- Yale Child Study Center350 George StreetNew Haven, CT 06511
Abha Gupta, MD, PhD
Biography
Long before autism became a household word, Abha R. Gupta, MD, PhD, was fascinated by a one-page article about the condition she randomly encountered in a news magazine.
“I was intrigued and struck by how autism affects some of our most human abilities, such as social relatedness and abstract language,” recalls Dr. Gupta, who at the time was pursuing her doctorate degree in neuroscience. “I didn’t know anyone with autism, so my interest came from a neuroscientist’s perspective.”
That interest drove Dr. Gupta to specialize in developmental-behavioral pediatrics. Then she began researching the genetic links to autism. Over the years, she has developed great respect for parents and families of children with the condition. “I appreciate how difficult this diagnosis is for families,” Dr. Gupta says. “My inability to give parents clear answers as to what causes autism, because of the state of the science, motivates me and provides a sense of urgency to do autism research in the lab.”
As the attending physician in the Fast Track Autism Clinic at Yale Medicine, Dr. Gupta evaluates children (ages 18 months to 5 ½ years old) to determine whether they meet criteria for autism. She particularly enjoys using play sessions with children as a way to detect delays or disabilities. “What other pediatric specialty can claim to be more fun?” asks Dr. Gupta, who is an assistant professor of pediatrics (general pediatrics) at Yale School of Medicine.
The hardest part of her job, she says, is telling parents that their child has autism. “It is often emotionally draining for everyone involved,” she says, adding that she balances the diagnosis by bringing attention to a child’s strengths, too. “They are not defined by their disability. I tell parents they are doing great by their child by bringing them to our clinic so we can determine the diagnosis and come up with a plan of action. I emphasize that we are here to help advocate for their child. They should never feel alone navigating the school system or service agencies to ensure they receive all the help they need.”
Titles
- Associate Professor of Pediatrics (General Pediatrics/ DBP)
- Associate Professor, Neuroscience
- Associate Professor, Child Study Center
Education & Training
- FellowshipYale University School of Medicine (2007)
- FellowshipChildren's Hospital of Philadelphia (2005)
- ResidencyChildren's Hospital of Philadelphia (2004)
- PhDUniversity of Pennsylvania School of Medicine, Neuroscience (2001)
- MDUniversity of Pennsylvania Medical School (2001)
Languages Spoken
- English
- हिन्दी (Hindi)
Additional Information
- Arutiunian V, Sullivan CAW, Santhosh M, Neuhaus E, Borland H, Bernier RA, Bookheimer SY, Dapretto M, Jack A, Jeste S, McPartland JC, Naples A, Van Horn JD, Pelphrey KA, Webb SJ, Gupta AR. Excitation/inhibition balance subtypes in autism and their genetic, neural, and clinical profiles. Journal Of Neural Transmission 2026 DOI: 10.1007/s00702-026-03283-0.
- Arutiunian V, Santhosh M, Neuhaus E, Borland H, Bernier R, Bookheimer S, Dapretto M, Gupta A, Jack A, Jeste S, McPartland J, Naples A, Van Horn J, Pelphrey K, Webb S. Altered aperiodic EEG spectral power during speech perception task is associated with verbal communication in youths with Autism Spectrum Disorder. Scientific Reports 2026, 16: 28881. PMID: 42362667, DOI: 10.1038/s41598-026-59415-9.
- Yang Y, Shim Y, Miyake N, Takada S, Silva S, Peters-Foitzick A, Gupta A, Neuhaus E, Bradley C, Taylor C, Russell B, Shrewsbury A, Michaelson J, Murali C, Gerard A, Geltzeiler A, Chung W, Chung H. Loss-of-function variants in MARK2 cause neurodevelopmental disorder. Human Genetics And Genomics Advances 2026, 7: 100600. PMID: 41918168, PMCID: PMC13127627, DOI: 10.1016/j.xhgg.2026.100600.
- Arutiunian V, Opdahl M, Sullivan C, Santhosh M, Neuhaus E, Borland H, Bernier R, Bookheimer S, Dapretto M, Jack A, Jeste S, McPartland J, Naples A, Van Horn J, Pelphrey K, Webb S, Gupta A. Number of Alpha Peaks in the Electroencephalogram Is Associated With Clinical Phenotype and Copy Number Variants in Youths With Autism. Biological Psychiatry Cognitive Neuroscience And Neuroimaging 2025, 11: 300-309. PMID: 41101705, PMCID: PMC12959347, DOI: 10.1016/j.bpsc.2025.10.001.
