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Search Results to Darrel J. Waggoner

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One or more keywords matched the following properties of Waggoner, Darrel J.

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overview I am a clinical geneticist and 50% of my effort is devoted to patient activity. I participate in a general genetics clinic one full day where with a team of genetic counselors and fellows we see a wide range of both adult and pediatric patients for evaluation, diagnosis, counseling and treatment for genetic disorders. In addition I am involved in several multidisciplinary clinics including Marfan and Craniofacial clinic. I am also involved in education throughout the university specifically in the medical school. I am interested in developing new and unique curriculum for integrating genetics into the four years of the medical school training and residency programs. I am the Program Director for the Genetics Laboratory Training Program in molecular and cytogenetics and soon to be Laboratory Genetics and Genomics program. I am also interested in developing curriculum to facilitate the training of clinical genetics professionals on new technology. Specifically I have been involved in developing tools that help counselors and clinicians to interpret new genetic technology such as microarray and Next Generation sequencing results for panels and exome sequencing. Since I am mostly involved in the clinical aspects of the Department of Human Genetics my research is collaborative where I provide a clinical perspective for others research programs. My goal is to provide clinical correlation for the basic science research projects in the department. I have been involved in projects looking at telomere genotype/phenotype correlations, Soto syndrome, and chromosome abnormalities. I have recently been involved in a project with Dr.Carole Ober studying different clinic phenotypes in the Hutterite populations.

One or more keywords matched the following items that are connected to Waggoner, Darrel J.

Item TypeName
Concept Aortic Coarctation
Concept Amyotrophic Lateral Sclerosis
Concept Aortic Valve Stenosis
Concept Ataxia
Concept Congenital Abnormalities
Concept Abnormalities, Multiple
Concept Acute-Phase Reaction
Concept Amino Acid Metabolism, Inborn Errors
Concept DiGeorge Syndrome
Concept Calcinosis
Concept Fanconi Anemia
Concept Developmental Disabilities
Concept Child Development Disorders, Pervasive
Concept Foot Deformities, Congenital
Concept Chromosome Deletion
Concept Cleft Palate
Concept Glycogen Storage Disease Type II
Concept Growth Disorders
Concept Craniofacial Dysostosis
Concept Cystic Fibrosis
Concept De Lange Syndrome
Concept Epilepsy
Concept Chondrodysplasia Punctata
Concept Craniosynostoses
Concept Cri-du-Chat Syndrome
Concept Diseases in Twins
Concept Fetal Growth Retardation
Concept Muscle Hypotonia
Concept Obesity, Morbid
Concept Heart Diseases
Concept Hematologic Diseases
Concept Duodenal Diseases
Concept Intestinal Diseases
Concept Microcephaly
Concept Movement Disorders
Concept Muscular Diseases
Concept Ophthalmoplegia
Concept Hamartoma Syndrome, Multiple
Concept Intellectual Disability
Concept Microphthalmos
Concept Neurofibromatosis 1
Concept Neuronal Ceroid-Lipofuscinoses
Concept Pierre Robin Syndrome
Concept Failure to Thrive
Concept Heart Defects, Congenital
Concept Skin Abnormalities
Concept Hepatolenticular Degeneration
Concept Hypercholesterolemia
Concept Leukodystrophy, Globoid Cell
Concept Lipid Metabolism, Inborn Errors
Concept Tracheoesophageal Fistula
Concept Syndrome
Concept Trisomy
Concept Vitamin K Deficiency
Concept Turner Syndrome
Concept Vestibular Diseases
Concept Lysosomal Storage Diseases
Concept Limb Deformities, Congenital
Concept Muscular Dystrophies
Concept Hypertrophy, Left Ventricular
Concept Sequence Deletion
Concept Neurofibroma, Plexiform
Concept Pregnancy, High-Risk
Concept Arrhythmogenic Right Ventricular Dysplasia
Concept Malformations of Cortical Development
Concept Genetic Association Studies
Concept Fatal Outcome
Concept Genetic Diseases, X-Linked
Concept Incidental Findings
Concept Genetic Diseases, Inborn
Concept Pregnancy Complications
Concept Pyloric Stenosis
Concept Niemann-Pick Disease, Type C
Concept Sex Chromosome Aberrations
Concept Muscular Dystrophies, Limb-Girdle
Concept Prion Diseases
Concept Neurodegenerative Diseases
Concept Chromosome Disorders
Concept Asymptomatic Diseases
Concept Alzheimer Disease
Concept Chromosome Aberrations
Concept Hand Deformities, Congenital
Concept Menkes Kinky Hair Syndrome
Concept Malabsorption Syndromes
Concept Maple Syrup Urine Disease
Concept Monosomy
Concept Seizures
Concept Chromosome Breakage
Concept Rare Diseases
Concept Ovotesticular Disorders of Sex Development
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 Expanding newborn screening for lysosomal disorders: opportunities and challenges.
Academic Article Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.
Academic Article A population-based study of autosomal-recessive disease-causing mutations in a founder population.
Academic Article Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13.
Academic Article Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
Academic Article Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
Academic Article 4q21 microdeletion in a patient with epilepsy and brain malformations.
Academic Article A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.
Academic Article The Effect of the Testis on the Ovary: Structure-Function Relationships in a Neonate with a Unilateral Ovotestis (Ovotesticular Disorder of Sex Development)?.
Academic Article Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation.
Academic Article Developmental regulation of expression of C-reactive protein and serum amyloid A in Syrian hamsters.
Academic Article Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.
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).

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  • Developmental
  • Disorders