Publications:

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Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.

Scientific Reports

Wu, Teng-Hui TH; Peng, Jing J; Yang, Li L; Chen, Yan-Hui YH; Lu, Xiu-Lan XL; Huang, Jiao-Tian JT; You, Jie-Yu JY; Ou-Yang, Wen-Xian WX; Sun, Yue-Yu YY; Xue, Yi-Nan YN; Mao, Xiao X; Yan, Hui-Ming HM; Ren, Rong-Na RN; Xie, Jing J; Chen, Zhi-Heng ZH; Zhang, Victor-Wei VW; Lyu, Gui-Zhen GZ; He, Fang F

Publication Date: 2023-03-14

Variant appearance in text: MYH7: 2146G>A; G716R

PubMed Link: 36918699

Variant Present in the following documents:

• 41598_2023_31134_MOESM1_ESM.pdf

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: MYH7: 2146G>A; Gly716Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service.

Plos One

Trachoo, Objoon O; Yingchoncharoen, Teerapat T; Ngernsritrakul, Tawai T; Iemwimangsa, Nareenart N; Panthan, Bhakbhoom B; Klumsathian, Sommon S; Srisukh, Sasima S; Mukdadilok, Anucha A; Phusanti, Sithakom S; Charoenyingwattana, Angkana A; Chareonsirisuthigul, Takol T; Chantratita, Wasun W; Tangcharoen, Tarinee T

Publication Date: 2022

Variant appearance in text: MYH7: 2146G>A; Gly716Arg

PubMed Link: 36166435

Variant Present in the following documents:

• Main text
• pone.0267770.pdf
• pone.0267770.s001.pdf

View BVdb publication page

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Ventricular arrhythmia and sudden cardiac death in hypertrophic cardiomyopathy: From bench to bedside.

Frontiers In Cardiovascular Medicine

Shen, Hua H; Dong, Shi-Yong SY; Ren, Ming-Shi MS; Wang, Rong R

Publication Date: 2022

Variant appearance in text: MYH7: G716R

PubMed Link: 36061538

Variant Present in the following documents:

• Main text
• fcvm-09-949294.pdf

View BVdb publication page

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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: MYH7: 2146G>A

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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Myosin Heavy Chain Converter Domain Mutations Drive Early-Stage Changes in Extracellular Matrix Dynamics in Hypertrophic Cardiomyopathy.

Frontiers In Cell And Developmental Biology

Hsieh, Jeanne J; Becklin, Kelsie L KL; Givens, Sophie S; Komosa, Elizabeth R ER; Lloréns, Juan E Abrahante JEA; Kamdar, Forum F; Moriarity, Branden S BS; Webber, Beau R BR; Singh, Bhairab N BN; Ogle, Brenda M BM

Publication Date: 2022

Variant appearance in text: MYH7: G716R

PubMed Link: 35784482

Variant Present in the following documents:

• DataSheet1.pdf

View BVdb publication page

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AQUA Mutant Protein Quantification of Endomyocardial Biopsy-Sized Samples From a Patient With Hypertrophic Cardiomyopathy.

Frontiers In Cardiovascular Medicine

Becker, Edgar E; Francino, Antonio A; Pich, Andreas A; Perrot, Andreas A; Kraft, Theresia T; Radocaj, Ante A

Publication Date: 2022

Variant appearance in text: MYH7: Gly716Arg

PubMed Link: 35265683

Variant Present in the following documents:

• Main text
• fcvm-09-816330.pdf

View BVdb publication page

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Genetic Clues on Implantable Cardioverter-Defibrillator Placement in Young-Age Hypertrophic Cardiomyopathy: A Case Report of Novel MYH7 Mutation and Literature Review.

Frontiers In Cardiovascular Medicine

Li, Xing X; Tang, Jie J; Li, Jinhui J; Lin, Sha S; Wang, Tao T; Zhou, Kaiyu K; Li, Yifei Y; Hua, Yimin Y

Publication Date: 2021

Variant appearance in text: MYH7: 2146G>A; Gly716Arg

PubMed Link: 35004917

Variant Present in the following documents:

• Main text
• fcvm-08-810291.pdf

View BVdb publication page

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A 37-Year-Old Woman with Hypertrophic Cardiomyopathy with a Dual-Chamber Implantable Cardioverter-Defibrillator Requiring Percutaneous Transvenous Lead Extraction and Multidisciplinary Management.

