|Baylor College of Medicine||fellowship||Genetics||2002|
|Baylor College of Medicine||fellowship||Genetics||2001|
|Pennsylvania State University||residency||Pediatrics||1999|
|Pennsylvania State University||internship||Pediatrics||1997|
|AGA Kahn Medical College||medical school||Bachelor of Medicine & Surgery||1994|
CHARGE syndrome, clinical use of array-comparative genomic hybridization studies in birth defects including cardiovascular malformations
I?m interested in the application of molecular cytogenetic diagnostic tools such as array-comparative genomic hybridization (CGH), also known as chromosomal microarray analysis (CMA) in understanding the genetic basis of birth defects. Our laboratory is specifically interested in using CMA as a tool to identify candidate regions involved in cardiac patterning. Clinically significant CVMs occur in 5?8 per 1000 live births, yet, the cause of these malformations is unknown in ~85?90% of cases. Recurrent copy number variations are among the known causes of syndromic CVMs, accounting for an important fraction of cases. Our strategy has been to use array-CGH to identify genomic regions with copy number alterations that could be effectively investigated with candidate gene sequencing in a large cohort of individuals with specific CVM. Using this tool, we have identified genes underlying left ventricular outflow tract obstruction defects and Wolff-Parkinson-White syndrome (WPW). We have performed high-resolution genome-wide DNA copy number analyses in over 700 individuals with CVM and have identified novel loci that are involved in CVM.
We are also interested in studying low-frequency population-specific copy number variations linked to certain traits such as early language delay and autism spectrum disorders.
|American Board of Medical Genetics||Member|
|American Society of Human Genetics||Member|
|Scientific Advisory Board, CHARGE Syndrome Foundation||Member|
|Society of Pediatric Research||Member|
Lalani SR, Thakuria JV, Cox GF, Wang X, Bi W, Bray MS, Shaw C, Cheung SW, Chinault AC, Boggs BA, Ou Z, Brundage EK, Lupski JR, Gentile J, Waisbren S, Pursley A, Ma L, Khajavi M, Zapata G, Friedman R, Kim JJ, Towbin JA, Stankiewicz P, Schnittger S, Hansmann I, Ai T, Sood S, Wehrens XH, Martin JF, Belmont JW, Potocki L. 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. Journal of Medical Genetics 2009; 46:168-175.