- Pruitt A, Gupta A, Hoffman E. Molecular and Genetic Mechanisms in Autism Spectrum Disorder. Annals Of Neurology 2025, 98: 1163-1177. PMID: 40801227, PMCID: PMC13159706, DOI: 10.1002/ana.70013.
- Jack A, McQuaid G, Gupta A. Neurogenetics of Autism Spectrum Conditions in Individuals Assigned Female at Birth. 2024, 49-79. DOI: 10.1007/978-3-031-62072-0_5.
- Arutiunian V, Santhosh M, Neuhaus E, Sullivan C, Bernier R, Bookheimer S, Dapretto M, Geschwind D, Jack A, McPartland J, Van Horn J, Pelphrey K, Gupta A, Webb S, Network T. A common genetic variant in the Neurexin family member CNTNAP2 is related to language but not communication skills in youth with Autism Spectrum Disorder. Autism Research 2024, 18: 898-908. PMID: 38984666, PMCID: PMC11717989, DOI: 10.1002/aur.3193.
- Arutiunian V, Santhosh M, Neuhaus E, Borland H, Tompkins C, Bernier R, Bookheimer S, Dapretto M, Gupta A, Jack A, Jeste S, McPartland J, Naples A, Van Horn J, Pelphrey K, Webb S. The relationship between gamma-band neural oscillations and language skills in youth with Autism Spectrum Disorder and their first-degree relatives. Molecular Autism 2024, 15: 19. PMID: 38711098, PMCID: PMC11075235, DOI: 10.1186/s13229-024-00598-1.
- Fernandez T, Williams Z, Kline T, Rajendran S, Augustine F, Wright N, Sullivan C, Olfson E, Abdallah S, Liu W, Hoffman E, Gupta A, Singer H. Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene. PLOS ONE 2023, 18: e0291978. PMID: 37788244, PMCID: PMC10547198, DOI: 10.1371/journal.pone.0291978.
- Dvornek N, Sullivan C, Duncan J, Gupta A. Copy Number Variation Informs fMRI-Based Prediction of Autism Spectrum Disorder. Lecture Notes In Computer Science 2023, 14312: 133-142. PMID: 38371906, PMCID: PMC10868600, DOI: 10.1007/978-3-031-44858-4_13.
- Enriquez KD, Gupta AR, Hoffman EJ. Signaling Pathways and Sex Differential Processes in Autism Spectrum Disorder. Frontiers In Psychiatry 2021, 12: 716673. PMID: 34690830, PMCID: PMC8531220, DOI: 10.3389/fpsyt.2021.716673.
- Hoang P, Kowalczewski A, Sun S, Winston TS, Archilla AM, Lemus SM, Ercan-Sencicek AG, Gupta AR, Liu W, Kontaridis MI, Amack JD, Ma Z. Engineering spatial-organized cardiac organoids for developmental toxicity testing. Stem Cell Reports 2021, 16: 1228-1244. PMID: 33891865, PMCID: PMC8185451, DOI: 10.1016/j.stemcr.2021.03.013.
- Jack A, Sullivan CAW, Aylward E, Bookheimer SY, Dapretto M, Gaab N, Van Horn JD, Eilbott J, Jacokes Z, Torgerson CM, Bernier RA, Geschwind DH, McPartland JC, Nelson CA, Webb SJ, Pelphrey KA, Gupta AR, Bernier R, McPartland J, Ventola P, Kresse A, Neuhaus E, Corrigan S, Wolf J, McDonald N, Ankenman K, Webb S, Jeste S, Nelson C, Naples A, Libsack E, Pelphrey K, Aylward E, Bookheimer S, Gaab N, Dapretto M, Van Horn J, Jack A, Guilford D, Torgerson C, Welker O, Geschwind D, Gupta A, Sullivan C, Lowe J, Jacokes Z, MacDonnell E, Tsapelas H, Depedro-Mercier D, Keifer C, Ventola P. A neurogenetic analysis of female autism. Brain 2021, 144: 1911-1926. PMID: 33860292, PMCID: PMC8320285, DOI: 10.1093/brain/awab064.
- Gupta A, DiLullo N. Neuroligins. 2021, 3135-3137. DOI: 10.1007/978-3-319-91280-6_1334.
- Song Y, Gupta A. Candidate Genes in Autism. 2021, 803-807. DOI: 10.1007/978-3-319-91280-6_1317.
- Gupta A. Chromosome 15q11–q13. 2021, 953-954. DOI: 10.1007/978-3-319-91280-6_419.
- DiLullo N, Gupta A. Angelman/Prader-Willi Syndromes. 2021, 202-205. DOI: 10.1007/978-3-319-91280-6_1316.
- Gupta A. Epicanthic Fold. 2021, 1809-1810. DOI: 10.1007/978-3-319-91280-6_1325.
