Abha Gupta, MD, PhD

• Adife Gulhan Ercan-Sencicek
• Alexander Westphal
• Angeliki Louvi
• Catherine Sullivan
• Ellen J. Hoffman
• Emily Olfson
• Euripedes C. Miguel
• Katarzyna Chawarska
• Kaya Bilguvar
• Manmeet Virdee
• Marina Picciotto
• Matthew State
• Murat Gunel
• Sarah Barbara Abdallah
• Sofia Fertuzinhos
• Thomas Fernandez
• Veronika Shabanova
• Weizhen Ji
• Wenzhong Liu

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

• Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk geneFernandez 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.
• Signaling Pathways and Sex Differential Processes in Autism Spectrum DisorderEnriquez 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.
• Engineering spatial-organized cardiac organoids for developmental toxicity testingHoang 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.
• A neurogenetic analysis of female autismJack 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: awab064-. PMID: 33860292, PMCID: PMC8320285, DOI: 10.1093/brain/awab064.
• Epicanthic FoldGupta A. Epicanthic Fold. 2021, 1809-1810. DOI: 10.1007/978-3-319-91280-6_1325.
• Angelman/Prader-Willi SyndromesDiLullo N, Gupta A. Angelman/Prader-Willi Syndromes. 2021, 202-205. DOI: 10.1007/978-3-319-91280-6_1316.
• Chromosome 15q11–q13Gupta A. Chromosome 15q11–q13. 2021, 953-954. DOI: 10.1007/978-3-319-91280-6_419.
• Candidate Genes in AutismSong Y, Gupta A. Candidate Genes in Autism. 2021, 803-807. DOI: 10.1007/978-3-319-91280-6_1317.
• NeuroliginsGupta A, DiLullo N. Neuroligins. 2021, 3135-3137. DOI: 10.1007/978-3-319-91280-6_1334.
• Sex-dependent role for EPHB2 in brain development and autism-associated behaviorAssali 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.
• Parenting Stress and its Associated Components Prior to an Autism Spectrum Disorder (ASD) Diagnostic EvaluationVoliovitch 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.
• Identification of amygdala-expressed genes associated with autism spectrum disorderHerrero 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.
• De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette’s Disorder and AutismCappi C, Oliphant ME, Péter Z, Zai G, Conceição 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.
• PAC1R Genotype to Phenotype Correlations in Autism Spectrum DisorderGoodrich 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.
• Neurogenetic analysis of childhood disintegrative disorderGupta 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.
• 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 ContactinsMurdoch 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.
• Modeling non-syndromic autism and the impact of TRPC6 disruption in human neuronsGriesi-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.
• De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum DisorderDong 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.
• Homozygous loss of DIAPH1 is a novel cause of microcephaly in humansErcan-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.
• Rare deleterious mutations of the gene EFR3A in autism spectrum disordersGupta 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.
• Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of AutismWillsey 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.
• Angelman/Prader-Willi SyndromesDiLullo N, Gupta A. Angelman/Prader-Willi Syndromes. 2013, 157-160. DOI: 10.1007/978-1-4419-1698-3_1316.
• Epicanthic FoldGupta A. Epicanthic Fold. 2013, 1131-1131. DOI: 10.1007/978-1-4419-1698-3_1325.
• NeuroliginsGupta A, DiLullo N. Neuroligins. 2013, 2015-2017. DOI: 10.1007/978-1-4419-1698-3_1334.
• Candidate Genes in AutismSong Y, Gupta A. Candidate Genes in Autism. 2013, 516-519. DOI: 10.1007/978-1-4419-1698-3_1317.
• Chromosome 15q11–q13Gupta A. Chromosome 15q11–q13. 2013, 639-640. DOI: 10.1007/978-1-4419-1698-3_419.
• Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with EpilepsyNovarino 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.
• De novo mutations revealed by whole-exome sequencing are strongly associated with autismSanders 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.
• Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with AutismSanders 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.
• L-Histidine Decarboxylase and Tourette's SyndromeErcan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, Morgan TM, Loring E, Yasuno K, Fernandez T, Sanders S, Louvi A, Cho JH, Mane S, Colangelo CM, Biederer T, Lifton RP, Gunel M, State MW. L-Histidine Decarboxylase and Tourette's Syndrome. New England Journal Of Medicine 2010, 362: 1901-1908. PMID: 20445167, PMCID: PMC2894694, DOI: 10.1056/nejmoa0907006.
• Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum DisordersBakkaloglu 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.
• 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.
• Recent Advances in the Genetics of AutismGupta 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.
• Autismo: genéticaGupta AR, State MW. Autismo: genética. Brazilian Journal Of Psychiatry 2006, 28: s29-s38. PMID: 16791389, DOI: 10.1590/s1516-44462006000500005.
• Strain-dependent anterior segment neovascularization following intravitreal gene transfer of basic fibroblast growth factor (bFGF).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.
• Generation of transgenic mice for studies of ocular development and disease.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.
• Application of adenoviral vectors. Analysis of eye development.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.
• Basic fibroblast growth factor induces a transformed phenotype in normal human melanocytes.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.
• Stable transgene expression in rod photoreceptors after recombinant adeno-associated virus-mediated gene transfer to monkey retina.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.
• Temporal and spatial regulation of gene expression mediated by the promoter for the human tissue inhibitor of metalloproteinases-3 (TIMP-3)-encoding gene.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.