Kim L. McBride

Center for Cardiovascular Research, The Research Institute at Nationwide Children’s Hospital

Affiliated withThe Research Institute at Nationwide Children’s Hospital Nationwide Children’s Hospital The Ohio State University

Research Area

Genetics

Biography

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 3	2021

Other Publications

Article	Year
NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. Human molecular genetics\| PubMed ID: 18593716	2008
Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome). European journal of human genetics : EJHG\| PubMed ID: 19142209	2009
The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. Genetics in medicine : official journal of the American College of Medical Genetics\| PubMed ID: 19265751	2009
Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos. Human molecular genetics\| PubMed ID: 19880419	2010
Parental knowledge and attitudes toward hypertrophic cardiomyopathy genetic testing. Pediatric cardiology\| PubMed ID: 19949785	2010
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. American journal of human genetics\| PubMed ID: 20206336	2010
Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly. Autism research : official journal of the International Society for Autism Research\| PubMed ID: 20533527	2010
NOTCH1 missense alleles associated with left ventricular outflow tract defects exhibit impaired receptor processing and defective EMT. Biochimica et biophysica acta\| PubMed ID: 20951801	2011
Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects. Birth defects research. Part A, Clinical and molecular teratology\| PubMed ID: 21290564	2011
Feasibility and safety of systemic rAAV9-hNAGLU delivery for treating mucopolysaccharidosis IIIB: toxicology, biodistribution, and immunological assessments in primates. Human gene therapy. Clinical development\| PubMed ID: 24720466	2014
Genetic knowledge and attitudes of parents of children with congenital heart defects. American journal of medical genetics. Part A\| PubMed ID: 25256359	2014
Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve. BMC medical genomics\| PubMed ID: 25260786	2014
Measuring genetic knowledge: a brief survey instrument for adolescents and adults. Clinical genetics\| PubMed ID: 26032340	2016
A GLP-Compliant Toxicology and Biodistribution Study: Systemic Delivery of an rAAV9 Vector for the Treatment of Mucopolysaccharidosis IIIB. Human gene therapy. Clinical development\| PubMed ID: 26684447	2015
A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. Human molecular genetics\| PubMed ID: 26965164	2016
Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease. Circulation. Cardiovascular genetics\| PubMed ID: 27418595	2016
Modifying Mendel Redux: Unbiased Approaches Can Find Modifiers. Circulation. Cardiovascular genetics\| PubMed ID: 29025762	2017
Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach. Journal of cardiovascular development and disease\| PubMed ID: 29371513	2015
Phenylalanine and tyrosine measurements across gestation by tandem mass spectrometer on dried blood spot cards from normal pregnant women. Genetics in medicine : official journal of the American College of Medical Genetics\| PubMed ID: 30626901	2019
Evaluation of biomarkers for Sanfilippo syndrome. Molecular genetics and metabolism\| PubMed ID: 31104888	2019
Novel in-frame deletion causes Larsen syndrome in a three-generation pedigree. Cold Spring Harbor molecular case studies\| PubMed ID: 31836586	2019