Abha R Gupta, MD, PhD

Assistant Professor of Pediatrics (General Pediatrics)

Research Interests

Autistic Disorder; Brain Diseases; Child Development Disorders, Pervasive; Neurobiology; Rare Diseases; Genetic Research; Pluripotent Stem Cells

Research Organizations

Pediatrics: General Pediatrics

Child Study Center: Center for Translational Developmental Neuroscience (CTDN)

Faculty Research

Research Summary

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

Extensive Research Description

Abha Gupta is investigating the genetic basis and neurobiology of autism spectrum disorder (ASD). 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, also known as Childhood Disintegrative Disorder (CDD). Her laboratory is also pursuing stem cells modeling of autism-associated genetic mutations through the use of induced pluripotent stem cells (iPSCs) and genome editing.

Selected Publications

  • Rare deleterious mutations of the gene EFR3A in autism spectrum disorders,

    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.

  • Disruptive de novo point mutations, revealed by whole-exome sequencing, are strongly associated with autism spectrum disorders. 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.
  • Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.

    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.

  • Medical issues associated with ASD 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.
  • Recent Advances in the Genetics of Autism.

    Gupta AR and State MW. (2007) “Recent Advances in the Genetics of Autism,” Biological Psychiatry 61(4): 429-437.

  • Autism: genetics.

    Gupta AR and State MW. (2006) “Autism: genetics,” Brazilian Journal of Psychiatry 28: S29-38.

  • Neurogenetic analysis of childhood disintegrative disorder

    Gupta AR, Westphal A, Yang DYJ, Sullivan CAW, Eilbott J, Zaidi S, Voos A, Vander Wyk BC, Ventola P, Waqar Z, Fernandez TV, Ercan-Sencicek AG, Walker MF, Choi M, Schneider A, Hedderly T, Baird G, Friedman H, Cordeaux, C, Ristow, A, Shic F, Volkmar FR, Pelphrey K (2017) Neurogenetic Analysis of Childhood Disintegrative Disorder, Mol Autism 8:19.

Full List of PubMed Publications

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Contact Info

Abha R Gupta, MD, PhD
Patient Care Location
Yale Pediatric Specialty Center1 Long Wharf Drive
New Haven, CT 06511
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Mailing Address
PO Box 208064
New Haven, CT 06520-8064