Publications:

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Novel Mutations in β-MYH7 Gene in Indian Patients With Dilated Cardiomyopathy.

Cjc Open

Rani, Deepa Selvi DS; Vijaya Kumar, Archana A; Nallari, Pratibha P; Sampathkumar, Katakam K; Dhandapany, Perundurai S PS; Narasimhan, Calambur C; Rathinavel, Andiappan A; Thangaraj, Kumarasamy K

Publication Date: 2022-01

Variant appearance in text: rs2069542

PubMed Link: 35072022

Variant Present in the following documents:

• Main text
• main.pdf

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Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.

Peerj

Guelly, Christian C; Abilova, Zhannur Z; Nuralinov, Omirbek O; Panzitt, Katrin K; Akhmetova, Ainur A; Rakhimova, Saule S; Kozhamkulov, Ulan U; Kairov, Ulykbek U; Molkenov, Askhat A; Seisenova, Ainur A; Trajanoski, Slave S; Abildinova Rashbayeva, Gulzhaina G; Kaussova, Galina G; Windpassinger, Christian C; Lee, Joseph H JH; Zhumadilov, Zhaxybay Z; Bekbossynova, Makhabbat M; Akilzhanova, Ainur A

Publication Date: 2021

Variant appearance in text: MYH7: F244L

PubMed Link: 33552729

Variant Present in the following documents:

• Main text
• peerj-09-10711-s004.xlsx, sheet 1

View BVdb publication page

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Transient swallowing-induced atrial tachycardia in a patient with genotyped hypertrophic cardiomyopathy.

Clinical Case Reports

Fujino, Noboru N; Hayashi, Kenshi K; Sakata, Kenji K; Tada, Hayato H; Nakanishi, Chiaki C; Tsuda, Toyonobu T; Nomura, Akihiro A; Yoshida, Shohei S; Sakamoto, Yuichiro Y; Kato, Takeshi T; Furusho, Hiroshi H; Kawashiri, Masa-Aki MA; Takamura, Masayuki M

Publication Date: 2020-09

Variant appearance in text: MYH7: 732C>G; Phe244Leu

PubMed Link: 32983501

Variant Present in the following documents:

• Main text
• CCR3-8-1809.pdf

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs2069542

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

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: F244L

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing.

International Journal Of Molecular Medicine

Zhao, Yue Y; Feng, Yue Y; Ding, Xiaoxue X; Dong, Shuwei S; Zhang, Hong H; Ding, Jiahuan J; Xia, Xueshan X

Publication Date: 2017-07

Variant appearance in text: MYH7: Phe244Leu

PubMed Link: 28498465

Variant Present in the following documents:

• Main text
• ijmm-40-01-0121.pdf

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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: MYH7: F244L

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: F244L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Rapid molecular genetic diagnosis of hypertrophic cardiomyopathy by semiconductor sequencing.

Journal Of Translational Medicine

Li, Zongzhe Z; Huang, Jin J; Zhao, Jinzhao J; Chen, Chen C; Wang, Hong H; Ding, Hu H; Wang, Dao Wu DW; Wang, Dao Wen DW

Publication Date: 2014-06-17

Variant appearance in text: rs2069542

PubMed Link: 24938736

Variant Present in the following documents:

• Main text
• 1479-5876-12-173.pdf

View BVdb publication page

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Genome-wide study of gene variants associated with differential cardiovascular event reduction by pravastatin therapy.

Plos One

Shiffman, Dov D; Trompet, Stella S; Louie, Judy Z JZ; Rowland, Charles M CM; Catanese, Joseph J JJ; Iakoubova, Olga A OA; Kirchgessner, Todd G TG; Westendorp, Rudi G J RG; de Craen, Anton J M AJ; Slagboom, P Eline PE; Buckley, Brendan M BM; Stott, David J DJ; Sattar, Naveed N; Devlin, James J JJ; Packard, Christopher J CJ; Ford, Ian I; Sacks, Frank M FM; Jukema, J Wouter JW

Publication Date: 2012

Variant appearance in text: rs2069542

PubMed Link: 22666496

Variant Present in the following documents:

• Main text
• pone.0038240.pdf

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Comparison of the Illumina Genome Analyzer and Roche 454 GS FLX for resequencing of hypertrophic cardiomyopathy-associated genes.

Journal Of Biomolecular Techniques : Jbt

Dames, Shale S; Durtschi, Jacob J; Geiersbach, Katherine K; Stephens, Jack J; Voelkerding, Karl V KV

Publication Date: 2010-07

Variant appearance in text: rs2069542

PubMed Link: 20592870

Variant Present in the following documents:

• Main text

View BVdb publication page

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