Publications:

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: MYH7: R787H

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Sex-specific cardiac remodeling in early and advanced stages of hypertrophic cardiomyopathy.

Plos One

Nijenkamp, Louise L A M LLAM; Bollen, Ilse A E IAE; Niessen, Hans W M HWM; Dos Remedios, Cris G CG; Michels, Michelle M; Poggesi, Corrado C; Ho, Carolyn Y CY; Kuster, Diederik W D DWD; van der Velden, Jolanda J

Publication Date: 2020

Variant appearance in text: MYH7: R787H

PubMed Link: 32369506

Variant Present in the following documents:

• Main text
• pone.0232427.pdf

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: MYH7: 2360G>A; Arg787His; rs376754645

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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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: Arg787His

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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Genetic analysis of monoallelic double MYH7 mutations responsible for familial hypertrophic cardiomyopathy.

Molecular Medicine Reports

Wang, Bo B; Wang, Jing J; Wang, Li-Feng LF; Yang, Fan F; Xu, Lei L; Li, Wen-Xia WX; He, Yang Y; Zuo, Lei L; Yang, Qian-Li QL; Shao, Hong H; Hu, Dan D; Liu, Li-Wen LW

Publication Date: 2019-12

Variant appearance in text: MYH7: R787H

PubMed Link: 31638223

Variant Present in the following documents:

• Main text
• mmr-20-06-5229.pdf

View BVdb publication page

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Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.

Circulation

Norrish, Gabrielle G; Jager, Joanna J; Field, Ella E; Quinn, Ellie E; Fell, Hannah H; Lord, Emma E; Cicerchia, Marcos N MN; Ochoa, Juan Pablo JP; Cervi, Elena E; Elliott, Perry M PM; Kaski, Juan Pablo JP

Publication Date: 2019-07-16

Variant appearance in text: MYH7: 2360G>A; Arg787His

PubMed Link: 31006259

Variant Present in the following documents:

• cir-140-184-s001.pdf

View BVdb publication page

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Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I

Publication Date: 2019-06

Variant appearance in text: MYH7: 2360G>A; Arg787His; rs376754645

PubMed Link: 30847666

Variant Present in the following documents:

• 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: MYH7: 2360G>A; Arg787His

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

View BVdb publication page

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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: rs376754645

PubMed Link: 29420653

Variant Present in the following documents:

• Main text
• pone.0192446.s009.xlsx, sheet 2

View BVdb publication page

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Phenotypic diversity identified by cardiac magnetic resonance in a large hypertrophic cardiomyopathy family with a single MYH7 mutation.

Scientific Reports

Wang, Jie J; Wan, Ke K; Sun, Jiayu J; Li, Weihao W; Liu, Hong H; Han, Yuchi Y; Chen, Yucheng Y

Publication Date: 2018-01-17

Variant appearance in text: MYH7: R787H

PubMed Link: 29343710

Variant Present in the following documents:

• Main text
• 41598_2018_Article_19372.pdf

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: 2360G>A; Arg787His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology

Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J

Publication Date: 2016-05

Variant appearance in text: MYH7: R787H

PubMed Link: 27224906

Variant Present in the following documents:

• pcbi.1004962.s005.xlsx, sheet 1
• pcbi.1004962.s004.xlsx, 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: CMH1: R787H

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: MYH7: R787H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Succinate causes pathological cardiomyocyte hypertrophy through GPR91 activation.

Cell Communication And Signaling : Ccs

Aguiar, Carla J CJ; Rocha-Franco, João A JA; Sousa, Pedro A PA; Santos, Anderson K AK; Ladeira, Marina M; Rocha-Resende, Cibele C; Ladeira, Luiz O LO; Resende, Rodrigo R RR; Botoni, Fernando A FA; Barrouin Melo, Marcos M; Lima, Cristiano X CX; Carballido, José M JM; Cunha, Thiago M TM; Menezes, Gustavo B GB; Guatimosim, Silvia S; Leite, M Fatima MF

Publication Date: 2014-12-24

Variant appearance in text: MYH7: R787H

PubMed Link: 25539979

Variant Present in the following documents:

• 12964_2014_Article_78.pdf

View BVdb publication page

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The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy.

