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Genetic Evaluation of Cardiomyopathy—A Heart Failure Society of America Practice Guideline

Journal of cardiac failure, 2018-05, Vol.24 (5), p.281-302

2018

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Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2018-09, Vol.20 (9), p.899-909

2018

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Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery

PLoS genetics, 2022-06, Vol.18 (6), p.e1010236-e1010236

2022

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Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy

PLoS genetics, 2020-05, Vol.16 (5), p.e1008639-e1008639

2020

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Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease

Circulation. Cardiovascular genetics, 2016-08, Vol.9 (4), p.320-329

2016

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Decoding Genetics of Congenital Heart Disease Using Patient-Derived Induced Pluripotent Stem Cells (iPSCs)

Frontiers in cell and developmental biology, 2021-01, Vol.9, p.630069-630069

2021

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Case Report: An association of left ventricular outflow tract obstruction with 5p deletions

Frontiers in genetics, 2024-10, Vol.15, p.1451746

2024

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Generation and characterization of a human induced pluripotent stem cell (iPSC) line from a patient with congenital heart disease (CHD)

Stem cell research, 2022-12, Vol.65, p.102958-102958, Article 102958

2022

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Novel familial dilated cardiomyopathy mutation in MYL2 affects the structure and function of myosin regulatory light chain

The FEBS journal, 2015-06, Vol.282 (12), p.2379-2393

2015

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Generation of an induced pluripotent stem cell line NCHi003-A from a 11-year-old male with pulmonary atresia with intact ventricular septum (PA-IVS)

Stem cell research, 2022-10, Vol.64, p.102893-102893, Article 102893

2022

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Characterization of an iPSC line NCHi006-A from a patient with hypoplastic left heart syndrome (HLHS)

Stem cell research, 2022-10, Vol.64, p.102892-102892, Article 102892

2022

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A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease

Journal of the American Heart Association, 2023-09, Vol.12 (18), p.e029340-e029340

2023

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Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia

European journal of human genetics : EJHG, 2019-10, Vol.27 (10), p.1569-1577

2019

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Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve

BMC medical genomics, 2014-09, Vol.7 (1), p.56-56, Article 56

2014

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Lifetime Prevalence of Sexual Intercourse and Contraception Use at Last Sex Among Adolescents and Young Adults With Congenital Heart Disease

Journal of adolescent health, 2015-04, Vol.56 (4), p.396-401

2015

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Bicuspid Aortic Valve Disease with Early-Onset Complications: Characteristics and Aortic Outcomes

Hearts (Basel, Switzerland), 2024-06, Vol.5 (3), p.253-258

2024

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Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases

JIMD reports, 2023-01, Vol.64 (1), p.65-70

2023

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A Multi-Omics Approach Using a Mouse Model of Cardiac Malformations for Prioritization of Human Congenital Heart Disease Contributing Genes

Frontiers in cardiovascular medicine, 2021-08, Vol.8, p.683074

2021

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Promising AAV.U7snRNAs vectors targeting DMPK improve DM1 hallmarks in patient-derived cell lines

Frontiers in cell and developmental biology, 2023-06, Vol.11, p.1181040

2023

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Feasibility and safety of systemic rAAV9-hNAGLU delivery for treating mucopolysaccharidosis IIIB: toxicology, biodistribution, and immunological assessments in primates

Human gene therapy. Clinical development, 2014-06, Vol.25 (2), p.72

2014

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Longitudinal echocardiography in pediatric patients with hypermobile Ehlers‐Danlos syndrome

American journal of medical genetics. Part A, 2024-12, Vol.194 (12), p.e63844-n/a

2024

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Update in the Mucopolysaccharidoses

Seminars in pediatric neurology, 2021-04, Vol.37, p.100874-100874, Article 100874

2021

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Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A

American journal of medical genetics. Part A, 2011-12, Vol.155A (12), p.3002-3006

2011

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Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2020-11, Vol.22 (11), p.1735-1742

2020

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Genetic Evaluation of Cardiomyopathy—A Heart Failure Society of America Practice Guideline

Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery

Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy

Gene Copy-Number Variation and Associated Polymorphisms of Complement Component C4 in Human Systemic Lupus Erythematosus (SLE): Low Copy Number Is a Risk Factor for and High Copy Number Is a Protective Factor against SLE Susceptibility in European Americans

Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease

Decoding Genetics of Congenital Heart Disease Using Patient-Derived Induced Pluripotent Stem Cells (iPSCs)

Case Report: An association of left ventricular outflow tract obstruction with 5p deletions

Generation and characterization of a human induced pluripotent stem cell (iPSC) line from a patient with congenital heart disease (CHD)

Novel familial dilated cardiomyopathy mutation in MYL2 affects the structure and function of myosin regulatory light chain

Generation of an induced pluripotent stem cell line NCHi003-A from a 11-year-old male with pulmonary atresia with intact ventricular septum (PA-IVS)

Characterization of an iPSC line NCHi006-A from a patient with hypoplastic left heart syndrome (HLHS)

A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease

Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia

Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve

Lifetime Prevalence of Sexual Intercourse and Contraception Use at Last Sex Among Adolescents and Young Adults With Congenital Heart Disease

Bicuspid Aortic Valve Disease with Early-Onset Complications: Characteristics and Aortic Outcomes

Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases

A Multi-Omics Approach Using a Mouse Model of Cardiac Malformations for Prioritization of Human Congenital Heart Disease Contributing Genes

Promising AAV.U7snRNAs vectors targeting DMPK improve DM1 hallmarks in patient-derived cell lines

Feasibility and safety of systemic rAAV9-hNAGLU delivery for treating mucopolysaccharidosis IIIB: toxicology, biodistribution, and immunological assessments in primates

Longitudinal echocardiography in pediatric patients with hypermobile Ehlers‐Danlos syndrome

Update in the Mucopolysaccharidoses

Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A

Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG)

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