Search results - ORA - Oxford University Research Archive

1 - 5 of 5

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

Distinct subgroups in hypertrophic cardiomyopathy in the NHLBI HCM Registry

Neubauer, S, Kolm, P, Ho, CY, et al.
2019-11-04

3

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

4

Journal article

Data-driven modelling of mutational hotspots and in silico predictors in hypertrophic cardiomyopathy

Waring, A, Harper, A, Salatino, S, et al.
2020-07-30

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

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