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Kristiina Tammimies

Forskare

Utbildning

Postdoktorala studier, 2012-2014, The Centre of Applied Genomics, The Hospital for Sick Children, Toronto

Doktor i Medicinsk Vetenskap, 2011 Karolinska Institutet

Master i Biologi, inriktning genetik, 2007, Uleåborgs Universitet

Forskningsbeskrivning

Mitt arbete syftar till att förstå hur genetiska faktorer bidrar till uppkomsten av neuropsykiatriska funktionsnedsättningar (NPF) och hur dessa faktorer översätter till biologiska nätverk som påverkar hjärnans utveckling. I specifika projekt, studerar vi också hur genetiska faktorer kan används som prediktorer för behandlingsutfall hos individer med NPF. 

KIND Genomics hemsida: http://ki.se/kind/kind-genomics-genetiska-faktorer-och-npf

Finansiering

Vetenskaprådet

Stiftelsen för Strategisk forskning

Jeanssons Stiftelser

Hjärnfonden

Akademiska priser och utmärkelser

2016 L'Oréal-UNESCO For Women in Science-priset i Sverige med stöd av Sveriges unga akademi

2015 Ingvar Carlsson Award 6

2014 University of Toronto McLaughlin Centre Training Award

2013 ASHG/Charles J. Epstein Trainee Award for Excellence in Human Genetics Research – Semifinalist

Publikationer

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay
Uddin M, Pellecchia G, Thiruvahindrapuram B, D'abate L, Merico D, Chan A, et al
Scientific reports 2016;6():28663-

Quo Vadis clinical genomics of ASD?
Tammimies K, Falck-ytter T, Bolte S
AUTISM 2016;20(3):259-61

De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: a case report and a brief literature review
Liu Y, Zhao D, Dong R, Yang X, Zhang Y, Tammimies K, et al
American journal of medical genetics. Part A 2015;167(6):1381-5

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder
Tammimies K, Marshall Cr, Walker S, Kaur G, Thiruvahindrapuram B, Lionel Ac, et al
JAMA 2015;314(9):895-903

Rare de novo deletion of metabotropic glutamate receptor 7 (GRM7) gene in a patient with autism spectrum disorder
Liu Y, Zhang Y, Zhao D, Dong R, Yang X, Tammimies K, et al
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2015;168B(4):258-64

Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes
Woodbury-smith M, Paterson Ad, Thiruvahindrapduram B, Lionel Ac, Marshall Cr, Merico D, et al
Human genetics 2015;134(2):191-201

Whole-genome sequencing of quartet families with autism spectrum disorder
Yuen Rk, Thiruvahindrapuram B, Merico D, Walker S, Tammimies K, Hoang N, et al
Nature medicine 2015;21(2):185-91

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder
Uddin M, Tammimies K, Pellecchia G, Alipanahi B, Hu P, Wang Z, et al
Nature genetics 2014;46(7):742-7

Copy number variation in Han Chinese individuals with autism spectrum disorder
Gazzellone Mj, Zhou X, Lionel Ac, Uddin M, Thiruvahindrapuram B, Liang S, et al
Journal of neurodevelopmental disorders 2014;6(1):34-

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes
Lionel Ac, Tammimies K, Vaags Ak, Rosenfeld Ja, Ahn Jw, Merico D, et al
HUMAN MOLECULAR GENETICS 2014;23(10):2752-68

Synaptic, transcriptional and chromatin genes disrupted in autism
De Rubeis S, He X, Goldberg Ap, Poultney Cs, Samocha K, Cicek Ae, et al
Nature 2014;515(7526):209-15

The Roots of Autism and ADHD Twin Study in Sweden (RATSS)
Bölte S, Willfors C, Berggren S, Norberg J, Poltrago L, Mevel K, et al
Twin research and human genetics : the official journal of the International Society for Twin Studies 2014;17(3):164-76

Molecular networks of DYX1C1 gene show connection to neuronal migration genes and cytoskeletal proteins
Tammimies K, Vitezic M, Matsson H, Le Guyader S, Bürglin Tr, Ohman T, et al
Biological psychiatry 2013;73(6):583-90

The rs3743205 SNP Is Important for the Regulation of the Dyslexia Candidate Gene DYX1C1 by Estrogen Receptor beta and DNA Methylation
Tammimies K, Tapia-paez I, Ruegg J, Rosin G, Kere J, Gustafsson Ja, et al
MOLECULAR ENDOCRINOLOGY 2012;26(4):619-29

Increased Expression of the Dyslexia Candidate Gene DCDC2 Affects Length and Signaling of Primary Cilia in Neurons
Massinen S, Hokkanen Me, Matsson H, Tammimies K, Tapia-paez I, Dahlstrom-heuser V, et al
PLOS ONE 2011;6(6):e20580-

SNP Variations in the 7q33 Region Containing DGKI are Associated with Dyslexia in the Finnish and German Populations
Matsson H, Tammimies K, Zucchelli M, Anthoni H, Onkamo P, Nopola-hemmi J, et al
BEHAVIOR GENETICS 2011;41(1):134-40

Functional interaction of DYX1C1 with estrogen receptors suggests involvement of hormonal pathways in dyslexia
Massinen S, Tammimies K, Tapia-paez I, Matsson H, Hokkanen Me, Soderberg O, et al
HUMAN MOLECULAR GENETICS 2009;18(15):2802-12

The complex of TFII-I, PARP1, and SFPQ proteins regulates the DYX1C1 gene implicated in neuronal migration and dyslexia
Tapia-paez I, Tammimies K, Massinen S, Roy Al, Kere J
FASEB JOURNAL 2008;22(8):3001-9

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