Abha R Gupta, MD, PhD
Associate Research Scientist in Pediatrics (General Pediatrics) and in the Child Study Center
Departments & Organizations
Autism Spectrum Disorders; Regression; Human genetics; Neuroscience more...
- Ph.D., University of Pennsylvania School of Medicine, 05/2001
- Ph.D., University of Pennsylvania, 2001
- M.D., University of Pennsylvania Medical School, 2001
- Gupta AR, Pirruccello M, Cheng F, Kang HJ, Fernandez TV, Baskin JM, Choi M, Liu L, Ercan-Sencicek AG, Murdoch JD, Klei L, Neale BM, Franjic D, Daly MJ, Lifton RP, De Camilli P, Zhao H, Sestan N, State MW. (2014) Rare deleterious mutations of the gene EFR3A in autism spectrum disorders, Mol Autism 5:31.
- Sanders SJ, Murtha M, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha R, Choi M, Overton JD, Bjornson RD, Carrierio NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Gunel M, Roeder K, Geschwind DH, Devlin B, State MW. (2012) Disruptive de novo point mutations, revealed by whole-exome sequencing, are strongly associated with autism spectrum disorders, Nature 485(7397): 237-241.
- Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG. (2012) Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy, Science 338(6105): 394-397.