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: rs532327456

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Exome sequencing of Japanese schizophrenia multiplex families supports the involvement of calcium ion channels.

Plos One

Toyama, Miho M; Takasaki, Yuto Y; Branko, Aleksic A; Kimura, Hiroki H; Kato, Hidekazu H; Nawa, Yoshihiro Y; Kushima, Itaru I; Ishizuka, Kanako K; Shimamura, Teppei T; Ogi, Tomoo T; Ozaki, Norio N

Publication Date: 2022

Variant appearance in text: ALKBH8: R481H

PubMed Link: 35536790

Variant Present in the following documents:

• pone.0268321.s003.xlsx, sheet 1

View BVdb publication page

KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.

Bmc Medical Genetics

Kumar, Kishore K; Bellad, Anikha A; Prasad, Pramada P; Girimaji, Satish Chandra SC; Muthusamy, Babylakshmi B

Publication Date: 2020-06-26

Variant appearance in text: ALKBH8: R481H

PubMed Link: 32590954

Variant Present in the following documents:

• 12881_2020_1074_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page