Publications:

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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: rs3824874

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Pleiotropic predisposition to Alzheimer's disease and educational attainment: insights from the summary statistics analysis.

Geroscience

Kulminski, Alexander M AM; Loiko, Elena E; Loika, Yury Y; Culminskaya, Irina I

Publication Date: 2022-02

Variant appearance in text: rs3824874

PubMed Link: 34743297

Variant Present in the following documents:

• Main text
• 11357_2021_Article_484.pdf

View BVdb publication page

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Pleiotropic predisposition to Alzheimer's disease and educational attainment: insights from the summary statistics analysis.

Geroscience

Kulminski, Alexander M AM; Loiko, Elena E; Loika, Yury Y; Culminskaya, Irina I

Publication Date: 2021-11-06

Variant appearance in text: rs3824874

PubMed Link: 34743297

Variant Present in the following documents:

• Main text
• 11357_2021_Article_484.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs3824874

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs3824874

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs3824874

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.

Orphanet Journal Of Rare Diseases

Kim, Hyeon Jin HJ; Hong, Young Bin YB; Park, Jin-Mo JM; Choi, Yu-Ri YR; Kim, Ye Jin YJ; Yoon, Bo Ram BR; Koo, Heasoo H; Yoo, Jeong Hyun JH; Kim, Sang Beom SB; Park, Minhwa M; Chung, Ki Wha KW; Choi, Byung-Ok BO

Publication Date: 2013-07-12

Variant appearance in text: rs3824874

PubMed Link: 23844677

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs3824874

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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