Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity

(2021) Andrew R. Harper et al.   NATURE GENETICS

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

(2021) Rafik Tadros et al.   NATURE GENETICS

Clinical Profile and Health Disparities in a Multiethnic Cohort of Patients With Hypertrophic Cardiomyopathy

(2021) Alexandra Butters et al.   Circulation-Heart Failure

Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy

(2020) James P. Pirruccello et al.   Nature Communications

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants

(2020) Johanna C. Herkert et al.   AMERICAN HEART JOURNAL

A Pathogenic Variant in ALPK3 Is Associated With an Autosomal Dominant Adult-onset Hypertrophic Cardiomyopathy

(2020) Chanatjit Cheawsamoot et al.   Circulation-Genomic and Precision Medicine

Prevalence of TTR variants detected by whole-exome sequencing in hypertrophic cardiomyopathy

(2019) Luis R. Lopes et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

Genome-Wide Analysis of Left Ventricular Image-Derived Phenotypes Identifies Fourteen Loci Associated with Cardiac Morphogenesis and Heart Failure Development

(2019) Nay Aung et al.   CIRCULATION

Distinct Subgroups in Hypertrophic Cardiomyopathy in the NHLBI HCM Registry

(2019) Stefan Neubauer et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features

(2018) Hager Jaouadi et al.   JOURNAL OF HUMAN GENETICS

Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy

(2018) Juan Pablo Ochoa et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy

(2017) Ulrike Esslinger et al.   PLoS One

ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy

(2016) Dean G. Phelan et al.   EUROPEAN HEART JOURNAL

Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy

(2016) Rowida Almomani et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

The ExAC browser: displaying reference data information from over 60 000 exomes

(2016) Konrad J. Karczewski et al.   NUCLEIC ACIDS RESEARCH

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy

(2014)   EUROPEAN HEART JOURNAL

A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM Risk-SCD)

(2013) C. O'Mahony et al.   EUROPEAN HEART JOURNAL

A general approach to power calculation for relationship testing

(2013) Thore Egeland et al.   Forensic Science International-Genetics

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

(2012) Vincent Plagnol et al.   BIOINFORMATICS

Cardiomyopathy in α-Kinase 3 (ALPK3)–Deficient Mice

(2011) I. Van Sligtenhorst et al.   VETERINARY PATHOLOGY