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

When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies

Ehsan, M, Jiang, H, Thomson, K, et al.
2017-11-08

4

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

5

Journal article

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series

Taylor, J, Craft, J, Blair, E, et al.
2019-07-25

6

Journal article

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes

Walsh, R, Buchan, R, Wilk, A, et al.
2017-01-11

7

Thesis

Refining the genetic architecture of inherited cardiomyopathies through case-control analyses

Thomson, K
2018

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