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: 1932T>A

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 as a diagnostic tool for patients with ciliopathy-like phenotypes.

Plos One

Castro-Sánchez, Sheila S; Álvarez-Satta, María M; Tohamy, Mohamed A MA; Beltran, Sergi S; Derdak, Sophia S; Valverde, Diana D

Publication Date: 2017

Variant appearance in text: BBS: 1932T>A

PubMed Link: 28800606

Variant Present in the following documents:

• Main text

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Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome.

Biomed Research International

Bee, Yong Mong YM; Chawla, Mayank M; Zhao, Yi Y

Publication Date: 2015

Variant appearance in text: BBS: 1932T>A

PubMed Link: 26078953

Variant Present in the following documents:

• Main text
• BMRI2015-524754.pdf

View BVdb publication page