Publications:

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.

American Journal Of Human Genetics

Lindstrand, Anna A; Frangakis, Stephan S; Carvalho, Claudia M B CM; Richardson, Ellen B EB; McFadden, Kelsey A KA; Willer, Jason R JR; Pehlivan, Davut D; Liu, Pengfei P; Pediaditakis, Igor L IL; Sabo, Aniko A; Lewis, Richard Alan RA; Banin, Eyal E; Lupski, James R JR; Davis, Erica E EE; Katsanis, Nicholas N

Publication Date: 2016-08-04

Variant appearance in text: BBS7: 87_88delCA; His29Glnfs

PubMed Link: 27486776

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: BBS7: 87_88delCA; His29Glnfs

PubMed Link: 24746959

Variant Present in the following documents:

• Main text

View BVdb publication page