Catherine Sullivan
Research Assistant Pediatrics
Research & Publications
Biography
News
Extensive Research Description
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
Coauthors
Research Image
Differential expression levels of various gene sets.
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
Selected Publications
- 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.
- Linear discriminant analysis of phenotypic data for classifying autism spectrum disorder by diagnosis and sexJacokes 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.
- 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.
- Language and Aggressive Behaviors in Male and Female Youth with Autism Spectrum DisorderNeuhaus E, Kang VY, Kresse A, Corrigan S, Aylward E, Bernier R, Bookheimer S, Dapretto M, Jack A, Jeste S, McPartland JC, Van Horn JD, Pelphrey K, Webb SJ. Language and Aggressive Behaviors in Male and Female Youth with Autism Spectrum Disorder. Journal Of Autism And Developmental Disorders 2021, 52: 454-462. PMID: 33682042, PMCID: PMC9407024, DOI: 10.1007/s10803-020-04773-0.
- Do Biological Sex and Early Developmental Milestones Predict the Age of First Concerns and Eventual Diagnosis in Autism Spectrum Disorder?Harrop C, Libsack E, Bernier R, Dapretto M, Jack A, McPartland JC, Van Horn JD, Webb SJ, Pelphrey K, Consortium T. Do Biological Sex and Early Developmental Milestones Predict the Age of First Concerns and Eventual Diagnosis in Autism Spectrum Disorder? Autism Research 2020, 14: 156-168. PMID: 33274604, PMCID: PMC8023413, DOI: 10.1002/aur.2446.
- 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.
- Neural responsivity to social rewards in autistic female youthLawrence KE, Hernandez LM, Eilbott J, Jack A, Aylward E, Gaab N, Van Horn JD, Bernier RA, Geschwind DH, McPartland JC, Nelson CA, Webb SJ, Pelphrey KA, Bookheimer SY, Dapretto M. Neural responsivity to social rewards in autistic female youth. Translational Psychiatry 2020, 10: 178. PMID: 32488083, PMCID: PMC7266816, DOI: 10.1038/s41398-020-0824-8.
- 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.
- Beliefs in vaccine as causes of autism among SPARK cohort caregivers.Fombonne E, Goin-Kochel RP, O'Roak BJ, SPARK Consortium.. Beliefs in vaccine as causes of autism among SPARK cohort caregivers. Vaccine 2020, 38:1794-1803.
- 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.
- The scaffolding protein NHERF1 regulates the stability and activity of the tyrosine kinase HER2Jeong J, VanHouten JN, Kim W, Dann P, Sullivan C, Choi J, Sneddon WB, Friedman PA, Wysolmerski JJ. The scaffolding protein NHERF1 regulates the stability and activity of the tyrosine kinase HER2. Journal Of Biological Chemistry 2017, 292: 6555-6568. PMID: 28235801, PMCID: PMC5399107, DOI: 10.1074/jbc.m116.770883.
- Calcium-Sensing Receptor Promotes Breast Cancer by Stimulating Intracrine Actions of Parathyroid Hormone–Related ProteinKim W, Takyar FM, Swan K, Jeong J, VanHouten J, Sullivan C, Dann P, Yu H, Fiaschi-Taesch N, Chang W, Wysolmerski J. Calcium-Sensing Receptor Promotes Breast Cancer by Stimulating Intracrine Actions of Parathyroid Hormone–Related Protein. Cancer Research 2016, 76: 5348-5360. PMID: 27450451, PMCID: PMC5026591, DOI: 10.1158/0008-5472.can-15-2614.
- PMCA2 regulates HER2 protein kinase localization and signaling and promotes HER2-mediated breast cancerJeong J, VanHouten JN, Dann P, Kim W, Sullivan C, Yu H, Liotta L, Espina V, Stern DF, Friedman PA, Wysolmerski JJ. PMCA2 regulates HER2 protein kinase localization and signaling and promotes HER2-mediated breast cancer. Proceedings Of The National Academy Of Sciences Of The United States Of America 2016, 113: e282-e290. PMID: 26729871, PMCID: PMC4725473, DOI: 10.1073/pnas.1516138113.
