Publications:

Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

Human Genetics

Janssen, Sabine S; Ramaswami, Gokul G; Davis, Erica E EE; Hurd, Toby T; Airik, Rannar R; Kasanuki, Jennifer M JM; Van Der Kraak, Lauren L; Allen, Susan J SJ; Beales, Philip L PL; Katsanis, Nicholas N; Otto, Edgar A EA; Hildebrandt, Friedhelm F

Publication Date: 2011-01

Variant appearance in text: BBS: 504delG

PubMed Link: 21052717

Variant Present in the following documents:

• Main text

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Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

Human Genetics

Muller, Jean J; Stoetzel, C C; Vincent, M C MC; Leitch, C C CC; Laurier, V V; Danse, J M JM; Hellé, S S; Marion, V V; Bennouna-Greene, V V; Vicaire, S S; Megarbane, A A; Kaplan, J J; Drouin-Garraud, V V; Hamdani, M M; Sigaudy, S S; Francannet, C C; Roume, J J; Bitoun, P P; Goldenberg, A A; Philip, N N; Odent, S S; Green, J J; Cossée, M M; Davis, E E EE; Katsanis, N N; Bonneau, D D; Verloes, A A; Poch, O O; Mandel, J L JL; Dollfus, H H

Publication Date: 2010-03

Variant appearance in text: BBS: 504delG

PubMed Link: 20177705

Variant Present in the following documents:

• Main text

View BVdb publication page