Publications:

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Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.

Medrxiv : The Preprint Server For Health Sciences

Abul-Husn, Noura S NS; Marathe, Priya N PN; Kelly, Nicole R NR; Bonini, Katherine E KE; Sebastin, Monisha M; Odgis, Jacqueline A JA; Abhyankar, Avinash A; Brown, Kaitlyn K; Di Biase, Miranda M; Gallagher, Katie M KM; Guha, Saurav S; Ioele, Nicolette N; Okur, Volkan V; Ramos, Michelle A MA; Rodriguez, Jessica E JE; Rehman, Atteeq U AU; Thomas-Wilson, Amanda A; Edelmann, Lisa L; Zinberg, Randi E RE; Diaz, George A GA; Greally, John M JM; Jobanputra, Vaidehi V; Suckiel, Sabrina A SA; Horowitz, Carol R CR; Wasserstein, Melissa P MP; Kenny, Eimear E EE; Gelb, Bruce D BD

Publication Date: 2023-03-20

Variant appearance in text: MYH7: 732+1G>A

PubMed Link: 36993157

Variant Present in the following documents:

• media-4.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: 732+1G>A

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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A Splice Variant of the <i>MYH7</i> Gene Is Causative in a Family with Isolated Left Ventricular Noncompaction Cardiomyopathy.

Genes

Myasnikov, Roman P RP; Kulikova, Olga V OV; Meshkov, Alexey N AN; Bukaeva, Anna A AA; Kiseleva, Anna V AV; Ershova, Alexandra I AI; Petukhova, Anna V AV; Divashuk, Mikhail G MG; Zotova, Evgenia D ED; Sotnikova, Evgeniia A EA; Abisheva, Alexandra A AA; Muraveva, Alisa V AV; Koretskiy, Sergey N SN; Popov, Sergey V SV; Utkina, Marina V MV; Snigir, Ekaterina A EA; Mitrofanov, Sergey I SI; Konureeva, Ksenia D KD; Mershina, Elena A EA; Sinitsyn, Valentin E VE; Yudin, Sergey M SM; Drapkina, Oxana M OM

Publication Date: 2022-09-28

Variant appearance in text: MYH7: 732+1G>A

PubMed Link: 36292635

Variant Present in the following documents:

• genes-13-01750.pdf

View BVdb publication page

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Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.

Human Reproduction (Oxford, England)

van Dijk, Wanwisa W; Derks, Kasper K; Drüsedau, Marion M; Meekels, Jeroen J; Koeck, Rebekka R; Essers, Rick R; Dreesen, Joseph J; Coonen, Edith E; de Die-Smulders, Christine C; Stevens, Servi J C SJC; Brunner, Han G HG; van den Wijngaard, Arthur A; Paulussen, Aimée D C ADC; Zamani Esteki, Masoud M

Publication Date: 2022-10-31

Variant appearance in text: MYH7: 732+1G>A

PubMed Link: 36149256

Variant Present in the following documents:

• deac208_supplementary_table_sii.xlsx, sheet 1

View BVdb publication page

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Left Ventricular Noncompaction in Children: The Role of Genetics, Morphology, and Function for Outcome.

Journal Of Cardiovascular Development And Disease

Klaassen, Sabine S; Kühnisch, Jirko J; Schultze-Berndt, Alina A; Seidel, Franziska F

Publication Date: 2022-06-30

Variant appearance in text: MYH7: 732+1G>A

PubMed Link: 35877568

Variant Present in the following documents:

• Main text
• jcdd-09-00206.pdf

View BVdb publication page

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A Systematic Review of Ebstein's Anomaly with Left Ventricular Noncompaction.

Journal Of Cardiovascular Development And Disease

Thareja, Suma K SK; Frommelt, Michele A MA; Lincoln, Joy J; Lough, John W JW; Mitchell, Michael E ME; Tomita-Mitchell, Aoy A

Publication Date: 2022-04-13

Variant appearance in text: MYH7: 732+1G>A

PubMed Link: 35448091

Variant Present in the following documents:

• jcdd-09-00115.pdf

View BVdb publication page

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Diverse cardiac phenotypes among different carriers of the same MYH7 splicing variant allele (c.732+1G>A) from a family.

Bmc Medical Genomics

Tu, Peng P; Sun, Hairui H; Zhang, Xiaohang X; Ran, Qian Q; He, Yihua Y; Ran, Suzhen S

Publication Date: 2022-02-24

Variant appearance in text: MYH7: 732+1G>A

PubMed Link: 35209905

Variant Present in the following documents:

• Main text
• 12920_2022_Article_1186.pdf

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: 732+1G>A

PubMed Link: 33500567

Variant Present in the following documents:

• Main text
• 41436_2020_Article_1049.pdf
• 41436_2020_1049_MOESM1_ESM.pdf
• 41436_2020_1049_MOESM2_ESM.xlsx, sheet 2

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: 732+1G>A

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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Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

Journal Of The American Heart Association

van Waning, Jaap I JI; Moesker, Joost J; Heijsman, Daphne D; Boersma, Eric E; Majoor-Krakauer, Danielle D

Publication Date: 2019-12-03

Variant appearance in text: MYH7: 732+1G>A

PubMed Link: 31771441

Variant Present in the following documents:

• JAH3-8-e012993.pdf
• JAH3-8-e012993-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: 732+1G>A; rs730880850

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: 732+1G>A

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

View BVdb publication page

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Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.

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

Mazzarotto, Francesco F; Girolami, Francesca F; Boschi, Beatrice B; Barlocco, Fausto F; Tomberli, Alessia A; Baldini, Katia K; Coppini, Raffaele R; Tanini, Ilaria I; Bardi, Sara S; Contini, Elisa E; Cecchi, Franco F; Pelo, Elisabetta E; Cook, Stuart A SA; Cerbai, Elisabetta E; Poggesi, Corrado C; Torricelli, Francesca F; Walsh, Roddy R; Olivotto, Iacopo I

Publication Date: 2019-02

Variant appearance in text: MYH7: 732+1G>A

PubMed Link: 29875424

Variant Present in the following documents:

• 41436_2018_46_MOESM1_ESM.xlsx, sheet 3

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: 732+1G>A

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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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: MYH7: 732+1G>A; rs730880850

PubMed Link: 27788187

Variant Present in the following documents:

• Main text
• pone.0165174.pdf

View BVdb publication page

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Interpreting secondary cardiac disease variants in an exome cohort.

Circulation. Cardiovascular Genetics

Ng, David D; Johnston, Jennifer J JJ; Teer, Jamie K JK; Singh, Larry N LN; Peller, Lindsey C LC; Wynter, Jamila S JS; Lewis, Katie L KL; Cooper, David N DN; Stenson, Peter D PD; Mullikin, James C JC; Biesecker, Leslie G LG; ,

Publication Date: 2013-08

Variant appearance in text: MYH7: 732+1G>A

PubMed Link: 23861362

Variant Present in the following documents:

• Main text

View BVdb publication page

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