The American Journal Of Case Reports

Dhawan, Rahul R; Khan, Faris F; Samant, Saurabhi S; Asawaeer, Majid M; Merritt Genore, HelenMari H; Erickson, Christopher C CC

Publication Date: 2021-10-22

Variant appearance in text: MYH7: G716R

PubMed Link: 34675166

Variant Present in the following documents:

• Main text
• amjcaserep-22-e932073.pdf

View BVdb publication page

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Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy.

Journal Of The American Heart Association

Puckelwartz, Megan J MJ; Pesce, Lorenzo L LL; Dellefave-Castillo, Lisa M LM; Wheeler, Matthew T MT; Pottinger, Tess D TD; Robinson, Avery C AC; Kearns, Samuel D SD; Gacita, Anthony M AM; Schoppen, Zachary J ZJ; Pan, Wenyu W; Kim, Gene G; Wilcox, Jane E JE; Anderson, Allen S AS; Ashley, Euan A EA; Day, Sharlene M SM; Cappola, Thomas T; Dorn, Gerald W GW; McNally, Elizabeth M EM

Publication Date: 2021-04-06

Variant appearance in text: N/A

PubMed Link: 33764162

Variant Present in the following documents:

View BVdb publication page

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Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.

Nature Genetics

Tadros, Rafik R; Francis, Catherine C; Xu, Xiao X; Vermeer, Alexa M C AMC; Harper, Andrew R AR; Huurman, Roy R; Kelu Bisabu, Ken K; Walsh, Roddy R; Hoorntje, Edgar T ET; Te Rijdt, Wouter P WP; Buchan, Rachel J RJ; van Velzen, Hannah G HG; van Slegtenhorst, Marjon A MA; Vermeulen, Jentien M JM; Offerhaus, Joost Allard JA; Bai, Wenjia W; de Marvao, Antonio A; Lahrouchi, Najim N; Beekman, Leander L; Karper, Jacco C JC; Veldink, Jan H JH; Kayvanpour, Elham E; Pantazis, Antonis A; Baksi, A John AJ; Whiffin, Nicola N; Mazzarotto, Francesco F; Sloane, Geraldine G; Suzuki, Hideaki H; Schneider-Luftman, Deborah D; Elliott, Paul P; Richard, Pascale P; Ader, Flavie F; Villard, Eric E; Lichtner, Peter P; Meitinger, Thomas T; Tanck, Michael W T MWT; van Tintelen, J Peter JP; Thain, Andrew A; McCarty, David D; Hegele, Robert A RA; Roberts, Jason D JD; Amyot, Julie J; Dubé, Marie-Pierre MP; Cadrin-Tourigny, Julia J; Giraldeau, Geneviève G; L'Allier, Philippe L PL; Garceau, Patrick P; Tardif, Jean-Claude JC; Boekholdt, S Matthijs SM; Lumbers, R Thomas RT; Asselbergs, Folkert W FW; Barton, Paul J R PJR; Cook, Stuart A SA; Prasad, Sanjay K SK; O'Regan, Declan P DP; van der Velden, Jolanda J; Verweij, Karin J H KJH; Talajic, Mario M; Lettre, Guillaume G; Pinto, Yigal M YM; Meder, Benjamin B; Charron, Philippe P; de Boer, Rudolf A RA; Christiaans, Imke I; Michels, Michelle M; Wilde, Arthur A M AAM; Watkins, Hugh H; Matthews, Paul M PM; Ware, James S JS; Bezzina, Connie R CR

Publication Date: 2021-02

Variant appearance in text: MYH7: 2146G>A; G716R

PubMed Link: 33495596

Variant Present in the following documents:

• EMS114661-supplement-Supplementary_Tables.xlsx, sheet 3

View BVdb publication page

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Genetic Restrictive Cardiomyopathy: Causes and Consequences-An Integrative Approach.