- Assali A, Cho JY, Tsvetkov E, Gupta AR, Cowan CW. Sex-dependent role for EPHB2 in brain development and autism-associated behavior. Neuropsychopharmacology 2021, 46: 2021-2029. PMID: 33649502, PMCID: PMC8429442, DOI: 10.1038/s41386-021-00986-8.
- Voliovitch Y, Leventhal JM, Fenick AM, Gupta AR, Feinberg E, Hickey EJ, Shabanova V, Weitzman C. Parenting Stress and its Associated Components Prior to an Autism Spectrum Disorder (ASD) Diagnostic Evaluation. Journal Of Autism And Developmental Disorders 2021, 51: 3432-3442. PMID: 33387245, DOI: 10.1007/s10803-020-04804-w.
- Herrero MJ, Velmeshev D, Hernandez-Pineda D, Sethi S, Sorrells S, Banerjee P, Sullivan C, Gupta AR, Kriegstein AR, Corbin JG. Identification of amygdala-expressed genes associated with autism spectrum disorder. Molecular Autism 2020, 11: 39. PMID: 32460837, PMCID: PMC7251751, DOI: 10.1186/s13229-020-00346-1.
- Cappi C, Oliphant ME, Péter Z, Zai G, do Rosário M, Sullivan CAW, Gupta AR, Hoffman EJ, Virdee M, Olfson E, Abdallah SB, Willsey AJ, Shavitt RG, Miguel EC, Kennedy JL, Richter MA, Fernandez TV. De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette’s Disorder and Autism. Biological Psychiatry 2019, 87: 1035-1044. PMID: 31771860, PMCID: PMC7160031, DOI: 10.1016/j.biopsych.2019.09.029.
- Goodrich M, Armour AC, Panchapakesan K, You X, Devaney J, Knoblach S, Sullivan CAW, Herrero MJ, Gupta AR, Vaidya CJ, Kenworthy L, Corbin JG. PAC1R Genotype to Phenotype Correlations in Autism Spectrum Disorder. Autism Research 2018, 12: 200-211. PMID: 30556326, PMCID: PMC6665682, DOI: 10.1002/aur.2051.
- 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. Molecular Autism 2017, 8: 19. PMID: 28392909, PMCID: PMC5379515, DOI: 10.1186/s13229-017-0133-0.
- 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 Genetics 2015, 11: e1004852. PMID: 25621974, PMCID: PMC4306541, DOI: 10.1371/journal.pgen.1004852.
- Griesi-Oliveira K, Acab A, Gupta AR, Sunaga DY, Chailangkarn T, Nicol X, Nunez Y, Walker MF, Murdoch JD, Sanders SJ, Fernandez TV, Ji W, Lifton RP, Vadasz E, Dietrich A, Pradhan D, Song H, Ming GL, Gu X, Haddad G, Marchetto MC, Spitzer N, Passos-Bueno MR, State MW, Muotri AR. Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons. Molecular Psychiatry 2014, 20: 1350-1365. PMID: 25385366, PMCID: PMC4427554, DOI: 10.1038/mp.2014.141.
- Dong S, Walker MF, Carriero NJ, DiCola M, Willsey AJ, Ye AY, Waqar Z, Gonzalez LE, Overton JD, Frahm S, Keaney JF, Teran NA, Dea J, Mandell JD, 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 Reports 2014, 9: 16-23. PMID: 25284784, PMCID: PMC4194132, DOI: 10.1016/j.celrep.2014.08.068.
- 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. European Journal Of Human Genetics 2014, 23: 165-172. PMID: 24781755, PMCID: PMC4297910, DOI: 10.1038/ejhg.2014.82.
- 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, Šestan N, State MW. Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. Molecular Autism 2014, 5: 31. PMID: 24860643, PMCID: PMC4032628, DOI: 10.1186/2040-2392-5-31.
- Volkmar F, Rowberry J, De Vinck‐Baroody O, Gupta A, Leung J, Meyers J, Vaswani N, Wiesner L. Medical Care in Autism and Related Conditions. 2014 DOI: 10.1002/9781118911389.hautc22.
- 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, 155: 997-1007. PMID: 24267886, PMCID: PMC3995413, DOI: 10.1016/j.cell.2013.10.020.
- Gupta A. Chromosome 15q11–q13. 2013, 639-640. DOI: 10.1007/978-1-4419-1698-3_419.
- Song Y, Gupta A. Candidate Genes in Autism. 2013, 516-519. DOI: 10.1007/978-1-4419-1698-3_1317.
- Gupta A, DiLullo N. Neuroligins. 2013, 2015-2017. DOI: 10.1007/978-1-4419-1698-3_1334.
