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Waggoner, Darrel J.

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

Property	Value
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.

Property

Value

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 Type	Name
Concept	Alleles
Concept	Amino Acid Sequence
Concept	Base Sequence
Concept	Genes, Dominant
Concept	Genes, Lethal
Concept	Genes, Recessive
Concept	Molecular Sequence Data
Concept	Sequence Homology, Amino Acid
Concept	Euchromatin
Concept	RNA Splice Sites
Concept	Sequence Analysis, DNA
Concept	Sequence Deletion
Concept	Exome
Concept	Terminal Repeat Sequences
Concept	High-Throughput Nucleotide Sequencing
Concept	Genome, Human
Academic Article	Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.
Academic Article	TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.
Academic Article	Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.
Academic Article	Calibration of 6q subtelomere deletions to define genotype/phenotype correlations.
Academic Article	Haploinsufficiency of TAB2 causes congenital heart defects in humans.
Academic Article	Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.
Academic Article	A population-based study of autosomal-recessive disease-causing mutations in a founder population.
Academic Article	RUNX2 quadruplication: additional evidence toward a new form of syndromic craniosynostosis.
Academic Article	Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
Academic Article	Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence.
Academic Article	Internet resources in medical genetics.
Academic Article	The role of copper in neurodegenerative disease.
Academic Article	Chromosomal localization of CCS, the copper chaperone for Cu/Zn superoxide dismutase.
Academic Article	A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.
Academic Article	Recommendations for the integration of genomics into clinical practice.
Academic Article	Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.

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Exome
sequencing