Abha R Gupta, MD, PhD

Associate Research Scientist in Pediatrics (General Pediatrics) and in the Child Study Center

Research Interests

Autism Spectrum Disorders; Regression; Human genetics; Neuroscience

Research Summary

Abha Gupta is interested in the genetic basis and neurobiology of autism spectrum disorders (ASDs).

Extensive Research Description

Abha Gupta is investigating the genetic basis and neurobiology of autism spectrum disorders (ASDs). She is especially interested in regression in autism and is collaborating with research groups at the Child Study Center on an imaging genomics project on late-onset, severe regressive autism.

Selected Publications

  • 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.
  • Volkmar FR, Westphal A, Gupta AR, Wiesner L. (2008) “Medical issues associated with ASD” in Chawarska K, Klin A, Volkmar F (eds) Autism Spectrum Disorders in Infants and Toddlers: Diagnosis, Assessment and Treatment. New York: Guilford Press.
  • Gupta AR and State MW. (2007) “Recent Advances in the Genetics of Autism,” Biological Psychiatry 61(4): 429-437.
  • Gupta AR and State MW. (2006) “Autism: genetics,” Brazilian Journal of Psychiatry 28: S29-38.

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