- Gupta A. Epicanthic Fold. 2013, 1131-1131. DOI: 10.1007/978-1-4419-1698-3_1325.
- DiLullo N, Gupta A. Angelman/Prader-Willi Syndromes. 2013, 157-160. DOI: 10.1007/978-1-4419-1698-3_1316.
- 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. Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy. Science 2012, 338: 394-397. PMID: 22956686, PMCID: PMC3704165, DOI: 10.1126/science.1224631.
- 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, Šestan 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, 485: 237-241. PMID: 22495306, PMCID: PMC3667984, DOI: 10.1038/nature10945.
- 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, 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, 70: 863-885. PMID: 21658581, PMCID: PMC3939065, DOI: 10.1016/j.neuron.2011.05.002.
- Ghosh AG, Abbott AA, Gupta AK, King K, Singer BJ, Morgan CE, Cho T, Stillman A, Pauls RA, Loring DL, Louvi JA, Bilguvar GA, O'Roak HS, Mason DL, Tischfield PJ, Heiman TM, Gilbert E, Hoekstra K, Yasuno T, Fernandez S, Sanders A, Mane JH, Colangelo S, Biederer CM, Lifton T, Gunel RP, State M, Ercan-Sencicek MW. L-Histidine Decarboxylase and Tourette's Syndrome. The New England Journal Of Medicine 2010, 362: 1901-1908. PMID: 20445167, PMCID: PMC2894694, DOI: 10.1056/nejmoa0907006.
- Medical issues associated with ASDVolkmar 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.
- 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. American Journal Of Human Genetics 2008, 82: 165-173. PMID: 18179895, PMCID: PMC2253974, DOI: 10.1016/j.ajhg.2007.09.017.
- Gupta AR, State MW. Recent Advances in the Genetics of Autism. Biological Psychiatry 2006, 61: 429-437. PMID: 16996486, DOI: 10.1016/j.biopsych.2006.06.020.
- Gupta AR, State MW. Autismo: genética. Brazilian Journal Of Psychiatry 2006, 28: s29-s38. PMID: 16791389, DOI: 10.1590/s1516-44462006000500005.
- Gupta AR, Dejneka NS, D'Amato RJ, Yang Z, Syed N, Maguire AM, Bennett J. Strain-dependent anterior segment neovascularization following intravitreal gene transfer of basic fibroblast growth factor (bFGF). The Journal Of Gene Medicine 2001, 3: 252-9. PMID: 11437330, DOI: 10.1002/1521-2254(200105/06)3:3<252::AID-JGM185>3.0.CO;2-S.
- Gupta AR, Dejneka NS, Maguire AM, Bennett J. Generation of transgenic mice for studies of ocular development and disease. Methods In Molecular Medicine 2001, 47: 191-214. PMID: 21394586, DOI: 10.1385/1-59259-085-3:191.
- Bennett J, Zeng Y, Gupta AR, Maguire AM. Application of adenoviral vectors. Analysis of eye development. Methods In Molecular Biology (Clifton, N.J.) 2000, 135: 525-35. PMID: 10791347, DOI: 10.1385/1-59259-685-1:525.
- Nesbit M, Nesbit HK, Bennett J, Andl T, Hsu MY, Dejesus E, McBrian M, Gupta AR, Eck SL, Herlyn M. Basic fibroblast growth factor induces a transformed phenotype in normal human melanocytes. Oncogene 1999, 18: 6469-76. PMID: 10597249, DOI: 10.1038/sj.onc.1203066.
- Bennett J, Maguire AM, Cideciyan AV, Schnell M, Glover E, Anand V, Aleman TS, Chirmule N, Gupta AR, Huang Y, Gao GP, Nyberg WC, Tazelaar J, Hughes J, Wilson JM, Jacobson SG. Stable transgene expression in rod photoreceptors after recombinant adeno-associated virus-mediated gene transfer to monkey retina. Proceedings Of The National Academy Of Sciences Of The United States Of America 1999, 96: 9920-5. PMID: 10449795, PMCID: PMC22311, DOI: 10.1073/pnas.96.17.9920.
- Zeng Y, Rosborough RC, Li Y, Gupta AR, Bennett J. Temporal and spatial regulation of gene expression mediated by the promoter for the human tissue inhibitor of metalloproteinases-3 (TIMP-3)-encoding gene. Developmental Dynamics : An Official Publication Of The American Association Of Anatomists 1998, 211: 228-37. PMID: 9520110, DOI: 10.1002/(SICI)1097-0177(199803)211:3<228::AID-AJA4>3.0.CO;2-J.
- 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.
