Catherine Sullivan
Research Assistant PediatricsDownloadHi-Res Photo
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Research Assistant Pediatrics
Biography
Catherine Sullivan received her Bachelor of Arts in Biology from Western Connecticut State University. She went on to receive her Master's of Science in Cellular and Molecular Biology with a Professional Certificate in Bioinformatics at the University of New Haven. She proceeded to work at Yale for 7 years on breast cancer research in the Yale Oncology department looking at biomarkers that predict survival or treatment success. Catherine then transitioned to the Yale Child Study Center and Yale Pediatrics where she has worked on the genetics of autism since 2012.
Last Updated on April 07, 2025.
Education & Training
- MS
- University of New Haven, Cellular and Molecular Biology (2005)
- BA
- Western Connecticut State University, Biology (2003)
Research
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Overview
We are interested in studying the genetics of autism, regression and other childhood neurological disorders. Our primary focus is on Childhood Disintegrative Disorder (CDD), a rare form or autism in which a child is typically developing until at least age 3 and then experiences a major regression in which they lose skills such as social, language, play and toiletry. After regression, these children are diagnosis on the spectrum, and most with intellectual disorder. As regression is found in roughly 30% of children on the spectrum, we are interested in studying the potential genetic causes of regression as they may shed light on the biological pathways involved in CDD. You can find out more about the Yale CDD study here: https://campuspress.yale.edu/yalecddstudy
ORCID
0000-0003-2515-6901- View Lab Website
Gupta lab
Research at a Glance
Yale Co-Authors
Frequent collaborators of Catherine Sullivan's published research.
Publications Timeline
A big-picture view of Catherine Sullivan's research output by year.
Abha Gupta, MD, PhD
David Rimm, MD, PhD
John Wysolmerski, MD
Joshua VanHouten, PhD
Thomas Fernandez, MD
Kimberly Lezon-Geyda
28Publications
3,803Citations
Publications
2025
Number of Alpha Peaks in the Electroencephalogram Is Associated With Clinical Phenotype and Copy Number Variants in Youths With Autism
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.Peer-Reviewed Original ResearchThis study investigates how altered EEG alpha activity in autistic youth correlates with language deficits, autistic traits, and genetic variations, offering insights into ASD neurobiology.
2024
A common genetic variant in the Neurexin family member CNTNAP2 is related to language but not communication skills in youth with Autism Spectrum Disorder
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.Peer-Reviewed Original ResearchCitationsAltmetricConceptsAutism spectrum disorderLanguage skillsCommunication abilitySpectrum disorderStructural language abilityStructural language skillsLow language skillsCommunication skillsMeasures of languageContactin-associated protein-like 2 geneYouth aged 7Verbal communication skillsCELF-4G allele homozygotesLanguage abilityLanguage variablesNon-verbal individualsVerbal youthLanguageNeurexin familyVineland-IICandidate genesGenomic DNAGenetic mechanismsGenetic variants
2023
Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene
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.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsRisk genesDe novo damaging variantsGene expression patternsWhole-exome DNA sequencingMid-fetal developmentAdditional risk genesHigh-confidence risk genesParent-child triosGene OntologyCell signalingExpression patternsCalcium ion transportFunctional convergenceCell cycleDamaging variantsGenesDNA sequencingDe novoASD probandsGenetic etiologyBiological mechanismsSequencingDNANetwork analysisIon transport
2022
Linear discriminant analysis of phenotypic data for classifying autism spectrum disorder by diagnosis and sex
Jacokes Z, Jack A, Sullivan C, Aylward E, Bookheimer S, Dapretto M, Bernier R, Geschwind D, Sukhodolsky D, McPartland J, Webb S, Torgerson C, Eilbott J, Kenworthy L, Pelphrey K, Van Horn J, Consortium T, Ankenman K, Corrigan S, Depedro-Mercier D, Gaab N, Guilford D, Gupta A, Jeste S, Keifer C, Kresse A, Libsack E, Lowe J, MacDonnell E, McDonald N, Naples A, Nelson C, Neuhaus E, Ventola P, Welker O, Wolf J. Linear discriminant analysis of phenotypic data for classifying autism spectrum disorder by diagnosis and sex. Frontiers In Neuroscience 2022, 16: 1040085. PMID: 36466170, PMCID: PMC9709432, DOI: 10.3389/fnins.2022.1040085.Peer-Reviewed Original ResearchCitationsAltmetric
2021
A neurogenetic analysis of female autism
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.Peer-Reviewed Original ResearchCitationsAltmetric
2020
Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort.