- Phase 1b study of the mammalian target of rapamycin inhibitor sirolimus in combination with nanoparticle albumin–bound paclitaxel in patients with advanced solid tumorsAbu-Khalaf MM, Baumgart MA, Gettinger SN, Doddamane I, Tuck DP, Hou S, Chen N, Sullivan C, Lezon-Geyda K, Zelterman D, Hatzis C, Deshpande H, Digiovanna MP, Azodi M, Schwartz PE, Harris LN. Phase 1b study of the mammalian target of rapamycin inhibitor sirolimus in combination with nanoparticle albumin–bound paclitaxel in patients with advanced solid tumors. Cancer 2015, 121: 1817-1826. PMID: 25649370, DOI: 10.1002/cncr.29254.
- 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.
- The contribution of de novo coding mutations to autism spectrum disorderIossifov I, O’Roak B, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, Gonzalez LE, Mandell JD, Mane SM, Murtha MT, Sullivan CA, Walker MF, Waqar Z, Wei L, Willsey AJ, Yamrom B, Lee YH, Grabowska E, Dalkic E, Wang Z, Marks S, Andrews P, Leotta A, Kendall J, Hakker I, Rosenbaum J, Ma B, Rodgers L, Troge J, Narzisi G, Yoon S, Schatz MC, Ye K, McCombie WR, Shendure J, Eichler EE, State MW, Wigler M. The contribution of de novo coding mutations to autism spectrum disorder. Nature 2014, 515: 216-221. PMID: 25363768, PMCID: PMC4313871, DOI: 10.1038/nature13908.
- 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.
- Automated Quantitative Analysis of Tissue Microarray of 443 Patients with Colorectal Adenocarcinoma: Low Expression of Bcl-2 Predicts Poor SurvivalNicholson AD, Guo X, Sullivan CA, Cha CH. Automated Quantitative Analysis of Tissue Microarray of 443 Patients with Colorectal Adenocarcinoma: Low Expression of Bcl-2 Predicts Poor Survival. Journal Of The American College Of Surgeons 2014, 219: 977-987. PMID: 25127509, DOI: 10.1016/j.jamcollsurg.2014.07.007.
- A germline mutation in the BRCA13’UTR predicts Stage IV breast cancerDorairaj JJ, Salzman DW, Wall D, Rounds T, Preskill C, Sullivan C, Lindner R, Curran C, Lezon-Geyda K, McVeigh T, Harris L, Newell J, Kerin MJ, Wood M, Miller N, Weidhaas JB. A germline mutation in the BRCA13’UTR predicts Stage IV breast cancer. BMC Cancer 2014, 14: 421. PMID: 24915755, PMCID: PMC4059881, DOI: 10.1186/1471-2407-14-421.
- Molecular Phenotypes in Triple Negative Breast Cancer from African American Patients Suggest Targets for TherapyLindner R, Sullivan C, Offor O, Lezon-Geyda K, Halligan K, Fischbach N, Shah M, Bossuyt V, Schulz V, Tuck DP, Harris LN. Molecular Phenotypes in Triple Negative Breast Cancer from African American Patients Suggest Targets for Therapy. PLOS ONE 2013, 8: e71915. PMID: 24260093, PMCID: PMC3832509, DOI: 10.1371/journal.pone.0071915.
- Hypoxia-induced protein CAIX is associated with somatic loss of BRCA1 protein and pathway activity in triple negative breast cancerNeumeister VM, Sullivan CA, Lindner R, Lezon-Geyda K, Li J, Zavada J, Martel M, Glazer PM, Tuck DP, Rimm DL, Harris L. Hypoxia-induced protein CAIX is associated with somatic loss of BRCA1 protein and pathway activity in triple negative breast cancer. Breast Cancer Research And Treatment 2012, 136: 67-75. PMID: 22976806, DOI: 10.1007/s10549-012-2232-0.