- Yale Child Study Center350 George StreetNew Haven, CT 06511
Biography
Long before autism became a household word, Abha R. Gupta, MD, PhD, was fascinated by a one-page article about the condition she randomly encountered in a news magazine.
“I was intrigued and struck by how autism affects some of our most human abilities, such as social relatedness and abstract language,” recalls Dr. Gupta, who at the time was pursuing her doctorate degree in neuroscience. “I didn’t know anyone with autism, so my interest came from a neuroscientist’s perspective.”
That interest drove Dr. Gupta to specialize in developmental-behavioral pediatrics. Then she began researching the genetic links to autism. Over the years, she has developed great respect for parents and families of children with the condition. “I appreciate how difficult this diagnosis is for families,” Dr. Gupta says. “My inability to give parents clear answers as to what causes autism, because of the state of the science, motivates me and provides a sense of urgency to do autism research in the lab.”
As the attending physician in the Fast Track Autism Clinic at Yale Medicine, Dr. Gupta evaluates children (ages 18 months to 5 ½ years old) to determine whether they meet criteria for autism. She particularly enjoys using play sessions with children as a way to detect delays or disabilities. “What other pediatric specialty can claim to be more fun?” asks Dr. Gupta, who is an assistant professor of pediatrics (general pediatrics) at Yale School of Medicine.
The hardest part of her job, she says, is telling parents that their child has autism. “It is often emotionally draining for everyone involved,” she says, adding that she balances the diagnosis by bringing attention to a child’s strengths, too. “They are not defined by their disability. I tell parents they are doing great by their child by bringing them to our clinic so we can determine the diagnosis and come up with a plan of action. I emphasize that we are here to help advocate for their child. They should never feel alone navigating the school system or service agencies to ensure they receive all the help they need.”
Titles
- Associate Professor of Pediatrics (General Pediatrics/ DBP)
- Associate Professor, Neuroscience
- Associate Professor, Child Study Center
Education & Training
- FellowshipYale University School of Medicine (2007)
- FellowshipChildren's Hospital of Philadelphia (2005)
- ResidencyChildren's Hospital of Philadelphia (2004)
- PhDUniversity of Pennsylvania School of Medicine, Neuroscience (2001)
- MDUniversity of Pennsylvania Medical School (2001)
Languages Spoken
- English
- हिन्दी (Hindi)
Additional Information
- Arutiunian V, Sullivan CAW, Santhosh M, Neuhaus E, Borland H, Bernier RA, Bookheimer SY, Dapretto M, Jack A, Jeste S, McPartland JC, Naples A, Van Horn JD, Pelphrey KA, Webb SJ, Gupta AR. Excitation/inhibition balance subtypes in autism and their genetic, neural, and clinical profiles. Journal Of Neural Transmission 2026 DOI: 10.1007/s00702-026-03283-0.
- Arutiunian V, Santhosh M, Neuhaus E, Borland H, Bernier R, Bookheimer S, Dapretto M, Gupta A, Jack A, Jeste S, McPartland J, Naples A, Van Horn J, Pelphrey K, Webb S. Altered aperiodic EEG spectral power during speech perception task is associated with verbal communication in youths with Autism Spectrum Disorder. Scientific Reports 2026, 16: 28881. PMID: 42362667, DOI: 10.1038/s41598-026-59415-9.
- Yang Y, Shim Y, Miyake N, Takada S, Silva S, Peters-Foitzick A, Gupta A, Neuhaus E, Bradley C, Taylor C, Russell B, Shrewsbury A, Michaelson J, Murali C, Gerard A, Geltzeiler A, Chung W, Chung H. Loss-of-function variants in MARK2 cause neurodevelopmental disorder. Human Genetics And Genomics Advances 2026, 7: 100600. PMID: 41918168, PMCID: PMC13127627, DOI: 10.1016/j.xhgg.2026.100600.
- Arutiunian V, Opdahl M, Sullivan C, Santhosh M, Neuhaus E, Borland H, Bernier R, Bookheimer S, Dapretto M, Jack A, Jeste S, McPartland J, Naples A, Van Horn J, Pelphrey K, Webb S, Gupta A. Number of Alpha Peaks in the Electroencephalogram Is Associated With Clinical Phenotype and Copy Number Variants in Youths With Autism. Biological Psychiatry Cognitive Neuroscience And Neuroimaging 2025, 11: 300-309. PMID: 41101705, PMCID: PMC12959347, DOI: 10.1016/j.bpsc.2025.10.001.
- Pruitt A, Gupta A, Hoffman E. Molecular and Genetic Mechanisms in Autism Spectrum Disorder. Annals Of Neurology 2025, 98: 1163-1177. PMID: 40801227, PMCID: PMC13159706, DOI: 10.1002/ana.70013.
