Colorado PROFILES, The Colorado Clinical and Translational Sciences Institute (CCTSI)
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Caroline Marie Dias

TitleAssistant Professor
InstitutionUniversity of Colorado Denver - Anschutz Medical Campus
DepartmentSOM-PEDS

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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Doss RM, Lopez-Ignacio S, Dischler A, Hiatt L, Dashnow H, Breuss MW, Dias CM. Mosaicism in Short Tandem Repeat Disorders: A Clinical Perspective. Genes (Basel). 2025 Feb 13; 16(2). PMID: 40004546.
      View in: PubMed
    2. Hansen N, Dischler A, Dias C. Beyond the Synapse: FMR1 and FMRP Molecular Mechanisms in the Nucleus. Int J Mol Sci. 2024 Dec 30; 26(1). PMID: 39796070.
      View in: PubMed
    3. Dias C. Characterizing the female brain in fragile X syndrome. Dev Med Child Neurol. 2025 Apr; 67(4):425-426. PMID: 39279299.
      View in: PubMed
    4. Dias C, Mo A, Cai C, Sun L, Cabral K, Brownstein CA, Rockowitz S, Walsh CA. Cell-type-specific effects of autism-associated 15q duplication syndrome in the human brain. Am J Hum Genet. 2024 Aug 08; 111(8):1544-1558. PMID: 39079538.
      View in: PubMed
    5. Dias C, Mo A, Cai C, Sun L, Cabral K, Brownstein CA, Rockowitz S, Walsh CA. Cell-type-specific effects of autism-associated chromosome 15q11.2-13.1 duplications in human brain. bioRxiv. 2024 May 22. PMID: 38826276.
      View in: PubMed
    6. Dias CM, Issac B, Sun L, Lukowicz A, Talukdar M, Akula SK, Miller MB, Walsh K, Rockowitz S, Walsh CA. Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome. Proc Natl Acad Sci U S A. 2023 06 06; 120(23):e2300052120. PMID: 37252957.
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    7. Bae T, Fasching L, Wang Y, Shin JH, Suvakov M, Jang Y, Norton S, Dias C, Mariani J, Jourdon A, Wu F, Panda A, Pattni R, Chahine Y, Yeh R, Roberts RC, Huttner A, Kleinman JE, Hyde TM, Straub RE, Walsh CA, Urban AE, Leckman JF, Weinberger DR, Vaccarino FM, Abyzov A. Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability. Science. 2022 07 29; 377(6605):511-517. PMID: 35901164.
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    8. Borges-Monroy R, Chu C, Dias C, Choi J, Lee S, Gao Y, Shin T, Park PJ, Walsh CA, Lee EA. Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder. Mob DNA. 2021 Nov 27; 12(1):28. PMID: 34838103.
      View in: PubMed
    9. Dias C, Pfundt R, Kleefstra T, Shuurs-Hoeijmakers J, Boon EMJ, van Hagen JM, Zwijnenburg P, Weiss MM, Keren B, Mignot C, Isapof A, Weiss K, Hershkovitz T, Iascone M, Maitz S, Feichtinger RG, Kotzot D, Mayr JA, Ben-Omran T, Mahmoud L, Pais LS, Walsh CA, Shashi V, Sullivan JA, Stong N, Lecoquierre F, Guerrot AM, Charollais A, Rodan LH. De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. Am J Med Genet A. 2021 08; 185(8):2384-2390. PMID: 34003604.
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    10. Sherman MA, Rodin RE, Genovese G, Dias C, Barton AR, Mukamel RE, Berger B, Park PJ, Walsh CA, Loh PR. Large mosaic copy number variations confer autism risk. Nat Neurosci. 2021 02; 24(2):197-203. PMID: 33432194.
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    11. Dias CM, Walsh CA. Recent Advances in Understanding the Genetic Architecture of Autism. Annu Rev Genomics Hum Genet. 2020 08 31; 21:289-304. PMID: 32396753.
      View in: PubMed
    12. Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, Peng M, Collins R, Grove J, Klei L, Stevens C, Reichert J, Mulhern MS, Artomov M, Gerges S, Sheppard B, Xu X, Bhaduri A, Norman U, Brand H, Schwartz G, Nguyen R, Guerrero EE, Dias C, Betancur C, Cook EH, Gallagher L, Gill M, Sutcliffe JS, Thurm A, Zwick ME, B?rglum AD, State MW, Cicek AE, Talkowski ME, Cutler DJ, Devlin B, Sanders SJ, Roeder K, Daly MJ, Buxbaum JD. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell. 2020 02 06; 180(3):568-584.e23. PMID: 31981491.
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    13. Dias CM, Punetha J, Zheng C, Mazaheri N, Rad A, Efthymiou S, Petersen A, Dehghani M, Pehlivan D, Partlow JN, Posey JE, Salpietro V, Gezdirici A, Malamiri RA, Al Menabawy NM, Selim LA, Vahidi Mehrjardi MY, Banu S, Polla DL, Yang E, Rezazadeh Varaghchi J, Mitani T, van Beusekom E, Najafi M, Sedaghat A, Keller-Ramey J, Durham L, Coban-Akdemir Z, Karaca E, Orlova V, Schaeken LLM, Sherafat A, Jhangiani SN, Stanley V, Shariati G, Galehdari H, Gleeson JG, Walsh CA, Lupski JR, Seiradake E, Houlden H, van Bokhoven H, Maroofian R. Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. Am J Hum Genet. 2019 11 07; 105(5):1048-1056. PMID: 31668703.
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