- Abstract P6-04-04: Hypoxia Is Associated with Somatic Loss of BRCA1 Protein and Pathway Activity in Triple Negative Breast CancerNeumeister V, Li J, Lindner R, Sullivan C, Glazer P, Tuck D, Rimm D, Harris L. Abstract P6-04-04: Hypoxia Is Associated with Somatic Loss of BRCA1 Protein and Pathway Activity in Triple Negative Breast Cancer. Cancer Research 2010, 70: p6-04-04-p6-04-04. DOI: 10.1158/0008-5472.sabcs10-p6-04-04.
- PMCA2 regulates apoptosis during mammary gland involution and predicts outcome in breast cancerVanHouten J, Sullivan C, Bazinet C, Ryoo T, Camp R, Rimm DL, Chung G, Wysolmerski J. PMCA2 regulates apoptosis during mammary gland involution and predicts outcome in breast cancer. Proceedings Of The National Academy Of Sciences Of The United States Of America 2010, 107: 11405-11410. PMID: 20534448, PMCID: PMC2895115, DOI: 10.1073/pnas.0911186107.
- Abstract C21: Hypoxia-induced down-regulation of BRCA1 nuclear protein in human breast cancer tissuesLi J, Sullivan C, Numeister V, Rimm D, Glazer P, Harris L. Abstract C21: Hypoxia-induced down-regulation of BRCA1 nuclear protein in human breast cancer tissues. Molecular Cancer Therapeutics 2009, 8: c21-c21. DOI: 10.1158/1535-7163.targ-09-c21.
- Where Do We Place PankoMab in the Reagents Used to Study the MUC1 Superfamily?Li J, Sullivan C, Harris L. Where Do We Place PankoMab in the Reagents Used to Study the MUC1 Superfamily? Oncology Research And Treatment 2009, 32: 235-237. PMID: 19420968, DOI: 10.1159/000209989.
- Tissue Microarray Analysis of 560 Patients with Colorectal Adenocarcinoma: High Expression of HuR Predicts Poor SurvivalYoo PS, Sullivan CA, Kiang S, Gao W, Uchio EM, Chung GG, Cha CH. Tissue Microarray Analysis of 560 Patients with Colorectal Adenocarcinoma: High Expression of HuR Predicts Poor Survival. Annals Of Surgical Oncology 2009, 16: 200. PMID: 19009247, DOI: 10.1245/s10434-008-0209-3.
- Microvessel area using automated image analysis is reproducible and is associated with prognosis in breast cancerSullivan CA, Ghosh S, Ocal IT, Camp RL, Rimm DL, Chung GG. Microvessel area using automated image analysis is reproducible and is associated with prognosis in breast cancer. Human Pathology 2008, 40: 156-165. PMID: 18799189, DOI: 10.1016/j.humpath.2008.07.005.
- High levels of vascular endothelial growth factor and its receptors (VEGFR-1, VEGFR-2, neuropilin-1) are associated with worse outcome in breast cancerGhosh S, Sullivan CA, Zerkowski MP, Molinaro AM, Rimm DL, Camp RL, Chung GG. High levels of vascular endothelial growth factor and its receptors (VEGFR-1, VEGFR-2, neuropilin-1) are associated with worse outcome in breast cancer. Human Pathology 2008, 39: 1835-1843. PMID: 18715621, PMCID: PMC2632946, DOI: 10.1016/j.humpath.2008.06.004.
- Biomarker Validation: In Situ Analysis of Protein Expression Using Semiquantitative Immunohistochemistry-Based TechniquesSullivan CA, Chung GG. Biomarker Validation: In Situ Analysis of Protein Expression Using Semiquantitative Immunohistochemistry-Based Techniques. Clinical Colorectal Cancer 2008, 7: 172-177. PMID: 18621634, DOI: 10.3816/ccc.2008.n.022.