Stephen Williams

Research Interests

My research interests focus on the genetic contributors to stroke risk.  Stroke is the third leading cause of death in the United States and presents a significant health burden to all of us.  Our aim is to parse out the genetic and epigenetic risk factors for cerebrovascular disease.  Specifically, I am interested in investigating the pathogenesis of stroke risk using molecular, genomic and proteomic tools.

Selected Publications

Girirajan S, Williams SR, Garbern JY, Hatchwell E, and Elsea SH.  17p11.2 triplication and del(17)(q11.2q12) in a severely affected child with dup(17)(p11.2p12) syndrome. Clinical Genetics, 2007, 72:47-58.

Truong HT, Kohal SS, Baker KR, Girirajan S, Williams SR, Vlangos CN, Bunyan DJ, Smith ACM, Blanchard CL, and Elsea SH.  Diagnosing Smith-Magenis Syndrome and Duplication 17p11.2 Syndrome by RAI1 Gene Copy Number Variation Using Quantitative Real-time PCR.  Genetic Testing. 2008 Mar;12(1):67-73.

Girirajan S*, Hauck PM*, Williams SR, Vlangos CN, McCoy KL, White KL, and Elsea SH.  Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunological response.  Mammalian Genome, 008 Apr;19(4):246-62. Epub 2008 Mar 15. *contributed equally.

Stephen R. Williams, Santhosh Girirajan, David Tegay, Norma Nowak, Eli Hatchwell, and Sarah H. Elsea.  “Array comparative genomic hybridization of 52 subjects with a Smith-Magenis-like phenotype:  identification of dosage-sensitive loci also associated with schizophrenia, autism, and developmental delay” Journal of Medical Genetics, 2010 Apr;47(4):223-9. Epub 2009 Sep 14

Stephen R. Williams, Sureni V. Mullegama, Jill A. Rosenfeld, Aditi I. Dagli, Eli Hatchwell, William P. Allen, Charles A. Williams, and Sarah H. Elsea.  “Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.” European Journal of Human Genetics 2010 Apr;18(4):436-41. Epub 2009 Nov 11.

Burns B, Schmidt K, Williams SR, Kim S, Girirajan S, Elsea SH.  “Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome.”  Human and Molecular Genetics. 2010 Oct 15;19(20):4026-42. Epub 2010 Jul 27.

Sarah H. Elsea^* and Stephen R. Williams^*.  “Smith-Magenis syndrome:  Haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.”  Expert Reviews in Molecular Medicine, Vol. 13; e14; April 2011.  ^*Authors contributed equally

Stephen R. Williams, Deborah Zies, Sureni V. Mullegama, Michael S. Grotewiel, and Sarah H. Elsea.  “Smith-Magenis syndrome results in disruption ofCLOCKgene transcription and reveals an integral role for RAI1 in the maintenance of the circadian rhythmicity.”  The American Journal of Human Genetics, 2012 June;90(6):941–949.  Epub 2012 May 9.

Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR, Zondag S, Toriello HV, Magenis RE, Elsea SH.  “Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems.”  The American Journal of Human Genetics, Volume 87, Issue 2, 219-228, 05 August 2010.

Edit My Profile -->