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 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.
Internet resources in medical genetics.
(2014) Curr Protoc Hum Genet
. 2014 Jan 21;80:Unit 9.12.. doi: 10.1002/0471142905.hg0912s80. 24510683
Professional medical education and genomics.
(2014 Aug) Annu Rev Genomics Hum Genet
. 2014 Aug 31;15:507-16. doi: 10.1146/annurev-genom-090413-025522. Epub 2014 Mar 12. 24635717
Disclosure of Genetic Research Results to Members of a Founder Population.
(2014 Apr) J Genet Couns
. 2014 Apr 29. 24777552
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
(2014 Jan) Eur J Hum Genet
. 2014 Jan;22(1):57-63. doi: 10.1038/ejhg.2013.67. Epub 2013 May 1. 23632792
RUNX2 quadruplication: additional evidence toward a new form of syndromic craniosynostosis.
(2013 Jan) J Craniofac Surg
. 2013 Jan;24(1):126-9. doi: 10.1097/SCS.0b013e31826686d3. 23348268
A population-based study of autosomal-recessive disease-causing mutations in a founder population.
(2012 Oct) Am J Hum Genet
. 2012 Oct 5;91(4):608-20. doi: 10.1016/j.ajhg.2012.08.007. Epub 2012 Sep 13. 22981120
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.
(2011 Mar) Eur J Med Genet
. 2011 Mar-Apr;54(2):161-4. doi: 10.1016/j.ejmg.2010.11.002. Epub 2010 Nov 13. 21078420
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13.
(2008 Jun) Am J Med Genet A
. 2008 Jun 1;146A(11):1414-22. doi: 10.1002/ajmg.a.32307. 18446860
Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance.
(2008 Feb) Am J Med Genet A
. 2008 Feb 1;146A(3):354-60. doi: 10.1002/ajmg.a.32144. 18203180
Integration of internet-based genetic databases into the medical school pre-clinical and clinical curriculum.
(2006 Jun) Genet Med
. 2006 Jun;8(6):379-82. 16778600
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.
(2005 Nov) Pediatr Res
. 2005 Nov;58(5):981-6. Epub 2005 Sep 23. 16183809
NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.
(2005 Oct) Genet Med
. 2005 Oct;7(8):524-33. 16247291
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.
(2005 Aug) Am J Hum Genet
. 2005 Aug;77(2):193-204. Epub 2005 Jun 7. 15942875
Calibration of 6q subtelomere deletions to define genotype/phenotype correlations.
(2005 May) Clin Genet
. 2005 May;67(5):396-403. 15811006
"Molecular rulers" for calibrating phenotypic effects of telomere imbalance.