Publications:

---

Significance of α-Myosin Heavy Chain (MYH6) Variants in Hypoplastic Left Heart Syndrome and Related Cardiovascular Diseases.

Journal Of Cardiovascular Development And Disease

Anfinson, Melissa M; Fitts, Robert H RH; Lough, John W JW; James, Jeanne M JM; Simpson, Pippa M PM; Handler, Stephanie S SS; Mitchell, Michael E ME; Tomita-Mitchell, Aoy A

Publication Date: 2022-05-03

Variant appearance in text: MYH6: Q1065H

PubMed Link: 35621855

Variant Present in the following documents:

• jcdd-09-00144.pdf

View BVdb publication page

---

Identification of MYH6 as the potential gene for human ischaemic cardiomyopathy.

Journal Of Cellular And Molecular Medicine

Chen, Jian-Hong JH; Wang, Lei-Li LL; Tao, Lin L; Qi, Bin B; Wang, Yong Y; Guo, Yu-Jie YJ; Miao, Liu L

Publication Date: 2021-11

Variant appearance in text: MYH6: Q1065H

PubMed Link: 34697898

Variant Present in the following documents:

• Main text
• JCMM-25-10736.pdf

View BVdb publication page

---

Identification of MYH6 as the potential gene for human ischaemic cardiomyopathy.

Journal Of Cellular And Molecular Medicine

Chen, Jian-Hong JH; Wang, Lei-Li LL; Tao, Lin L; Qi, Bin B; Wang, Yong Y; Guo, Yu-Jie YJ; Miao, Liu L

Publication Date: 2021-11

Variant appearance in text: MYH6: Q1065H

PubMed Link: 34697898

Variant Present in the following documents:

• Main text
• JCMM-25-10736.pdf

View BVdb publication page

---

Genetic contributions to the expression of acquired causes of cardiac hypertrophy in non-ischemic sudden cardiac death victims.

Scientific Reports

Holmström, Lauri L; Pylkäs, Katri K; Tervasmäki, Anna A; Vähätalo, Juha J; Porvari, Katja K; Pakanen, Lasse L; Kaikkonen, Kari S KS; Perkiömäki, Juha S JS; Kiviniemi, Antti M AM; Kerkelä, Risto R; Ukkola, Olavi O; Myerburg, Robert J RJ; Huikuri, Heikki V HV; Junttila, Juhani J

Publication Date: 2021-05-27

Variant appearance in text: MYH6: Gln1065His

PubMed Link: 34045587

Variant Present in the following documents:

• Main text
• 41598_2021_Article_90693.pdf

View BVdb publication page

---

Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.

Peerj

Guelly, Christian C; Abilova, Zhannur Z; Nuralinov, Omirbek O; Panzitt, Katrin K; Akhmetova, Ainur A; Rakhimova, Saule S; Kozhamkulov, Ulan U; Kairov, Ulykbek U; Molkenov, Askhat A; Seisenova, Ainur A; Trajanoski, Slave S; Abildinova Rashbayeva, Gulzhaina G; Kaussova, Galina G; Windpassinger, Christian C; Lee, Joseph H JH; Zhumadilov, Zhaxybay Z; Bekbossynova, Makhabbat M; Akilzhanova, Ainur A

Publication Date: 2021

Variant appearance in text: MYH6: Q1065H

PubMed Link: 33552729

Variant Present in the following documents:

• peerj-09-10711-s004.xlsx, sheet 1
• peerj-09-10711-s004.xlsx, sheet 2

View BVdb publication page

---

Disease mutations in striated muscle myosins.

Biophysical Reviews

Parker, Francine F; Peckham, Michelle M

Publication Date: 2020-08

Variant appearance in text: MYH6: Gln1065His

PubMed Link: 32651905

Variant Present in the following documents:

• 12551_2020_721_MOESM1_ESM.pdf

View BVdb publication page

---

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: MYH6: 3195G>C; Gln1065His; rs267606904

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

---

Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.

Esc Heart Failure

Jääskeläinen, Pertti P; Vangipurapu, Jagadish J; Raivo, Joose J; Kuulasmaa, Teemu T; Heliö, Tiina T; Aalto-Setälä, Katriina K; Kaartinen, Maija M; Ilveskoski, Erkki E; Vanninen, Sari S; Hämäläinen, Liisa L; Melin, John J; Kokkonen, Jorma J; Nieminen, Markku S MS; , ; Laakso, Markku M; Kuusisto, Johanna J

Publication Date: 2019-04

Variant appearance in text: MYH6: 3195G>C; Gln1065His

PubMed Link: 30775854

Variant Present in the following documents:

• EHF2-6-436-s005.xlsx, sheet 1

View BVdb publication page

---

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine

Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B

Publication Date: 2019-02

Variant appearance in text: MYH6: 3195G>C; Gln1065His

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

View BVdb publication page

---

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Human Genomics

Fichna, Jakub Piotr JP; Macias, Anna A; Piechota, Marcin M; Korostyński, Michał M; Potulska-Chromik, Anna A; Redowicz, Maria Jolanta MJ; Zekanowski, Cezary C

Publication Date: 2018-07-03

Variant appearance in text: MYH6: 3195G>C; Gln1065His; rs267606904

PubMed Link: 29970176

Variant Present in the following documents:

• 40246_2018_167_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

---

Estimating the mutational load for cardiovascular diseases in Pakistani population.

