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: G72R; rs572718618

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy.

Nature Genetics

Kousi, Maria M; Söylemez, Onuralp O; Ozanturk, Aysegül A; Mourtzi, Niki N; Akle, Sebastian S; Jungreis, Irwin I; Muller, Jean J; Cassa, Christopher A CA; Brand, Harrison H; Mokry, Jill Anne JA; Wolf, Maxim Y MY; Sadeghpour, Azita A; McFadden, Kelsey K; Lewis, Richard A RA; Talkowski, Michael E ME; Dollfus, Hélène H; Kellis, Manolis M; Davis, Erica E EE; Sunyaev, Shamil R SR; Katsanis, Nicholas N

Publication Date: 2020-11

Variant appearance in text: BBS7: Gly72Arg

PubMed Link: 33046855

Variant Present in the following documents:

• Main text

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: BBS7: 214G>C; Gly72Arg

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

View BVdb publication page