Publications:

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Comparison of Genetic Profiles of Neonates in Intensive Care Units Conceived With or Without Assisted Reproductive Technology.

Jama Network Open

Huang, Zhongwen Z; Xiao, Feifan F; Xiao, Hui H; Lu, Yulan Y; Yang, Lin L; Zhuang, Deyi D; Chen, Liping L; Wei, Qiufen Q; Jiang, Yinmo Y; Li, Gang G; Wu, Bingbing B; Liu, Zhiwei Z; Zhou, Wenhao W; Wang, Huijun H

Publication Date: 2023-04-03

Variant appearance in text: MYH7: 602T>C; I201T

PubMed Link: 37014641

Variant Present in the following documents:

• jamanetwopen-e236537-s001.pdf

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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: 602T>C; Ile201Thr

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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Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification.

Circulation. Genomic And Precision Medicine

van der Meulen, Marijke H MH; Herkert, Johanna C JC; den Boer, Susanna L SL; du Marchie Sarvaas, Gideon J GJ; Blom, Nico A NA; Ten Harkel, Arend D J ADJ; Breur, Hans M P J HMPJ; Rammeloo, Lukas A J LAJ; Tanke, Ronald B RB; Marcelis, Carlo C; van de Laar, Ingrid M B H IMBH; Verhagen, Judith M A JMA; Lekanne Dit Deprez, Ronald H RH; Barge-Schaapveld, Daniela Q C M DQCM; Baas, Annette F AF; Sammani, Arjan A; Christiaans, Imke I; van Tintelen, J Peter JP; Dalinghaus, Michiel M

Publication Date: 2022-10

Variant appearance in text: MYH7: 602T>C; Ile201Thr

PubMed Link: 36178741

Variant Present in the following documents:

• hcg-15-e002981.pdf

View BVdb publication page

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Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.

Journal Of The American Heart Association

Yang, Qixin Q; Berkman, Amy M AM; Ezekian, Jordan E JE; Rosamilia, Michael M; Rosenfeld, Jill A JA; Liu, Pengfei P; Landstrom, Andrew P AP

Publication Date: 2022-10-04

Variant appearance in text: MYH7: 602T>C; I201T

PubMed Link: 36129056

Variant Present in the following documents:

• JAH3-11-e025257.pdf
• JAH3-11-e025257-s001.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: 602T>C

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.

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

Mazzarotto, Francesco F; Hawley, Megan H MH; Beltrami, Matteo M; Beekman, Leander L; de Marvao, Antonio A; McGurk, Kathryn A KA; Statton, Ben B; Boschi, Beatrice B; Girolami, Francesca F; Roberts, Angharad M AM; Lodder, Elisabeth M EM; Allouba, Mona M; Romeih, Soha S; Aguib, Yasmine Y; Baksi, A John AJ; Pantazis, Antonis A; Prasad, Sanjay K SK; Cerbai, Elisabetta E; Yacoub, Magdi H MH; O'Regan, Declan P DP; Cook, Stuart A SA; Ware, James S JS; Funke, Birgit B; Olivotto, Iacopo I; Bezzina, Connie R CR; Barton, Paul J R PJR; Walsh, Roddy R

Publication Date: 2021-05

Variant appearance in text: MYH7: 602T>C; Ile201Thr

PubMed Link: 33500567

Variant Present in the following documents:

• 41436_2020_1049_MOESM2_ESM.xlsx, sheet 2

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: MYH7: 602T>C; Ile201Thr; rs397516258

PubMed Link: 32013205

Variant Present in the following documents:

• Main text
• jcm-09-00370.pdf

View BVdb publication page

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Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Circulation

Mazzarotto, Francesco F; Tayal, Upasana U; Buchan, Rachel J RJ; Midwinter, William W; Wilk, Alicja A; Whiffin, Nicola N; Govind, Risha R; Mazaika, Erica E; de Marvao, Antonio A; Dawes, Timothy J W TJW; Felkin, Leanne E LE; Ahmad, Mian M; Theotokis, Pantazis I PI; Edwards, Elizabeth E; Ing, Alexander Y AY; Thomson, Kate L KL; Chan, Laura L H LLH; Sim, David D; Baksi, A John AJ; Pantazis, Antonis A; Roberts, Angharad M AM; Watkins, Hugh H; Funke, Birgit B; O'Regan, Declan P DP; Olivotto, Iacopo I; Barton, Paul J R PJR; Prasad, Sanjay K SK; Cook, Stuart A SA; Ware, James S JS; Walsh, Roddy R

Publication Date: 2020-02-04

Variant appearance in text: MYH7: 602T>C; I201T

PubMed Link: 31983221

Variant Present in the following documents:

• cir-141-387-s002.xlsx, sheet 6

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: MYH7: 602T>C; Ile201Thr

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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: 602T>C; Ile201Thr; rs397516258

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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Dilated cardiomyopathy myosin mutants have reduced force-generating capacity.

The Journal Of Biological Chemistry

Ujfalusi, Zoltan Z; Vera, Carlos D CD; Mijailovich, Srbolujub M SM; Svicevic, Marina M; Yu, Elizabeth Choe EC; Kawana, Masataka M; Ruppel, Kathleen M KM; Spudich, James A JA; Geeves, Michael A MA; Leinwand, Leslie A LA

Publication Date: 2018-06-08

Variant appearance in text: MYH7: I201T

PubMed Link: 29666183

Variant Present in the following documents:

• Main text

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: I201T

PubMed Link: 28606303

Variant Present in the following documents:

• Main text

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: 602T>C; Ile201Thr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Genetic Variations Leading to Familial Dilated Cardiomyopathy.

Molecules And Cells

Cho, Kae Won KW; Lee, Jongsung J; Kim, Youngjo Y

Publication Date: 2016-10

Variant appearance in text: MYH7: I201T

PubMed Link: 27802374

Variant Present in the following documents:

• Main text
• molce-39-10-722.pdf

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: I201T

PubMed Link: 27224906

Variant Present in the following documents:

• pcbi.1004962.s004.xlsx, sheet 1

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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: I201T

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: I201T

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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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: MYH7: I201T

PubMed Link: 24474197

Variant Present in the following documents:

• 13238_2013_Article_16.pdf

View BVdb publication page

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Bioinformatics assessment of beta-myosin mutations reveals myosin's high sensitivity to mutations.

Trends In Cardiovascular Medicine

Buvoli, Massimo M; Hamady, Micah M; Leinwand, Leslie A LA; Knight, Rob R

Publication Date: 2008-05

Variant appearance in text: MYH7: I201T

PubMed Link: 18555187

Variant Present in the following documents:

• Main text

View BVdb publication page

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