Publications:

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Lineage-specific regulatory changes in hypertrophic cardiomyopathy unraveled by single-nucleus RNA-seq and spatial transcriptomics.

Cell Discovery

Liu, Xuanyu X; Yin, Kunlun K; Chen, Liang L; Chen, Wen W; Li, Wenke W; Zhang, Taojun T; Sun, Yang Y; Yuan, Meng M; Wang, Hongyue H; Song, Yunhu Y; Wang, Shuiyun S; Hu, Shengshou S; Zhou, Zhou Z

Publication Date: 2023-01-17

Variant appearance in text: MYH7: 5704G>C; Glu1902Gln

PubMed Link: 36646705

Variant Present in the following documents:

• 41421_2022_490_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel.

Orphanet Journal Of Rare Diseases

Chen, Jia J; Li, Hong H; Guo, Sicheng S; Yang, Zhe Z; Sun, Shaoping S; Zeng, JunJie J; Gou, Hongjuan H; Chen, Yechang Y; Wang, Feng F; Lin, Yanping Y; Huang, Kun K; Yue, Hong H; Ma, Yuting Y; Lin, Yubi Y

Publication Date: 2022-10-27

Variant appearance in text: MYH7: E1902Q; rs187073962

PubMed Link: 36303204

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2542.pdf

View BVdb publication page

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Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.

Eclinicalmedicine

Chan, Wenxiu W; Yang, Shiwei S; Wang, Jian J; Tong, Shilu S; Lin, Minyin M; Lu, Pengtao P; Yao, Ruen R; Wu, Lanping L; Chen, Lijun L; Guo, Ying Y; Shen, Jie J; Liu, Tingliang T; Li, Fen F; Chen, Huiwen H; Zhang, Hao H; Wang, Shushui S; Fu, Lijun L

Publication Date: 2022-07

Variant appearance in text: MYH7: 5704G>C; Glu1902Gln

PubMed Link: 35747179

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Case Report: Identification of Mutations in LAMP2 in Two Chinese Infants With Danon Disease.

Frontiers In Genetics

Zhang, Luyan L; Yang, Fan F; Chen, Mei M; Zhou, Ming M; Qian, Tianwei T; Mujtaba, Mohammed Omer MO; Mohammed, Abdul Haseeb AH; Yin, Jie J; Cheng, Xueying X; Chen, Jinlong J; Qin, Yuming Y; Yang, Shiwei S

Publication Date: 2020

Variant appearance in text: MYH7: 5704G>C; Glu1902Gln

PubMed Link: 33505424

Variant Present in the following documents:

• Main text
• fgene-11-589838.pdf

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Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients.

Circulation. Genomic And Precision Medicine

Pua, Chee Jian CJ; Tham, Nevin N; Chin, Calvin W L CWL; Walsh, Roddy R; Khor, Chiea Chuen CC; Toepfer, Christopher N CN; Repetti, Giuliana G GG; Garfinkel, Amanda C AC; Ewoldt, Jourdan F JF; Cloonan, Paige P; Chen, Christopher S CS; Lim, Shi Qi SQ; Cai, Jiashen J; Loo, Li Yang LY; Kong, Siew Ching SC; Chiang, Charleston W K CWK; Whiffin, Nicola N; de Marvao, Antonio A; Lio, Pei Min PM; Hii, An An AA; Yang, Cheng Xi CX; Le, Thu Thao TT; Bylstra, Yasmin Y; Lim, Weng Khong WK; Teo, Jing Xian JX; Padilha, Kallyandra K; Silva, Gabriela V GV; Pan, Bangfen B; Govind, Risha R; Buchan, Rachel J RJ; Barton, Paul J R PJR; Tan, Patrick P; Foo, Roger R; Yip, James W L JWL; Wong, Raymond C C RCC; Chan, Wan Xian WX; Pereira, Alexandre C AC; Tang, Hak Chiaw HC; Jamuar, Saumya Shekhar SS; Ware, James S JS; Seidman, Jonathan G JG; Seidman, Christine E CE; Cook, Stuart A SA

Publication Date: 2020-10

Variant appearance in text: MYH7: 5704G>C; E1902Q

PubMed Link: 32815737

Variant Present in the following documents:

• hcg-13-424-s001.pdf

View BVdb publication page

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Disease mutations in striated muscle myosins.

Biophysical Reviews

Parker, Francine F; Peckham, Michelle M

Publication Date: 2020-08

Variant appearance in text: MYH7: Glu1902Gln

PubMed Link: 32651905

Variant Present in the following documents:

• 12551_2020_721_MOESM1_ESM.pdf

View BVdb publication page

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Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine

Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS

Publication Date: 2019-11-29

Variant appearance in text: MYH7: 5704G>C; Glu1902Gln

PubMed Link: 31783775

Variant Present in the following documents:

• 13073_2019_683_MOESM2_ESM.xlsx, sheet 6

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: MYH7: 5704G>C; E1902Q

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Mechanisms Contribute to the Development of Heart Failure in Patients with Atrioventricular Block and Right Ventricular Apical Pacing.

Scientific Reports

Liu, Nana N; Zheng, Min M; Li, Shijie S; Bai, Hui H; Liu, Zhouying Z; Hou, Cui Hong CH; Zhang, Shu S; Pu, Jielin J

Publication Date: 2017-09-06

Variant appearance in text: MYH7: Glu1902Gln

PubMed Link: 28878402

Variant Present in the following documents:

• Main text
• 41598_2017_Article_11211.pdf

View BVdb publication page

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Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ

Publication Date: 2017-07-14

Variant appearance in text: MYH7: E1902Q

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x5.xls, sheet 1
• emm2017142x4.xls, sheet 1

View BVdb publication page

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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: MYH7: 5704G>C; Glu1902Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Population-based variation in cardiomyopathy genes.

Circulation. Cardiovascular Genetics

Golbus, Jessica R JR; Puckelwartz, Megan J MJ; Fahrenbach, John P JP; Dellefave-Castillo, Lisa M LM; Wolfgeher, Don D; McNally, Elizabeth M EM

Publication Date: 2012-08-01

Variant appearance in text: MYH7: E1902Q

PubMed Link: 22763267

Variant Present in the following documents:

• Main text

View BVdb publication page

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