Kim L. McBride

NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.

Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.

Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.

Parental knowledge and attitudes toward hypertrophic cardiomyopathy genetic testing.

Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.

NOTCH1 missense alleles associated with left ventricular outflow tract defects exhibit impaired receptor processing and defective EMT.

Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects.

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

Genetic knowledge and attitudes of parents of children with congenital heart defects.

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

Measuring genetic knowledge: a brief survey instrument for adolescents and adults.

A GLP-Compliant Toxicology and Biodistribution Study: Systemic Delivery of an rAAV9 Vector for the Treatment of Mucopolysaccharidosis IIIB.

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

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

Modifying Mendel Redux: Unbiased Approaches Can Find Modifiers.

Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach.

Phenylalanine and tyrosine measurements across gestation by tandem mass spectrometer on dried blood spot cards from normal pregnant women.

Evaluation of biomarkers for Sanfilippo syndrome.

Novel in-frame deletion causes Larsen syndrome in a three-generation pedigree.