- Jack A, McQuaid G, Gupta A. Neurogenetics of Autism Spectrum Conditions in Individuals Assigned Female at Birth. 2024, 49-79. DOI: 10.1007/978-3-031-62072-0_5.
- Arutiunian V, Santhosh M, Neuhaus E, Sullivan C, Bernier R, Bookheimer S, Dapretto M, Geschwind D, Jack A, McPartland J, Van Horn J, Pelphrey K, Gupta A, Webb S, Network T. A common genetic variant in the Neurexin family member CNTNAP2 is related to language but not communication skills in youth with Autism Spectrum Disorder. Autism Research 2024, 18: 898-908. PMID: 38984666, PMCID: PMC11717989, DOI: 10.1002/aur.3193.
- Arutiunian V, Santhosh M, Neuhaus E, Borland H, Tompkins C, Bernier R, Bookheimer S, Dapretto M, Gupta A, Jack A, Jeste S, McPartland J, Naples A, Van Horn J, Pelphrey K, Webb S. The relationship between gamma-band neural oscillations and language skills in youth with Autism Spectrum Disorder and their first-degree relatives. Molecular Autism 2024, 15: 19. PMID: 38711098, PMCID: PMC11075235, DOI: 10.1186/s13229-024-00598-1.
- Fernandez T, Williams Z, Kline T, Rajendran S, Augustine F, Wright N, Sullivan C, Olfson E, Abdallah S, Liu W, Hoffman E, Gupta A, Singer H. Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene. PLOS ONE 2023, 18: e0291978. PMID: 37788244, PMCID: PMC10547198, DOI: 10.1371/journal.pone.0291978.
- Dvornek N, Sullivan C, Duncan J, Gupta A. Copy Number Variation Informs fMRI-Based Prediction of Autism Spectrum Disorder. Lecture Notes In Computer Science 2023, 14312: 133-142. PMID: 38371906, PMCID: PMC10868600, DOI: 10.1007/978-3-031-44858-4_13.
- Enriquez KD, Gupta AR, Hoffman EJ. Signaling Pathways and Sex Differential Processes in Autism Spectrum Disorder. Frontiers In Psychiatry 2021, 12: 716673. PMID: 34690830, PMCID: PMC8531220, DOI: 10.3389/fpsyt.2021.716673.
- Hoang P, Kowalczewski A, Sun S, Winston TS, Archilla AM, Lemus SM, Ercan-Sencicek AG, Gupta AR, Liu W, Kontaridis MI, Amack JD, Ma Z. Engineering spatial-organized cardiac organoids for developmental toxicity testing. Stem Cell Reports 2021, 16: 1228-1244. PMID: 33891865, PMCID: PMC8185451, DOI: 10.1016/j.stemcr.2021.03.013.
- Jack A, Sullivan CAW, Aylward E, Bookheimer SY, Dapretto M, Gaab N, Van Horn JD, Eilbott J, Jacokes Z, Torgerson CM, Bernier RA, Geschwind DH, McPartland JC, Nelson CA, Webb SJ, Pelphrey KA, Gupta AR, Bernier R, McPartland J, Ventola P, Kresse A, Neuhaus E, Corrigan S, Wolf J, McDonald N, Ankenman K, Webb S, Jeste S, Nelson C, Naples A, Libsack E, Pelphrey K, Aylward E, Bookheimer S, Gaab N, Dapretto M, Van Horn J, Jack A, Guilford D, Torgerson C, Welker O, Geschwind D, Gupta A, Sullivan C, Lowe J, Jacokes Z, MacDonnell E, Tsapelas H, Depedro-Mercier D, Keifer C, Ventola P. A neurogenetic analysis of female autism. Brain 2021, 144: 1911-1926. PMID: 33860292, PMCID: PMC8320285, DOI: 10.1093/brain/awab064.
- Gupta A, DiLullo N. Neuroligins. 2021, 3135-3137. DOI: 10.1007/978-3-319-91280-6_1334.
- Song Y, Gupta A. Candidate Genes in Autism. 2021, 803-807. DOI: 10.1007/978-3-319-91280-6_1317.
- Gupta A. Chromosome 15q11–q13. 2021, 953-954. DOI: 10.1007/978-3-319-91280-6_419.
- DiLullo N, Gupta A. Angelman/Prader-Willi Syndromes. 2021, 202-205. DOI: 10.1007/978-3-319-91280-6_1316.
- Gupta A. Epicanthic Fold. 2021, 1809-1810. DOI: 10.1007/978-3-319-91280-6_1325.