Plos One

Shakeel, Muhammad M; Irfan, Muhammad M; Khan, Ishtiaq Ahmad IA

Publication Date: 2018

Variant appearance in text: rs267606904

PubMed Link: 29420653

Variant Present in the following documents:

• pone.0192446.s009.xlsx, sheet 2

View BVdb publication page

---

Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.

Oncotarget

Yu, Yan Y; Lu, Bingjian B; Lu, Weiguo W; Li, Shuang S; Li, Xiuqin X; Wang, Xinyu X; Wan, Xiaoyun X; Chen, Yaxia Y; Feng, Suwen S; Jia, Yao Y; Yang, Ru R; Tang, Fangxu F; Li, Xiong X; Zhang, Shulan S; Wang, Xinyan X; Wei, Heng H; Peng, Zhilan Z; Lu, Lin L; Zhong, Huizhen H; Zhao, Linjun L; Huang, Zhangqian Z; Lin, Lin L; Shen, Weihong W; Lu, Yan Y; Cao, Zhu Z; Zou, Jian J; Ma, Yuejiang Y; Chen, Xiaojing X; Tian, Qifang Q; Lu, Shiming S; Liu, Pengyuan P; Ma, Ding D; Xie, Xing X; Cheng, Xiaodong X

Publication Date: 2017-09-26

Variant appearance in text: MYH6: Q1065H

PubMed Link: 29088863

Variant Present in the following documents:

• oncotarget-08-75264-s003.xls, sheet 1

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: MYH6: 3195G>C; Gln1065His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.

European Heart Journal

Walsh, Roddy R; Buchan, Rachel R; Wilk, Alicja A; John, Shibu S; Felkin, Leanne E LE; Thomson, Kate L KL; Chiaw, Tang Hak TH; Loong, Calvin Chin Woon CCW; Pua, Chee Jian CJ; Raphael, Claire C; Prasad, Sanjay S; Barton, Paul J PJ; Funke, Birgit B; Watkins, Hugh H; Ware, James S JS; Cook, Stuart A SA

Publication Date: 2017-12-07

Variant appearance in text: MYH6: 3195G>C; Q1065H

PubMed Link: 28082330

Variant Present in the following documents:

• ehw603_supplementary_tables_s1_s5_s7.xlsx, sheet 2

View BVdb publication page

---

Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways.

Plos One

Sicko, Robert J RJ; Browne, Marilyn L ML; Rigler, Shannon L SL; Druschel, Charlotte M CM; Liu, Gang G; Fan, Ruzong R; Romitti, Paul A PA; Caggana, Michele M; Kay, Denise M DM; Brody, Lawrence C LC; Mills, James L JL

Publication Date: 2016

Variant appearance in text: MYH6: 3195G>C; Gln1065His; rs267606904

PubMed Link: 27788187

Variant Present in the following documents:

• Main text
• pone.0165174.pdf

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MYH6: Q1065H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

---

The sarcomeric M-region: a molecular command center for diverse cellular processes.

Biomed Research International

Hu, Li-Yen R LY; Ackermann, Maegen A MA; Kontrogianni-Konstantopoulos, Aikaterini A

Publication Date: 2015

Variant appearance in text: MYH6: Q1065H

PubMed Link: 25961035

Variant Present in the following documents:

• BMRI2015-714197.pdf

View BVdb publication page

---

Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.

Protein & Cell

Gu, Ying Y; Liu, Guang-Hui GH; Plongthongkum, Nongluk N; Benner, Christopher C; Yi, Fei F; Qu, Jing J; Suzuki, Keiichiro K; Yang, Jiping J; Zhang, Weiqi W; Li, Mo M; Montserrat, Nuria N; Crespo, Isaac I; Del Sol, Antonio A; Esteban, Concepcion Rodriguez CR; Zhang, Kun K; Izpisua Belmonte, Juan Carlos JC

Publication Date: 2014-01

Variant appearance in text: MYH6: Q1065H

PubMed Link: 24474197

Variant Present in the following documents:

• 13238_2013_16_MOESM9_ESM.pdf
• 13238_2013_Article_16.pdf
• 13238_2013_16_MOESM8_ESM.xlsx, sheet 2

View BVdb publication page

---