International Journal Of Molecular Sciences

Cimiotti, Diana D; Budde, Heidi H; Hassoun, Roua R; Jaquet, Kornelia K

Publication Date: 2021-01-08

Variant appearance in text: MYH7: G716R

PubMed Link: 33429969

Variant Present in the following documents:

• Main text
• ijms-22-00558.pdf

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: MYH7: 2146G>A; G716R

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: MYH7: 2146G>A

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

View BVdb publication page

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Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing.

Journal Of Clinical Medicine

Magrì, Damiano D; Mastromarino, Vittoria V; Gallo, Giovanna G; Zachara, Elisabetta E; Re, Federica F; Agostoni, Piergiuseppe P; Giordano, Dario D; Rubattu, Speranza S; Forte, Maurizio M; Cotugno, Maria M; Torrisi, Maria Rosaria MR; Petrucci, Simona S; Germani, Aldo A; Savio, Camilla C; Maruotti, Antonello A; Volpe, Massimo M; Autore, Camillo C; Piane, Maria M; Musumeci, Beatrice B

Publication Date: 2020-05-28

Variant appearance in text: MYH7: Gly716Arg

PubMed Link: 32481709

Variant Present in the following documents:

• Main text
• jcm-09-01636.pdf

View BVdb publication page

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Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes.

Journal Of Clinical Medicine

Franaszczyk, Maria M; Truszkowska, Grazyna G; Chmielewski, Przemyslaw P; Rydzanicz, Malgorzata M; Kosinska, Joanna J; Rywik, Tomasz T; Biernacka, Anna A; Spiewak, Mateusz M; Kostrzewa, Grazyna G; Stepien-Wojno, Malgorzata M; Stawinski, Piotr P; Bilinska, Maria M; Krajewski, Pawel P; Zielinski, Tomasz T; Lutynska, Anna A; Bilinska, Zofia T ZT; Ploski, Rafal R

Publication Date: 2020-01-29

Variant appearance in text: N/A

PubMed Link: 32013205

Variant Present in the following documents:

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: MYH7: 2146G>A; G716R

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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: 2146G>A; Gly716Arg

PubMed Link: 31783775

Variant Present in the following documents:

• 13073_2019_683_MOESM2_ESM.xlsx, sheet 6
• 13073_2019_683_MOESM2_ESM.xlsx, sheet 7

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: 2146G>A; G716R

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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Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.

Genome Medicine

Walsh, Roddy R; Mazzarotto, Francesco F; Whiffin, Nicola N; Buchan, Rachel R; Midwinter, William W; Wilk, Alicja A; Li, Nicholas N; Felkin, Leanne L; Ingold, Nathan N; Govind, Risha R; Ahmad, Mian M; Mazaika, Erica E; Allouba, Mona M; Zhang, Xiaolei X; de Marvao, Antonio A; Day, Sharlene M SM; Ashley, Euan E; Colan, Steven D SD; Michels, Michelle M; Pereira, Alexandre C AC; Jacoby, Daniel D; Ho, Carolyn Y CY; Thomson, Kate L KL; Watkins, Hugh H; Barton, Paul J R PJR; Olivotto, Iacopo I; Cook, Stuart A SA; Ware, James S JS

Publication Date: 2019-01-29

Variant appearance in text: MYH7: 2146G>A; G716R

PubMed Link: 30696458

Variant Present in the following documents:

• 13073_2019_616_MOESM1_ESM.xlsx, sheet 6

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: 2146G>A; Gly716Arg

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

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: MYH7: G716R; rs121913638

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Perspectives on current recommendations for genetic testing in HCM.

Global Cardiology Science & Practice

Monserrat, Lorenzo L

Publication Date: 2018-08-12

Variant appearance in text: MYH7: Gly716Arg

PubMed Link: 30393635

Variant Present in the following documents:

• Main text
• gcsp-2018-3-e201823.pdf

View BVdb publication page

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Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies.

Journal Of Translational Medicine

Lu, Chaoxia C; Wu, Wei W; Liu, Fang F; Yang, Kunqi K; Li, Jiacheng J; Liu, Yaping Y; Wang, Rongrong R; Si, Nuo N; Gao, Peng P; Liu, Yongtai Y; Zhang, Shuyang S; Zhang, Xue X

Publication Date: 2018-08-30

Variant appearance in text: MYH7: 2146G>A; Gly716Arg

PubMed Link: 30165862

Variant Present in the following documents:

• Main text
• 12967_2018_Article_1605.pdf
• 12967_2018_1605_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes.