- Assali A, Cho JY, Tsvetkov E, Gupta AR, Cowan CW. Sex-dependent role for EPHB2 in brain development and autism-associated behavior. Neuropsychopharmacology 2021, 46: 2021-2029. PMID: 33649502, PMCID: PMC8429442, DOI: 10.1038/s41386-021-00986-8.
- Voliovitch Y, Leventhal JM, Fenick AM, Gupta AR, Feinberg E, Hickey EJ, Shabanova V, Weitzman C. Parenting Stress and its Associated Components Prior to an Autism Spectrum Disorder (ASD) Diagnostic Evaluation. Journal Of Autism And Developmental Disorders 2021, 51: 3432-3442. PMID: 33387245, DOI: 10.1007/s10803-020-04804-w.
- Herrero MJ, Velmeshev D, Hernandez-Pineda D, Sethi S, Sorrells S, Banerjee P, Sullivan C, Gupta AR, Kriegstein AR, Corbin JG. Identification of amygdala-expressed genes associated with autism spectrum disorder. Molecular Autism 2020, 11: 39. PMID: 32460837, PMCID: PMC7251751, DOI: 10.1186/s13229-020-00346-1.
- Cappi C, Oliphant ME, Péter Z, Zai G, do Rosário M, Sullivan CAW, Gupta AR, Hoffman EJ, Virdee M, Olfson E, Abdallah SB, Willsey AJ, Shavitt RG, Miguel EC, Kennedy JL, Richter MA, Fernandez TV. De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette’s Disorder and Autism. Biological Psychiatry 2019, 87: 1035-1044. PMID: 31771860, PMCID: PMC7160031, DOI: 10.1016/j.biopsych.2019.09.029.
- Goodrich M, Armour AC, Panchapakesan K, You X, Devaney J, Knoblach S, Sullivan CAW, Herrero MJ, Gupta AR, Vaidya CJ, Kenworthy L, Corbin JG. PAC1R Genotype to Phenotype Correlations in Autism Spectrum Disorder. Autism Research 2018, 12: 200-211. PMID: 30556326, PMCID: PMC6665682, DOI: 10.1002/aur.2051.
- 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. Molecular Autism 2017, 8: 19. PMID: 28392909, PMCID: PMC5379515, DOI: 10.1186/s13229-017-0133-0.
- 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 Genetics 2015, 11: e1004852. PMID: 25621974, PMCID: PMC4306541, DOI: 10.1371/journal.pgen.1004852.
- Griesi-Oliveira K, Acab A, Gupta AR, Sunaga DY, Chailangkarn T, Nicol X, Nunez Y, Walker MF, Murdoch JD, Sanders SJ, Fernandez TV, Ji W, Lifton RP, Vadasz E, Dietrich A, Pradhan D, Song H, Ming GL, Gu X, Haddad G, Marchetto MC, Spitzer N, Passos-Bueno MR, State MW, Muotri AR. Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons. Molecular Psychiatry 2014, 20: 1350-1365. PMID: 25385366, PMCID: PMC4427554, DOI: 10.1038/mp.2014.141.
- Dong S, Walker MF, Carriero NJ, DiCola M, Willsey AJ, Ye AY, Waqar Z, Gonzalez LE, Overton JD, Frahm S, Keaney JF, Teran NA, Dea J, Mandell JD, 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 Reports 2014, 9: 16-23. PMID: 25284784, PMCID: PMC4194132, DOI: 10.1016/j.celrep.2014.08.068.
- 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. European Journal Of Human Genetics 2014, 23: 165-172. PMID: 24781755, PMCID: PMC4297910, DOI: 10.1038/ejhg.2014.82.
- 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, Šestan N, State MW. Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. Molecular Autism 2014, 5: 31. PMID: 24860643, PMCID: PMC4032628, DOI: 10.1186/2040-2392-5-31.
- Volkmar F, Rowberry J, De Vinck‐Baroody O, Gupta A, Leung J, Meyers J, Vaswani N, Wiesner L. Medical Care in Autism and Related Conditions. 2014 DOI: 10.1002/9781118911389.hautc22.
- 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, 155: 997-1007. PMID: 24267886, PMCID: PMC3995413, DOI: 10.1016/j.cell.2013.10.020.
- Gupta A. Chromosome 15q11–q13. 2013, 639-640. DOI: 10.1007/978-1-4419-1698-3_419.
- Song Y, Gupta A. Candidate Genes in Autism. 2013, 516-519. DOI: 10.1007/978-1-4419-1698-3_1317.
- Gupta A, DiLullo N. Neuroligins. 2013, 2015-2017. DOI: 10.1007/978-1-4419-1698-3_1334.
