Kim L. McBride Center for Cardiovascular Research The Research Institute at Nationwide Children’s Hospital Biography Publications Institution JoVE Articles Kim L. McBride has not added a biography. If you are Kim L. McBride and would like to personalize this page please email our Author Liaison for assistance. Publications Novel In-frame Deletion Causes Larsen Syndrome in a Three-generation Pedigree Cold Spring Harbor Molecular Case Studies. 12, 2019 | Pubmed ID: 31836586 Evaluation of Biomarkers for Sanfilippo Syndrome Molecular Genetics and Metabolism. Sep - Oct, 2019 | Pubmed ID: 31104888 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. 08, 2019 | Pubmed ID: 30626901 Modifying Mendel Redux: Unbiased Approaches Can Find Modifiers Circulation. Cardiovascular Genetics. 10, 2017 | Pubmed ID: 29025762 Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease Circulation. Cardiovascular Genetics. Aug, 2016 | Pubmed ID: 27418595 A Genome-wide Association Study of Congenital Cardiovascular Left-sided Lesions Shows Association with a Locus on Chromosome 20 Human Molecular Genetics. 06, 2016 | Pubmed ID: 26965164 Measuring Genetic Knowledge: a Brief Survey Instrument for Adolescents and Adults Clinical Genetics. Feb, 2016 | Pubmed ID: 26032340 Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach Journal of Cardiovascular Development and Disease. Apr, 2015 | Pubmed ID: 29371513 A GLP-Compliant Toxicology and Biodistribution Study: Systemic Delivery of an RAAV9 Vector for the Treatment of Mucopolysaccharidosis IIIB Human Gene Therapy. Clinical Development. Dec, 2015 | Pubmed ID: 26684447 Use of a Targeted, Combinatorial Next-generation Sequencing Approach for the Study of Bicuspid Aortic Valve BMC Medical Genomics. Sep, 2014 | Pubmed ID: 25260786 Genetic Knowledge and Attitudes of Parents of Children with Congenital Heart Defects American Journal of Medical Genetics. Part A. Dec, 2014 | Pubmed ID: 25256359 Feasibility and Safety of Systemic RAAV9-hNAGLU Delivery for Treating Mucopolysaccharidosis IIIB: Toxicology, Biodistribution, and Immunological Assessments in Primates Human Gene Therapy. Clinical Development. Jun, 2014 | Pubmed ID: 24720466 Association of Common Variants in ERBB4 with Congenital Left Ventricular Outflow Tract Obstruction Defects Birth Defects Research. Part A, Clinical and Molecular Teratology. Mar, 2011 | Pubmed ID: 21290564 NOTCH1 Missense Alleles Associated with Left Ventricular Outflow Tract Defects Exhibit Impaired Receptor Processing and Defective EMT Biochimica Et Biophysica Acta. Jan, 2011 | Pubmed ID: 20951801 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. Jun, 2010 | Pubmed ID: 20533527 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. Mar, 2010 | Pubmed ID: 20206336 Parental Knowledge and Attitudes Toward Hypertrophic Cardiomyopathy Genetic Testing Pediatric Cardiology. Feb, 2010 | Pubmed ID: 19949785 Significant Contributions of the Extraembryonic Membranes and Maternal Genotype to the Placental Pathology in Heterozygous Nsdhl Deficient Female Embryos Human Molecular Genetics. Jan, 2010 | Pubmed ID: 19880419 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. Feb, 2009 | Pubmed ID: 19265751 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. Jun, 2009 | Pubmed ID: 19142209 NOTCH1 Mutations in Individuals with Left Ventricular Outflow Tract Malformations Reduce Ligand-induced Signaling Human Molecular Genetics. Sep, 2008 | Pubmed ID: 18593716 神経筋障害の治療法を調査するヒト線維芽細胞の筋芽細胞への直接リプログラミング Camila F. Almeida1, Emma C. Frair1, Nianyuan Huang1, Reid Neinast2, Kim L. McBride2,3,4,6, Robert B. Weiss5, Kevin M. Flanigan1,6, Nicolas Wein1,6 1Center for Gene Therapy, The Research Institute at Nationwide Children’s Hospital, 2Center for Cardiovascular Research, The Research Institute at Nationwide Children’s Hospital, 3The Heart Center, Nationwide Children’s Hospital, 4Division of Genetic and Genomic Medicine, Nationwide Children’s Hospital, 5Department of Human Genetics, The University of Utah School of Medicine, 6Department of Pediatrics, The Ohio State University JoVE 61991 Genetics
神経筋障害の治療法を調査するヒト線維芽細胞の筋芽細胞への直接リプログラミング Camila F. Almeida1, Emma C. Frair1, Nianyuan Huang1, Reid Neinast2, Kim L. McBride2,3,4,6, Robert B. Weiss5, Kevin M. Flanigan1,6, Nicolas Wein1,6 1Center for Gene Therapy, The Research Institute at Nationwide Children’s Hospital, 2Center for Cardiovascular Research, The Research Institute at Nationwide Children’s Hospital, 3The Heart Center, Nationwide Children’s Hospital, 4Division of Genetic and Genomic Medicine, Nationwide Children’s Hospital, 5Department of Human Genetics, The University of Utah School of Medicine, 6Department of Pediatrics, The Ohio State University JoVE 61991 Genetics
