Publications:

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Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: SCN5A: 5848G>A; Val1950Met

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

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Genetic Profile and Clinical Characteristics of Brugada Syndrome in the Chinese Population.

Journal Of Cardiovascular Development And Disease

Wang, Lin-Lin LL; Chen, Yang-Hui YH; Sun, Yang Y; Huang, Man M; Wei, Hao-Ran HR; Liu, Hao H; Xu, Ke K; Song, Xiu-Li XL; Chen, Peng P; Tan, Lun L; Huang, Jin J; Li, Zong-Zhe ZZ; Li, Rui R; Yu, Ting T; Ma, Fei F; Ding, Hu H; Wang, Yan Y; Wang, Dao-Wen DW; Wang, Hong H; Zhao, Chun-Xia CX

Publication Date: 2022-10-28

Variant appearance in text: rs41315493

PubMed Link: 36354768

Variant Present in the following documents:

• jcdd-09-00369.pdf

View BVdb publication page

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Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na 1.5).

Peerj

Lopes-Marques, Monica M; Silva, Raquel R; Serrano, Catarina C; Gomes, Verónica V; Cardoso, Ana A; Prata, Maria João MJ; Amorim, Antonio A; Azevedo, Luisa L

Publication Date: 2022

Variant appearance in text: rs41315493

PubMed Link: 35996667

Variant Present in the following documents:

• Main text
• peerj-10-13913.pdf

View BVdb publication page

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: SCN5A: 5848G>A; V1950M; rs41315493

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

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: rs41315493

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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Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts.

European Journal Of Human Genetics : Ejhg

Paludan-Müller, Christian C; Ghouse, Jonas J; Vad, Oliver B OB; Herfelt, Cecilie B CB; Lundegaard, Pia P; Ahlberg, Gustav G; Schmitt, Nicole N; Svendsen, Jesper H JH; Haunsø, Stig S; Bundgaard, Henning H; Hansen, Torben T; Kanters, Jørgen K JK; Olesen, Morten S MS

Publication Date: 2019-09

Variant appearance in text: rs41315493

PubMed Link: 31043699

Variant Present in the following documents:

• Main text

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: rs41315493

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs41315493

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

Bmc Cardiovascular Disorders

Stattin, Eva-Lena EL; Boström, Ida Maria IM; Winbo, Annika A; Cederquist, Kristina K; Jonasson, Jenni J; Jonsson, Björn-Anders BA; Diamant, Ulla-Britt UB; Jensen, Steen M SM; Rydberg, Annika A; Norberg, Anna A

Publication Date: 2012-10-25

Variant appearance in text: rs41315493

PubMed Link: 23098067

Variant Present in the following documents:

• 1471-2261-12-95-S2.pdf

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High prevalence of genetic variants previously associated with LQT syndrome in new exome data.

European Journal Of Human Genetics : Ejhg

Refsgaard, Lena L; Holst, Anders G AG; Sadjadieh, Golnaz G; Haunsø, Stig S; Nielsen, Jonas B JB; Olesen, Morten S MS

Publication Date: 2012-08

Variant appearance in text: rs41315493

PubMed Link: 22378279

Variant Present in the following documents:

• Main text
• ejhg201223a.pdf

View BVdb publication page

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