Search results - ORA - Oxford University Research Archive

1 - 7 of 7

1

Journal article

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

Kelly, M, Caleshu, C, Morales, A, et al.
2018-01-04

2

Journal article

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

Thomson, K, Ormondroyd, E, Harper, A, et al.
2018-12-11

3

Journal article

Titin-truncating variants affect heart function in disease cohorts and the general population

Schafer, S, de Marvao, A, Adami, E, et al.
2016-11-21

4

Journal article

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect

Tadros, R, Francis, C, Xu, X, et al.
2021-01-25

5

Journal article

Reevaluating the genetic contribution of monogenic dilated cardiomyopathy

Mazzarotto, F, Tayal, U, Buchan, RJ, et al.
2020-02-01

6

Journal article

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

Walsh, R, Mazzarotto, F, Whiffin, N, et al.
2019-01-29

7

Journal article

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

Thomson, K, Watkins, H, Farrall, M, et al.
2016-08-17

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