Fu, Qing Q; Simpson, David A DA; Li, Yumei Y; Sui, Ruifang R; Silvestri, Giuliana G; Daiger, Stephen P SP; Koenekoop, Robert K RK; Zhang, Kang K; Chen, Rui R

Publication Date: 2014-03

Variant appearance in text: BBS2: 471G>A

PubMed Link: 24154662

Variant Present in the following documents:

• Main text

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