Human Mutation

Ceyhan-Birsoy, Ozge O; Miatkowski, Maya M MM; Hynes, Elizabeth E; Funke, Birgit H BH; Mason-Suares, Heather H

Publication Date: 2018-07

Variant appearance in text: MYH7: 2146G>A; Gly716Arg

PubMed Link: 29696744

Variant Present in the following documents:

• Main text

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: Gly716Arg

PubMed Link: 29343710

Variant Present in the following documents:

• Main text
• 41598_2018_Article_19372.pdf

View BVdb publication page

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Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.

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

Kelly, Melissa A MA; Caleshu, Colleen C; Morales, Ana A; Buchan, Jillian J; Wolf, Zena Z; Harrison, Steven M SM; Cook, Stuart S; Dillon, Mitchell W MW; Garcia, John J; Haverfield, Eden E; Jongbloed, Jan D H JDH; Macaya, Daniela D; Manrai, Arjun A; Orland, Kate K; Richard, Gabriele G; Spoonamore, Katherine K; Thomas, Matthew M; Thomson, Kate K; Vincent, Lisa M LM; Walsh, Roddy R; Watkins, Hugh H; Whiffin, Nicola N; Ingles, Jodie J; van Tintelen, J Peter JP; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray R; Funke, Birgit B

Publication Date: 2018-03

Variant appearance in text: N/A

PubMed Link: 29300372

Variant Present in the following documents:

View BVdb publication page

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Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy.

Journal Of Muscle Research And Cell Motility

Montag, Judith J; Syring, Mandy M; Rose, Julia J; Weber, Anna-Lena AL; Ernstberger, Pia P; Mayer, Anne-Kathrin AK; Becker, Edgar E; Keyser, Britta B; Dos Remedios, Cristobal C; Perrot, Andreas A; van der Velden, Jolanda J; Francino, Antonio A; Navarro-Lopez, Francesco F; Ho, Carolyn Yung CY; Brenner, Bernhard B; Kraft, Theresia T

Publication Date: 2017-08

Variant appearance in text: MYH7: 2146G>A; G716R

PubMed Link: 29101517

Variant Present in the following documents:

• Main text
• 10974_2017_Article_9486.pdf

View BVdb publication page

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Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

Plos One

Mademont-Soler, Irene I; Mates, Jesus J; Yotti, Raquel R; Espinosa, Maria Angeles MA; Pérez-Serra, Alexandra A; Fernandez-Avila, Ana Isabel AI; Coll, Monica M; Méndez, Irene I; Iglesias, Anna A; Del Olmo, Bernat B; Riuró, Helena H; Cuenca, Sofía S; Allegue, Catarina C; Campuzano, Oscar O; Picó, Ferran F; Ferrer-Costa, Carles C; Álvarez, Patricia P; Castillo, Sergio S; Garcia-Pavia, Pablo P; Gonzalez-Lopez, Esther E; Padron-Barthe, Laura L; Díaz de Bustamante, Aranzazu A; Darnaude, María Teresa MT; González-Hevia, José Ignacio JI; Brugada, Josep J; Fernandez-Aviles, Francisco F; Brugada, Ramon R

Publication Date: 2017

Variant appearance in text: MYH7: 2146G>A; G716R; rs121913638

PubMed Link: 28771489

Variant Present in the following documents:

• pone.0181465.s002.xlsx, sheet 1

View BVdb publication page

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Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

Elife

Alamo, Lorenzo L; Ware, James S JS; Pinto, Antonio A; Gillilan, Richard E RE; Seidman, Jonathan G JG; Seidman, Christine E CE; Padrón, Raúl R

Publication Date: 2017-06-13

Variant appearance in text: MYH7: G716R

PubMed Link: 28606303

Variant Present in the following documents:

• Main text
• elife-24634.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: 2146G>A; Gly716Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.

Genome Medicine

Kobayashi, Yuya Y; Yang, Shan S; Nykamp, Keith K; Garcia, John J; Lincoln, Stephen E SE; Topper, Scott E SE

Publication Date: 2017-02-06

Variant appearance in text: MYH7: 2146G>A; Gly716Arg

PubMed Link: 28166811

Variant Present in the following documents:

• Main text
• 13073_2017_Article_403.pdf

View BVdb publication page

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Recent Advances in the Molecular Genetics of Familial Hypertrophic Cardiomyopathy in South Asian Descendants.

