Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: BBS7: S574C; rs765782762

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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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: BBS7: S574C

PubMed Link: 20177705

Variant Present in the following documents:

• Main text

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