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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

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

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

5

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

6

Journal article

Characterization of antimicrobial-resistant Gram-negative bacteria that cause neonatal sepsis in seven low- and middle-income countries

Sands, K, Walsh, TR, Carvalho, MJ, et al.
2021-03-29

7

Journal article

Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper IgE

Kienzler, A, van Schouwenburg, P, Taylor, J, et al.
2016

8

Journal article

Incremental value of left atrial booster and reservoir strain in predicting atrial fibrillation in patients with hypertrophic cardiomyopathy: a cardiovascular magnetic resonance study

Raman, B, Smillie, RW, Mahmod, M, et al.
2021-10-11

9

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

10

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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