- Gupta A. Epicanthic Fold. 2013, 1131-1131. DOI: 10.1007/978-1-4419-1698-3_1325.
- DiLullo N, Gupta A. Angelman/Prader-Willi Syndromes. 2013, 157-160. DOI: 10.1007/978-1-4419-1698-3_1316.
- 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. Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy. Science 2012, 338: 394-397. PMID: 22956686, PMCID: PMC3704165, DOI: 10.1126/science.1224631.
- 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, Šestan 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, 485: 237-241. PMID: 22495306, PMCID: PMC3667984, DOI: 10.1038/nature10945.
- 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, 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, 70: 863-885. PMID: 21658581, PMCID: PMC3939065, DOI: 10.1016/j.neuron.2011.05.002.
- Ghosh AG, Abbott AA, Gupta AK, King K, Singer BJ, Morgan CE, Cho T, Stillman A, Pauls RA, Loring DL, Louvi JA, Bilguvar GA, O'Roak HS, Mason DL, Tischfield PJ, Heiman TM, Gilbert E, Hoekstra K, Yasuno T, Fernandez S, Sanders A, Mane JH, Colangelo S, Biederer CM, Lifton T, Gunel RP, State M, Ercan-Sencicek MW. L-Histidine Decarboxylase and Tourette's Syndrome. The New England Journal Of Medicine 2010, 362: 1901-1908. PMID: 20445167, PMCID: PMC2894694, DOI: 10.1056/nejmoa0907006.
- Medical issues associated with ASDVolkmar 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.
- 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. American Journal Of Human Genetics 2008, 82: 165-173. PMID: 18179895, PMCID: PMC2253974, DOI: 10.1016/j.ajhg.2007.09.017.
- Gupta AR, State MW. Recent Advances in the Genetics of Autism. Biological Psychiatry 2006, 61: 429-437. PMID: 16996486, DOI: 10.1016/j.biopsych.2006.06.020.
- Gupta AR, State MW. Autismo: genética. Brazilian Journal Of Psychiatry 2006, 28: s29-s38. PMID: 16791389, DOI: 10.1590/s1516-44462006000500005.
- Gupta AR, Dejneka NS, D'Amato RJ, Yang Z, Syed N, Maguire AM, Bennett J. Strain-dependent anterior segment neovascularization following intravitreal gene transfer of basic fibroblast growth factor (bFGF). The Journal Of Gene Medicine 2001, 3: 252-9. PMID: 11437330, DOI: 10.1002/1521-2254(200105/06)3:3<252::AID-JGM185>3.0.CO;2-S.
- Gupta AR, Dejneka NS, Maguire AM, Bennett J. Generation of transgenic mice for studies of ocular development and disease. Methods In Molecular Medicine 2001, 47: 191-214. PMID: 21394586, DOI: 10.1385/1-59259-085-3:191.
- Bennett J, Zeng Y, Gupta AR, Maguire AM. Application of adenoviral vectors. Analysis of eye development. Methods In Molecular Biology (Clifton, N.J.) 2000, 135: 525-35. PMID: 10791347, DOI: 10.1385/1-59259-685-1:525.
- Nesbit M, Nesbit HK, Bennett J, Andl T, Hsu MY, Dejesus E, McBrian M, Gupta AR, Eck SL, Herlyn M. Basic fibroblast growth factor induces a transformed phenotype in normal human melanocytes. Oncogene 1999, 18: 6469-76. PMID: 10597249, DOI: 10.1038/sj.onc.1203066.
- Bennett J, Maguire AM, Cideciyan AV, Schnell M, Glover E, Anand V, Aleman TS, Chirmule N, Gupta AR, Huang Y, Gao GP, Nyberg WC, Tazelaar J, Hughes J, Wilson JM, Jacobson SG. Stable transgene expression in rod photoreceptors after recombinant adeno-associated virus-mediated gene transfer to monkey retina. Proceedings Of The National Academy Of Sciences Of The United States Of America 1999, 96: 9920-5. PMID: 10449795, PMCID: PMC22311, DOI: 10.1073/pnas.96.17.9920.
- Zeng Y, Rosborough RC, Li Y, Gupta AR, Bennett J. Temporal and spatial regulation of gene expression mediated by the promoter for the human tissue inhibitor of metalloproteinases-3 (TIMP-3)-encoding gene. Developmental Dynamics : An Official Publication Of The American Association Of Anatomists 1998, 211: 228-37. PMID: 9520110, DOI: 10.1002/(SICI)1097-0177(199803)211:3<228::AID-AJA4>3.0.CO;2-J.
- 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.
- Yale Child Study Center350 George StreetNew Haven, CT 06511
- Yale Child Study Center350 George StreetNew Haven, CT 06511