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: 1789C>T

PubMed Link: 35835773

Variant Present in the following documents:

• 41525_2022_311_MOESM3_ESM.xlsx, sheet 1
• 41525_2022_311_MOESM2_ESM.xlsx, sheet 1

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NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.

Human Genetics

Perea-Romero, I I; Blanco-Kelly, F F; Sanchez-Navarro, I I; Lorda-Sanchez, I I; Tahsin-Swafiri, S S; Avila-Fernandez, A A; Martin-Merida, I I; Trujillo-Tiebas, M J MJ; Lopez-Rodriguez, R R; Rodriguez de Alba, M M; Iancu, I F IF; Romero, R R; Quinodoz, M M; Hakonarson, H H; Garcia-Sandova, Blanca B; Minguez, P P; Corton, M M; Rivolta, C C; Ayuso, C C

Publication Date: 2021-12

Variant appearance in text: BBS: 1789C>T

PubMed Link: 34448047

Variant Present in the following documents:

• 439_2021_2343_MOESM2_ESM.xlsx, sheet 3

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: BBS2: L597L

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.

Scientific Reports

Maria, Maleeha M; Lamers, Ideke J C IJ; Schmidts, Miriam M; Ajmal, Muhammad M; Jaffar, Sulman S; Ullah, Ehsan E; Mustafa, Bilal B; Ahmad, Shakeel S; Nazmutdinova, Katia K; Hoskins, Bethan B; van Wijk, Erwin E; Koster-Kamphuis, Linda L; Khan, Muhammad Imran MI; Beales, Phil L PL; Cremers, Frans P M FP; Roepman, Ronald R; Azam, Maleeha M; Arts, Heleen H HH; Qamar, Raheel R

Publication Date: 2016-10-06

Variant appearance in text: BBS: 1789C>T

PubMed Link: 27708425

Variant Present in the following documents:

• Main text

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Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.

American Journal Of Human Genetics

Lindstrand, Anna A; Davis, Erica E EE; Carvalho, Claudia M B CM; Pehlivan, Davut D; Willer, Jason R JR; Tsai, I-Chun IC; Ramanathan, Subhadra S; Zuppan, Craig C; Sabo, Aniko A; Muzny, Donna D; Gibbs, Richard R; Liu, Pengfei P; Lewis, Richard A RA; Banin, Eyal E; Lupski, James R JR; Clark, Robin R; Katsanis, Nicholas N

Publication Date: 2014-05-01

Variant appearance in text: BBS: 1789C>T

PubMed Link: 24746959

Variant Present in the following documents:

• Main text

View BVdb publication page