Publications:

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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: Asn1918Lys

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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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: MYH7: 5754C>G; Asn1918Lys

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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KLF13 Loss-of-Function Mutations Underlying Familial Dilated Cardiomyopathy.

Journal Of The American Heart Association

Guo, Yu-Han YH; Wang, Jun J; Guo, Xiao-Juan XJ; Gao, Ri-Feng RF; Yang, Chen-Xi CX; Li, Li L; Sun, Yu-Min YM; Qiu, Xing-Biao XB; Xu, Ying-Jia YJ; Yang, Yi-Qing YQ

Publication Date: 2022-11-15

Variant appearance in text: MYH7: Asn1918Lys

PubMed Link: 36346048

Variant Present in the following documents:

• JAH3-11-e027578.pdf

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: 5754C>G; Asn1918Lys

PubMed Link: 36178741

Variant Present in the following documents:

• hcg-15-e002981.pdf

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Case Report: Tetralogy of Fallot in a Chinese Family Caused by a Novel Missense Variant of MYOM2.

Frontiers In Cardiovascular Medicine

Wang, Jing J; Wang, Chunyan C; Xie, Haiyang H; Feng, Xiaoyuan X; Wei, Lei L; Wang, Binbin B; Li, Tengyan T; Pi, Mingan M; Gong, Li L

Publication Date: 2022

Variant appearance in text: MYH7: Asn1918lys

PubMed Link: 35872890

Variant Present in the following documents:

• fcvm-09-863650.pdf

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Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases

Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G

Publication Date: 2021-11-24

Variant appearance in text: MYH7: N1918K

PubMed Link: 34819141

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2112.pdf

View BVdb publication page

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Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases

Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G

Publication Date: 2021-11-24

Variant appearance in text: MYH7: N1918K

PubMed Link: 34819141

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2112.pdf

View BVdb publication page

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Case series, chemotherapy-induced cardiomyopathy: mind the family history!

European Heart Journal. Case Reports

Moghadasi, Setareh S; Fijn, Rienke R; Beeres, Saskia L M A SLMA; Bikker, Hennie H; Jongbloed, Jan D H JDH; Josephus Jitta, Djike D; Kroep, Judith R JR; Lekanne Deprez, Ronald H RH; Vos, Yvonne J YJ; de Vreede, Mariëlle J M MJM; Antoni, M Louisa ML; Barge-Schaapveld, Daniela Q C M DQCM

Publication Date: 2021-10

Variant appearance in text: MYH7: 5754C>G; Asn1918Lys

PubMed Link: 34703979

Variant Present in the following documents:

• Main text
• ytab333.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: 5754C>G; Asn1918Lys

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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Disease mutations in striated muscle myosins.

Biophysical Reviews

Parker, Francine F; Peckham, Michelle M

Publication Date: 2020-08

Variant appearance in text: MYH7: Asn1918Lys

PubMed Link: 32651905

Variant Present in the following documents:

• 12551_2020_721_MOESM1_ESM.pdf

View BVdb publication page

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A rare case of familial restrictive cardiomyopathy, with mutations in MYH7 and ABCC9 genes.

Discoveries (Craiova, Romania)

Neagoe, Oana O; Ciobanu, Anda A; Diaconu, Rodica R; Mirea, Oana O; Donoiu, Ionuț I; Militaru, Constantin C

Publication Date: 2019-09-30

Variant appearance in text: MYH7: Asn1918Lys

PubMed Link: 32309617

Variant Present in the following documents:

• discoveries-07-099.pdf

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Dysregulation of Calcium Handling in Duchenne Muscular Dystrophy-Associated Dilated Cardiomyopathy: Mechanisms and Experimental Therapeutic Strategies.

Journal Of Clinical Medicine

Law, Michelle L ML; Cohen, Houda H; Martin, Ashley A AA; Angulski, Addeli Bez Batti ABB; Metzger, Joseph M JM

Publication Date: 2020-02-14

Variant appearance in text: MYH7: Asn1918Lys

PubMed Link: 32075145

Variant Present in the following documents:

• Main text
• jcm-09-00520.pdf

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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: 5754C>G; Asn1918Lys

PubMed Link: 31771441

Variant Present in the following documents:

• JAH3-8-e012993-s001.pdf
• JAH3-8-e012993.pdf

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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: 5754C>G; Asn1918Lys

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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The contribution of mutations in MYH7 to the onset of cardiomyopathy.

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

Bollen, I A E IAE; van der Velden, J J

Publication Date: 2017-12

Variant appearance in text: MYH7: Asn1918Lys

PubMed Link: 29052809

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects.

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

van der Linde, I H M IHM; Hiemstra, Y L YL; Bökenkamp, R R; van Mil, A M AM; Breuning, M H MH; Ruivenkamp, C C; Ten Broeke, S W SW; Veldkamp, R F RF; van Waning, J I JI; van Slegtenhorst, M A MA; van Spaendonck-Zwarts, K Y KY; Lekanne Deprez, R H RH; Herkert, J C JC; Boven, L L; van der Zwaag, P A PA; Jongbloed, J D H JDH; Bootsma, M M; Barge-Schaapveld, D Q C M DQCM

Publication Date: 2017-12

Variant appearance in text: MYH7: Asn1918Lys

PubMed Link: 28864942

Variant Present in the following documents:

• Main text
• 12471_2017_Article_1037.pdf

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The pathogenicity of genetic variants previously associated with left ventricular non-compaction.

Molecular Genetics & Genomic Medicine

Abbasi, Yeganeh Y; Jabbari, Javad J; Jabbari, Reza R; Yang, Ren-Qiang RQ; Risgaard, Bjarke B; Køber, Lars L; Haunsø, Stig S; Tfelt-Hansen, Jacob J

Publication Date: 2016-03

Variant appearance in text: MYH7: N1918K

PubMed Link: 27066506

Variant Present in the following documents:

• MGG3-4-135-s001.xlsx, sheet 1
• MGG3-4-135.pdf

View BVdb publication page

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The sarcomeric M-region: a molecular command center for diverse cellular processes.

Biomed Research International

Hu, Li-Yen R LY; Ackermann, Maegen A MA; Kontrogianni-Konstantopoulos, Aikaterini A

Publication Date: 2015

Variant appearance in text: MPD1: N1918K

PubMed Link: 25961035

Variant Present in the following documents:

• Main text

View BVdb publication page

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Heavy and light roles: myosin in the morphogenesis of the heart.

Cellular And Molecular Life Sciences : Cmls

England, Jennifer J; Loughna, Siobhan S

Publication Date: 2013-04

Variant appearance in text: MYH7: N1918K

PubMed Link: 22955375

Variant Present in the following documents:

• Main text
• 18_2012_Article_1131.pdf

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Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7.

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

van Engelen, K K; Postma, A V AV; van de Meerakker, J B A JB; Roos-Hesselink, J W JW; Helderman-van den Enden, A T J M AT; Vliegen, H W HW; Rahman, T T; Baars, M J H MJ; Sels, J-W JW; Bauer, U U; Pickardt, T T; Sperling, S R SR; Moorman, A F M AF; Keavney, B B; Goodship, J J; Klaassen, S S; Mulder, B J M BJ

Publication Date: 2013-03

Variant appearance in text: MYH7: Asn1918Lys

PubMed Link: 21604106

Variant Present in the following documents:

• Main text
• 12471_2011_Article_141.pdf

View BVdb publication page

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