Fombonne E, Green Snyder L, Daniels A, Feliciano P, Chung W, SPARK Consortium.. Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort. J Autism Dev Disord 2020, 50:3679-3698.Peer-Reviewed Original ResearchIdentification of amygdala-expressed genes associated with autism spectrum disorder
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.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsASD susceptibility genesSusceptibility genesSingle-nucleus RNA-seq dataCohort of genesIdentification of hundredsRNA-seq dataCell-type specificityAvailable gene expression databasesGene expression analysisGene expression databaseSpecific cell typesEarly developmental stagesHuman tissuesSeq analysisGene setsBeliefs in vaccine as causes of autism among SPARK cohort caregivers
Fombonne E, Goin-Kochel R, O'Roak B, Abbeduto L, Aberbach G, Acampado J, J. A, Albright C, Alessandri M, Amaral D, Amatya A, Anglo C, Annett R, Arriaga I, Ashley R, Astrovskaya I, Baalman K, Baer M, Bahl E, Balasubramanian A, Baraghoshi G, Bardett N, Barnard R, Bashar A, Beaudet A, Beckwith M, Beeson L, Bentley D, Bernier R, Berry-Kravis E, Boland S, Booker S, Bradley C, Brewster S, Brooks E, Brown M, Brueggeman L, Butler M, Butter E, Callahan K, Camba A, Carbone P, Carpenter L, Carpenter S, Carriero N, Cartner L, Casten L, Chatha A, Chin W, Chintalapalli S, Cho D, Chung W, Clark R, Cohen C, Coleman K, Columbi C, Coppola L, Courchesne E, Cubells J, Currin M, Daniels A, David G, DeMarco L, Dennis M, Dent K, Dichter G, Ding Y, Dinh H, Doan R, Doddapaneni H, Eichler E, Eldred S, Eng C, Erickson C, Esler A, Fatemi A, Feliciano P, Fischer G, Fish A, Fisk I, Fombonne E, Foster M, Fox E, Francis S, Friedman S, Ganesan, Garrett M, Gazestani V, Geisheker M, Gerdts J, Geschwind D, Ghaziuddin M, Gibbs R, Goin-Kochel R, Gonzalez N, Goudreau L, Griswold A, Grosvenor L, Gruber A, Gulsrud A, Gunderson J, Gunter C, Gupta A, Gutierrez A, Hale M, Haley M, Hall J, Hamer K, Han B, Hanna N, Hardan A, Harkins C, Harrington G, Harris J, Harris N, Hauf B, Hayes C, Heerwagen K, Hepburn S, Herbert L, Heyman M, Higgins L, Hilscher B, Hofammann E, Hojlo M, Horner S, Hsieh A, Hu J, Huang-Storms L, Hunter S, Hutter H, Istephanous D, Jacob S, Jaramillo N, Jelinek A, Jensen W, Jones M, Jordy M, Jorgenson A, Jou R, Juarez A, Judge J, Jurayj J, Kalmus T, Kanne S, Kaplan H, Kasparson L, Kent M, Kim S, Kitaygorodsky A, Koene H, Koomar T, Korchina V, Krentz A, Schneider H, Lamarche E, Lampert E, Landa R, Lash A, Law J, Lawson N, Layman K, Lechniak H, Lee S, Lee S, Coury D, Martin C, Lesher L, Li H, Li D, Lillie N, Liu X, Lopez M, Lord C, Lowe K, Mallardi M, Manning P, Manoharan J, Marini R, Martin C, Marzano G, Mason A, Mastel S, Matthews E, McCracken J, McKenzie A, Miceli A, Michaelson J, Milliken A, Mohiuddin S, Momin Z, Morrier M, Mostofsky S, Murali S, Muzny D, Myers V, Neely J, Nessner C, Nicholson A, Niederhouser M, O'Brien K, O'Connor E, O'Neil M, O'Roak B, Ochoa-Lubinoff C, Orobio J, Orrick L, Ortiz C, Ousley O, Pacheco L, Palmer S, Pandey J, Paolicelli A, Pawlowski K, Pierce K, Piven J, Plate S, Polanco J, Popp M, Pottschmidt N, Pramparo T, Prock L, Qi H, Qiu S, Rachubinski A, Rajbhandari K, Rana R, Ranganathan V, Raymond L, Remington R, Rice C, Rigby C, Robertson