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: rs199939739

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: rs199939739

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 1
• mmc5.xlsx, sheet 3

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Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion.

Clinical Orthopaedics And Related Research

Quiggle, Ashley A; Charng, Wu-Lin WL; Antunes, Lilian L; Nikolov, Momchil M; Bledsoe, Xavier X; Hecht, Jacqueline T JT; Dobbs, Matthew B MB; Gurnett, Christina A CA

Publication Date: 2022-02-01

Variant appearance in text: rs199939739

PubMed Link: 34491919

Variant Present in the following documents:

• Main text
• abjs-480-421.pdf

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Exome sequencing analysis identifies frequent oligogenic involvement and FLNB variants in adolescent idiopathic scoliosis.

Journal Of Medical Genetics

Jiang, Heng H; Liang, Shulun S; He, Kai K; Hu, Jinghua J; Xu, Enjie E; Lin, Tao T; Meng, Yichen Y; Zhao, Jianquan J; Ma, Jun J; Gao, Rui R; Wang, Ce C; Yang, Fu F; Zhou, Xuhui X

Publication Date: 2020-06

Variant appearance in text: FLNB: T2166M; rs199939739

PubMed Link: 32381728

Variant Present in the following documents:

• Main text
• jmedgenet-2019-106411.pdf

View BVdb publication page