403 results on '"McBride, Kim L."'
Search Results
2. Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return
3. Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome
4. Germline Variant Interpretation in Children with Severe Sepsis
5. A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices
6. Use of machine learning to classify high-risk variants of uncertain significance in lamin A/C cardiac disease
7. Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve.
8. Abstract 15501: Rare Genomic Copy Number Variants Implicate New Candidate Genes for Bicuspid Aortic Valve
9. Abstract 11984: A Novel Pathogenic Gata6 Variant Identified in a Family With Persistent Truncus Arteriosus, Childhood-Onset Diabetes Mellitus and Spontaneous Intestinal Perforation
10. Update in the Mucopolysaccharidoses
11. Rare Genomic Copy Number Variants Implicate New Candidate Genes for Bicuspid Aortic Valve
12. Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG)
13. POLRMT mutations impair mitochondrial transcription causing neurological disease
14. A pediatric perspective on genomics and prevention in the twenty-first century
15. Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors
16. Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia
17. A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease
18. Novel pathogenic GATA6 variant associated with congenital heart disease, diabetes mellitus and necrotizing enterocolitis
19. Genetic Evaluation of Cardiomyopathy—A Heart Failure Society of America Practice Guideline
20. Phenylalanine and tyrosine measurements across gestation by tandem mass spectrometer on dried blood spot cards from normal pregnant women
21. Abstract 16552: Chromosomal Microarray Abnormalities in More Than 1300 Patients With Congenital Heart Disease Provide Novel Clinical and Etiological Insights
22. Promising AAV.U7snRNAs vectors targeting DMPK improve DM1 hallmarks in patient-derived cell lines
23. Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
24. Interim results of Transpher A, a multicenter, single-dose clinical trial of UX111 gene therapy for Sanfilippo syndrome type A (mucopolysaccharidosis IIIA)
25. Molecular Diagnosis of Hypertrophic Cardiomyopathy (HCM) : In the Heart of Cardiac Disease
26. Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
27. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
28. Lifetime Prevalence of Sexual Intercourse and Contraception Use at Last Sex Among Adolescents and Young Adults With Congenital Heart Disease
29. Molecular Diagnosis of Hypertrophic Cardiomyopathy (HCM): In the Heart of Cardiac Disease
30. Generation and characterization of a human induced pluripotent stem cell (iPSC) line from a patient with congenital heart disease (CHD)
31. Germline Variant Interpretation in Children with Severe Sepsis
32. 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)
33. Characterization of an iPSC line NCHi006-A from a patient with hypoplastic left heart syndrome (HLHS)
34. Abnormal Longitudinal Growth of the Aorta in Children with Familial Bicuspid Aortic Valve
35. Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases
36. A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties
37. Cerebral organoids containing an AUTS2 missense variant model microcephaly
38. A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy
39. Modifying Mendel Redux: Unbiased Approaches Can Find Modifiers
40. Cerebral organoids containing an AUTS2 missense variant model microcephaly.
41. Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases.
42. Interim results of Transpher A, a multicentre, single-dose, phase 1/2 clinical trial of ABO-102 investigational gene therapy for Sanfilippo syndrome type A (mucopolysaccharidosis IIIA)
43. Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease.
44. Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly
45. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
46. Use of Elamipretide in Patients Assigned Treatment in the Compassionate Use Program: Case Series in Four Rare Orphan Diseases
47. Hypomorphic alleles pose challenges in rare disease genomic variant interpretation
48. A Multi-Omics Approach Using a Mouse Model of Cardiac Malformations for Prioritization of Human Congenital Heart Disease Contributing Genes
49. A qualitative assessment of parental experiences with false‐positive newborn screening for Krabbe disease
50. Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease
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