B, Rodriguez N, Rodriguez B, Roeder K, Rosenberg C, Russo-Ponsaran N, Ruzzo E, Sabo A, Sahin M, Salomatov A, Sandhu S, Santangelo S, Sarver D, Scherr J, Schultz R, Schweers K, Shaffer R, Shah S, Shaikh T, Shen Y, Shocklee A, Shulman L, Siegel M, Simon A, Simon L, Singh V, Skinner S, Smith C, Smith K, Snyder L, Soorya L, Soucy A, Stamps D, Steele M, Stephens A, Stock C, Sullivan C, Sutcliffe J, Sutcliffe J, Swanson A, Tafolla M, Takahashi N, Taylor C, Thomas C, Thomas T, Thompson S, Tjernagel J, Turner T, Valicenti-McDermott M, Van Metre B, Van Wade C, Veenstra-Vanderweele J, Verdi M, Vernoia B, Volfovsky N, Wallace J, Walston C, Wang J, Wang T, Warren Z, Wasserburg L, White S, White-Lehman L, Wodka E, Xu S, Yang W, Yinger M, Youngkin S, Yu T, Zang L, Zaydens H, Zhang H, Zhao H, Zhou X, Zick A. Beliefs in vaccine as causes of autism among SPARK cohort caregivers. Vaccine 2020, 38: 1794-1803. PMID: 31924427, PMCID: PMC10515441, DOI: 10.1016/j.vaccine.2019.12.026.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsNational research cohortAutism spectrum disorderSocio-demographic characteristicsChildhood immunization uptakeFamily socio-demographic characteristicsResearch cohortCaregivers of childrenLevel of functionSymptoms of autismChild immunizationCharacteristics of parentsEducational activitiesCaregiversSocio-DemographicDevelopmental regressionChildhood immunizationPsychiatric disordersSpectrum disorderWealthy backgroundsCognitive outcomesAutismEthnic minoritiesEtiologic roleParental social backgroundChildren
2019
De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette’s Disorder and Autism
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.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and Concepts
2018
PAC1R Genotype to Phenotype Correlations in Autism Spectrum Disorder
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.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsResting-state functional connectivity differencesAutism spectrum disorderHuman amygdalaRight middle temporal gyrusFunctional connectivity differencesHigher functional connectivityEarly postnatal stagesNumerous neurodevelopmental disordersMiddle temporal gyrusGC genotypeBrain trajectoriesRisk genotypesSocial deficitsConnectivity differencesAmygdalaTemporal gyrusFunctional connectivityBrain connectivityPostnatal stagesTime pointsNeurodevelopmental disordersMiceCritical time pointsMultimodal approachPossible alterations
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- The difference in median expression levels (non-neocortical minus neocortical brain regions) is shown for genes affected by non-synonymous or synonymous variants in CDD probands, their unaffected siblings, SSC probands with regression, and SSC probands without regression. The number in parentheses indicates the number of subjects or variants, and the dark vertical line in each panel indicates birth. For potential CDD candidate genes, the difference reaches a maximum positive value at period six (mid-fetal stages); significance was confirmed by permutation testing with 100,000 iterations of 40 randomly selected genes (P = 0.0022). CDD childhood disintegrative disorder, SSC Simons Simplex Collection
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