Journal Of Medical Genetics

Liu, Zhong Z; Song, Yanrui Y; Li, Dan D; He, Xiangyu X; Li, Shishi S; Wu, Bifeng B; Wang, Wei W; Gu, Shulian S; Zhu, Xiaoyu X; Wang, Xuexiang X; Zhou, Qiyin Q; Dai, Yu Y; Yan, Qingfeng Q

Publication Date: 2014-03

Variant appearance in text: MYH7: R787H

PubMed Link: 24367055

Variant Present in the following documents:

• jmedgenet-2013-101818.pdf

View BVdb publication page

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Perturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutations.

Circulation Research

Sequeira, Vasco V; Wijnker, Paul J M PJ; Nijenkamp, Louise L A M LL; Kuster, Diederik W D DW; Najafi, Aref A; Witjas-Paalberends, E Rosalie ER; Regan, Jessica A JA; Boontje, Nicky N; Ten Cate, Folkert J FJ; Germans, Tjeerd T; Carrier, Lucie L; Sadayappan, Sakthivel S; van Slegtenhorst, Marjon A MA; Zaremba, Ruud R; Foster, D Brian DB; Murphy, Anne M AM; Poggesi, Corrado C; Dos Remedios, Cris C; Stienen, Ger J M GJ; Ho, Carolyn Y CY; Michels, Michelle M; van der Velden, Jolanda J

Publication Date: 2013-05-24

Variant appearance in text: MYH7: R787H

PubMed Link: 23508784

Variant Present in the following documents:

• Main text

View BVdb publication page

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A novel Myosin essential light chain mutation causes hypertrophic cardiomyopathy with late onset and low expressivity.

Biochemistry Research International

Andersen, Paal Skytt PS; Hedley, Paula Louise PL; Page, Stephen P SP; Syrris, Petros P; Moolman-Smook, Johanna Catharina JC; McKenna, William John WJ; Elliott, Perry Mark PM; Christiansen, Michael M

Publication Date: 2012

Variant appearance in text: MYH7: R787H

PubMed Link: 22957257

Variant Present in the following documents:

• Main text
• BCRI2012-685108.pdf

View BVdb publication page

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The MYH7 p.R787H mutation causes hypertrophic cardiomyopathy in two unrelated families.

Experimental And Clinical Cardiology

Purushotham, G G; Madhumohan, K K; Anwaruddin, Mohammad M; Nagarajaram, Ha H; Hariram, Vuppaladadhiam V; Narasimhan, Calambur C; Bashyam, Murali D MD

Publication Date: 2010

Variant appearance in text: MYH7: R787H

PubMed Link: 20664766

Variant Present in the following documents:

• Main text

View BVdb publication page

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Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy.

Bmc Medical Genetics

Rodríguez-García, María Isabel MI; Monserrat, Lorenzo L; Ortiz, Martín M; Fernández, Xusto X; Cazón, Laura L; Núñez, Lucía L; Barriales-Villa, Roberto R; Maneiro, Emilia E; Veira, Elena E; Castro-Beiras, Alfonso A; Hermida-Prieto, Manuel M

Publication Date: 2010-04-30

Variant appearance in text: MYH7: R787H

PubMed Link: 20433692

Variant Present in the following documents:

• Main text
• 1471-2350-11-67.pdf

View BVdb publication page

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Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.

Journal Of Clinical Pathology

Yu, B B; Sawyer, N A NA; Caramins, M M; Yuan, Z G ZG; Saunderson, R B RB; Pamphlett, R R; Richmond, D R DR; Jeremy, R W RW; Trent, R J RJ

Publication Date: 2005-05

Variant appearance in text: MYH7: R787H

PubMed Link: 15858117

Variant Present in the following documents:

• Main text

View BVdb publication page

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