Frontiers In Physiology

Kraker, Jessica J; Viswanathan, Shiv Kumar SK; Knöll, Ralph R; Sadayappan, Sakthivel S

Publication Date: 2016

Variant appearance in text: MYH7: 2146G>A; Gly716Arg; rs121913638

PubMed Link: 27840609

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.

International Journal Of Molecular Sciences

Rubattu, Speranza S; Bozzao, Cristina C; Pennacchini, Ermelinda E; Pagannone, Erika E; Musumeci, Beatrice Maria BM; Piane, Maria M; Germani, Aldo A; Savio, Camilla C; Francia, Pietro P; Volpe, Massimo M; Autore, Camillo C; Chessa, Luciana L

Publication Date: 2016-07-30

Variant appearance in text: MYH7: Gly716Arg; rs121913638

PubMed Link: 27483260

Variant Present in the following documents:

• Main text
• ijms-17-01239.pdf

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: G716R

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: G716R

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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Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.

Heart (British Cardiac Society)

García-Giustiniani, Diego D; Arad, Michael M; Ortíz-Genga, Martín M; Barriales-Villa, Roberto R; Fernández, Xusto X; Rodríguez-García, Isabel I; Mazzanti, Andrea A; Veira, Elena E; Maneiro, Emilia E; Rebolo, Paula P; Lesende, Iván I; Cazón, Laura L; Freimark, Dov D; Gimeno-Blanes, Juan Ramón JR; Seidman, Christine C; Seidman, Jonathan J; McKenna, William W; Monserrat, Lorenzo L

Publication Date: 2015-07

Variant appearance in text: N/A

PubMed Link: 25935763

Variant Present in the following documents:

View BVdb publication page

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Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Genome Medicine

Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA

Publication Date: 2015

Variant appearance in text: MYH7: 2146G>A

PubMed Link: 25649125

Variant Present in the following documents:

• 13073_2014_120_MOESM1_ESM.pdf

View BVdb publication page

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Genetics of hypertrophic cardiomyopathy: advances and pitfalls in molecular diagnosis and therapy.

The Application Of Clinical Genetics

Roma-Rodrigues, Catarina C; Fernandes, Alexandra R AR

Publication Date: 2014

Variant appearance in text: MYH7: G716R

PubMed Link: 25328416

Variant Present in the following documents:

• Main text
• tacg-7-195.pdf

View BVdb publication page

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Impact of systolic dysfunction in genotyped hypertrophic cardiomyopathy.

Clinical Cardiology

Fujino, Noboru N; Konno, Tetsuo T; Hayashi, Kenshi K; Hodatsu, Akihiko A; Fujita, Takashi T; Tsuda, Toyonobu T; Nagata, Yoji Y; Kawashiri, Masa-aki MA; Ino, Hidekazu H; Yamagishi, Masakazu M

Publication Date: 2013-03

Variant appearance in text: MYH7: Gly716Arg

PubMed Link: 23197398

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy.

Circulation

Landstrom, Andrew P AP; Ackerman, Michael J MJ

Publication Date: 2010-12-07

Variant appearance in text: MYH7: G716R

PubMed Link: 21135372

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics of hypertrophic cardiomyopathy.

Current Opinion In Cardiology

Konno, Tetsuo T; Chang, Stephen S; Seidman, Jonathan G JG; Seidman, Christine E CE

Publication Date: 2010-05

Variant appearance in text: MYH7: G716R

PubMed Link: 20124998

Variant Present in the following documents:

• Main text

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Clinical utility of genetic tests for inherited hypertrophic and dilated cardiomyopathies.

Cardiovascular Ultrasound

Colombo, Maria Giovanna MG; Botto, Nicoletta N; Vittorini, Simona S; Paradossi, Umberto U; Andreassi, Maria Grazia MG

Publication Date: 2008-12-19

Variant appearance in text: MYH7: G716R

PubMed Link: 19099557

Variant Present in the following documents:

• Main text
• 1476-7120-6-62.pdf

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