Comprehensive Genetic Testing for Pediatric Hypertrophic Cardiomyopathy Reveals Clinical Management Opportunities and Syndromic Conditions

Parental Attitudes Toward Clinical Genomic Sequencing in Children With Critical Cardiac Disease

(2021) Dana B. Gal et al.   Pediatric Critical Care Medicine

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

(2020) Martin Chevarin et al.   JOURNAL OF MEDICAL GENETICS

Cardiomyopathy in Children: Classification and Diagnosis: A Scientific Statement From the American Heart Association

(2019) Steven E. Lipshultz et al.   CIRCULATION

Inequities in multi-gene hereditary cancer testing: lower diagnostic yield and higher VUS rate in individuals who identify as Hispanic, African or Asian and Pacific Islander as compared to European

(2019) Mesaki K. Ndugga-Kabuye et al.   Familial Cancer

Clinical utility of exome sequencing in infantile heart failure

(2019) Alyssa Ritter et al.   GENETICS IN MEDICINE

Association of Race With Disease Expression and Clinical Outcomes Among Patients With Hypertrophic Cardiomyopathy

(2019) Lauren A. Eberly et al.   JAMA Cardiology

Views Of Primary Care Providers On Testing Patients For Genetic Risks For Common Chronic Diseases

(2018) Diane Hauser et al.   HEALTH AFFAIRS

When Genes, More Than Phenotype, Identify Different Diseases

(2018) Eloisa Arbustini et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Views from the clinic: Healthcare provider perspectives on whole genome sequencing in paediatrics

(2018) M.J. Szego et al.   European Journal of Medical Genetics

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

(2018) M. Ragan Hart et al.   GENETICS IN MEDICINE

Disparities in the Diagnosis of Hypertrophic Obstructive Cardiomyopathy: A Narrative Review of Current Literature

(2018) Joseph Burns et al.   Cardiology Research and Practice

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

(2017) Keith Nykamp et al.   GENETICS IN MEDICINE

Genetic Misdiagnoses and the Potential for Health Disparities

(2016) Arjun K. Manrai et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients

(2015) Stephen E. Lincoln et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Impact of Genetics on the Clinical Management of Channelopathies

(2013) Peter J. Schwartz et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Penetrance of Hypertrophic Cardiomyopathy in Children and Adolescents

(2012) Morten K. Jensen et al.   CIRCULATION

Prevalence of Sequence Variants in the RAS-Mitogen Activated Protein Kinase Signaling Pathway in Pre-Adolescent Children With Hypertrophic Cardiomyopathy

(2012) Juan Pablo Kaski et al.   Circulation-Cardiovascular Genetics

Pediatric Cardiomyopathy: Importance of Genetic and Metabolic Evaluation

(2012) Steven J. Kindel et al.   JOURNAL OF CARDIAC FAILURE

Prevalence of suspected hypertrophic cardiomyopathy or left ventricular hypertrophy based on race and gender in teenagers using screening echocardiography

(2011) Mohammad Reza Movahed et al.   Cardiovascular Ultrasound

Barriers to the use of genetic testing: A study of racial and ethnic disparities

(2009) Sandra Suther et al.   GENETICS IN MEDICINE