Publications:

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A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.

American Journal Of Human Genetics

Kingsmore, Stephen F SF; Smith, Laurie D LD; Kunard, Chris M CM; Bainbridge, Matthew M; Batalov, Sergey S; Benson, Wendy W; Blincow, Eric E; Caylor, Sara S; Chambers, Christina C; Del Angel, Guillermo G; Dimmock, David P DP; Ding, Yan Y; Ellsworth, Katarzyna K; Feigenbaum, Annette A; Frise, Erwin E; Green, Robert C RC; Guidugli, Lucia L; Hall, Kevin P KP; Hansen, Christian C; Hobbs, Charlotte A CA; Kahn, Scott D SD; Kiel, Mark M; Van Der Kraan, Lucita L; Krilow, Chad C; Kwon, Yong H YH; Madhavrao, Lakshminarasimha L; Le, Jennie J; Lefebvre, Sebastien S; Mardach, Rebecca R; Mowrey, William R WR; Oh, Danny D; Owen, Mallory J MJ; Powley, George G; Scharer, Gunter G; Shelnutt, Seth S; Tokita, Mari M; Mehtalia, Shyamal S SS; Oriol, Albert A; Papadopoulos, Stavros S; Perry, James J; Rosales, Edwin E; Sanford, Erica E; Schwartz, Steve S; Tran, Duke D; Reese, Martin G MG; Wright, Meredith M; Veeraraghavan, Narayanan N; Wigby, Kristen K; Willis, Mary J MJ; Wolen, Aaron R AR; Defay, Thomas T

Publication Date: 2022-09-01

Variant appearance in text: SCN5A: 4928G>A; Arg1643His

PubMed Link: 36007526

Variant Present in the following documents:

• mmc2.xlsx, sheet 8

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: rs28937316

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: SCN5A: R1643H; rs28937316

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs28937316

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine

Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA

Publication Date: 2017-05-24

Variant appearance in text: SCN5A: R1643H

PubMed Link: 28539123

Variant Present in the following documents:

• 13073_2017_434_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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High prevalence of TP53 mutations is associated with poor survival and an EMT signature in gliosarcoma patients.

Experimental & Molecular Medicine

Cho, Sung-Yup SY; Park, Changho C; Na, Deukchae D; Han, Jee Yun JY; Lee, Jieun J; Park, Ok-Kyoung OK; Zhang, Chengsheng C; Sung, Chang Ohk CO; Moon, Hyo Eun HE; Kim, Yona Y; Kim, Jeong Hoon JH; Kim, Jong Jae JJ; Khang, Shin Kwang SK; Nam, Do-Hyun DH; Choi, Jung Won JW; Suh, Yeon-Lim YL; Kim, Dong Gyu DG; Park, Sung Hye SH; Youn, Hyewon H; Yun, Kyuson K; Kim, Jong-Il JI; Lee, Charles C; Paek, Sun Ha SH; Park, Hansoo H

Publication Date: 2017-04-14

Variant appearance in text: rs28937316

PubMed Link: 28408749

Variant Present in the following documents:

• emm20179x1.xlsx, sheet 4

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: rs28937316

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).

Genomic Medicine

Sudandiradoss, C C; Sethumadhavan, Rao R

Publication Date: 2008-12

Variant appearance in text: rs28937316

PubMed Link: 19214780

Variant Present in the following documents:

• Main text

View BVdb publication page

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