Autistic Disorder; Brain Diseases; Child Development Disorders, Pervasive; Neurobiology; Rare Diseases; Genetic Research; Pluripotent Stem Cells
Child Study Center: Center for Translational Developmental Neuroscience (CTDN)
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 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.
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.
Gupta AR and State MW. (2006) “Autism: genetics,” Brazilian Journal of Psychiatry 28: S29-38.
Full List of PubMed Publications
- 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 KA: Neurogenetic analysis of childhood disintegrative disorder. Mol Autism. 2017; 2017 Apr 4. PMID: 28392909
- Ercan-Sencicek AG, Jambi S, Franjic D, Nishimura S, Li M, El-Fishawy P, Morgan TM, Sanders SJ, Bilguvar K, Suri M, Johnson MH, Gupta AR, Yuksel Z, Mane S, Grigorenko E, Picciotto M, Alberts AS, Gunel M, Šestan N, State MW: Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. Eur J Hum Genet. 2015 Feb; 2014 Apr 30. PMID: 24781755
- Murdoch JD, Gupta AR, Sanders SJ, Walker MF, Keaney J, Fernandez TV, Murtha MT, Anyanwu S, Ober GT, Raubeson MJ, DiLullo NM, Villa N, Waqar Z, Sullivan C, Gonzalez L, Willsey AJ, Choe SY, Neale BM, Daly MJ, State MW: No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins. PLoS Genet. 2015 Jan; 2015 Jan 26. PMID: 25621974
- Dong S, Walker MF, Carriero NJ, DiCola M, Willsey AJ, Ye AY, Waqar Z, Gonzalez LE, Overton JD, Frahm S, Keaney JF 3rd, Teran NA, Dea J, Mandell JD, Hus Bal V, Sullivan CA, DiLullo NM, Khalil RO, Gockley J, Yuksel Z, Sertel SM, Ercan-Sencicek AG, Gupta AR, Mane SM, Sheldon M, Brooks AI, Roeder K, Devlin B, State MW, Wei L, Sanders SJ: De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder. Cell Rep. 2014 Oct 9; 2014 Oct 2. PMID: 25284784
- 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: Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. Mol Autism. 2014; 2014 Apr 29. PMID: 24860643
- Willsey AJ, Sanders SJ, Li M, Dong S, Tebbenkamp AT, Muhle RA, Reilly SK, Lin L, Fertuzinhos S, Miller JA, Murtha MT, Bichsel C, Niu W, Cotney J, Ercan-Sencicek AG, Gockley J, Gupta AR, Han W, He X, Hoffman EJ, Klei L, Lei J, Liu W, Liu L, Lu C, Xu X, Zhu Y, Mane SM, Lein ES, Wei L, Noonan JP, Roeder K, Devlin B, Sestan N, State MW: Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. Cell. 2013 Nov 21. PMID: 24267886
- Sanders SJ, Murtha MT, 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 RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW: De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature. 2012 Apr 4; 2012 Apr 4. PMID: 22495306
- Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Günel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH Jr, Geschwind D, Roeder K, Devlin B, State MW: Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 2011 Jun 9. PMID: 21658581
- Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, Biederer T, Gunel M, Lifton RP, State MW: Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet. 2008 Jan. PMID: 18179895
- Gupta AR, State MW: Recent advances in the genetics of autism. Biol Psychiatry. 2007 Feb 15; 2006 Sep 25. PMID: 16996486
- Gupta AR, State MW: [Autism: genetics]. Rev Bras Psiquiatr. 2006 May; 2006 Jun 12. PMID: 16791389