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Waggoner, Darrel J.
One or more keywords matched the following items that are connected to Waggoner, Darrel J.
Item TypeName
Concept Developmental Disabilities
Academic Article Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.
Academic Article Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance.
Academic Article Two Children with macrocephaly, developmental delay, and PTEN mutation.
Academic Article Familial pyloric stenosis associated with developmental delays.
Academic Article NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.
Academic Article Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Academic Article Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.
Academic Article Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
Academic Article A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.
Academic Article Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Concept Neurodevelopmental Disorders
Search Criteria
  • Neurodevelopmental
  • Disabilities