Publications:

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Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology.

Npj Genomic Medicine

Shakur, Rameen R; Ochoa, Juan Pablo JP; Robinson, Alan J AJ; Niroula, Abhishek A; Chandran, Aneesh A; Rahman, Taufiq T; Vihinen, Mauno M; Monserrat, Lorenzo L

Publication Date: 2021-06-14

Variant appearance in text: rs727504244

PubMed Link: 34127679

Variant Present in the following documents:

• 41525_2021_204_MOESM1_ESM.pdf

View BVdb publication page

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Regional myocardial function at preclinical disease stage of hypertrophic cardiomyopathy in female gene variant carriers.

The International Journal Of Cardiovascular Imaging

Parbhudayal, Rahana Y RY; Seegers, Celine C; Croisille, Pierre P; Clarysse, Patrick P; van Rossum, Albert C AC; Germans, Tjeerd T; van der Velden, Jolanda J

Publication Date: 2021-06

Variant appearance in text: TNNT2: 277G>A

PubMed Link: 33559798

Variant Present in the following documents:

• 10554_2020_Article_2156.pdf

View BVdb publication page

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Increased Myocardial Oxygen Consumption Precedes Contractile Dysfunction in Hypertrophic Cardiomyopathy Caused by Pathogenic TNNT2 Gene Variants.

Journal Of The American Heart Association

Parbhudayal, Rahana Y RY; Harms, Hendrik J HJ; Michels, Michelle M; van Rossum, Albert C AC; Germans, Tjeerd T; van der Velden, Jolanda J

Publication Date: 2020-04-21

Variant appearance in text: TNNT2: 277G>A; Glu93Lys

PubMed Link: 32290750

Variant Present in the following documents:

• Main text
• JAH3-9-e015316.pdf

View BVdb publication page

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Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.

Circulation

Norrish, Gabrielle G; Jager, Joanna J; Field, Ella E; Quinn, Ellie E; Fell, Hannah H; Lord, Emma E; Cicerchia, Marcos N MN; Ochoa, Juan Pablo JP; Cervi, Elena E; Elliott, Perry M PM; Kaski, Juan Pablo JP

Publication Date: 2019-07-16

Variant appearance in text: TNNT2: 277G>A

PubMed Link: 31006259

Variant Present in the following documents:

• cir-140-184-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: TNNT2: 277G>A; Glu93Lys; rs727504244

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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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: TNNT2: E93K

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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The Molecular Mechanisms of Mutations in Actin and Myosin that Cause Inherited Myopathy.

International Journal Of Molecular Sciences

Marston, Steven S

Publication Date: 2018-07-11

Variant appearance in text: TNNT2: E93K

PubMed Link: 29997361

Variant Present in the following documents:

• Main text
• ijms-19-02020.pdf

View BVdb publication page

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