Professor of Human Genetics and Pediatrics
Department of Human Genetics
Department of Pediatrics
M.D. Washington University School of Medicine 1992
Fax: (773) 834-0556
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 clinic, Craniofacial clinic, and Neurogenetics 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 Medical Genetics Residency Training Program, the Molecular Genetic Pathology Program, and the Genetics Laboratory Training Program in molecular and cytogenetics. 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.
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.
RUNX2 quadruplication: additional evidence toward a new form of syndromic craniosynostosis.
(Jan 2013) The Journal of craniofacial surgery 24(1):126-9 PMID:23348268
A population-based study of autosomal-recessive disease-causing mutations in a founder population.
Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13.
(Jun 2008) American journal of medical genetics. Part A 146A(11):1414-22 PMID:18446860
Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance.
(Feb 2008) American journal of medical genetics. Part A 146(3):354-60 PMID:18203180
Integration of internet-based genetic databases into the medical school pre-clinical and clinical curriculum.
(Jun 2006) Genetics in medicine : official journal of the American College of Medical Genetics 8(6):379-82 PMID:16778600
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.
(Nov 2005) Pediatric research 58(5):981-6 PMID:16183809
NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.
(Oct 2005) Genetics in medicine : official journal of the American College of Medical Genetics 7(8):524-33 PMID:16247291
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.
Calibration of 6q subtelomere deletions to define genotype/phenotype correlations.
(May 2005) Clinical genetics 67(5):396-403 PMID:15811006
"Molecular rulers" for calibrating phenotypic effects of telomere imbalance.
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype.
European journal of medical genetics 54(2):161-4 PMID:21078420