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: HR: R1066H; rs767804552

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.

Frontiers In Genetics

Tan, Meihua M; Wang, Xinrui X; Liu, Hongjie H; Peng, Xiaoyan X; Yang, You Y; Yu, Haifei H; Xu, Liangpu L; Li, Jia J; Cao, Hua H

Publication Date: 2022

Variant appearance in text: HR: 3197G>A; R1066H

PubMed Link: 35910219

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 7

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Tele-Exercise as a Promising Tool to Promote Exercise in Children With Cystic Fibrosis.

Frontiers In Public Health

Chen, Jen Jen JJ; Cooper, Dan M DM; Haddad, Fadia F; Sladkey, Anna A; Nussbaum, Eliezer E; Radom-Aizik, Shlomit S

Publication Date: 2018

Variant appearance in text: HR: R1066H

PubMed Link: 30324099

Variant Present in the following documents:

• Main text
• fpubh-06-00269.pdf

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Feasibility, tolerability and safety of pediatric hyperpolarized 129Xe magnetic resonance imaging in healthy volunteers and children with cystic fibrosis.

Pediatric Radiology

Walkup, Laura L LL; Thomen, Robert P RP; Akinyi, Teckla G TG; Watters, Erin E; Ruppert, Kai K; Clancy, John P JP; Woods, Jason C JC; Cleveland, Zackary I ZI

Publication Date: 2016-11

Variant appearance in text: HR: R1066H

PubMed Link: 27492388

Variant Present in the following documents:

• Main text

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: HR: R1066H

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1
• NIHMS630249-supplement-5.xlsx, sheet 1

View BVdb publication page