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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

Tammimies lab 

Martin Becker, post doc

Francesca Mastropasqua, post doc

Danyang Li, doktorand KI

Abishek Arora, doktorand KI

Anknuten forskare

Nelli Kalnak, PhD, forskare Lund Universitet 

Bihandlerade till 

Pei-Yin Pan, doktorand KI

Lynnea Myers, doktorand KI

Torkel Carlsson, doktorand KI

Zhou Leilei, doktorand KI

Alumni

Ielyzaveta Rabkina, forskningsassistent

Lea Ballenberger, bachelor student 2017 (University of Tuebingen)

Sofia Stamouli, bioinformatician 2015-2017

Veronika Nicolaou, bachelor student KI 2016

Viveka Moricz, master student 2015 UU

 

Finansiering

Vetenskaprådet

Stiftelsen för Strategisk forskning

Jeanssons Stiftelser

Hjärnfonden

Åke Wiberg Stiftelse 

STINT

Karolinska Institutet's foundations and funds

Stockholm County Council (SLL/ALF)

Akademiska priser och utmärkelser

2017 the Jeanssons Foundation personal award to particularly outstanding young researchers

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

2012-2015 International post doc anslag - Vetenskapsrådet

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

Länkar

Publikationer

2D:4D Ratio in Neurodevelopmental Disorders: A Twin Study
Myers L, Van't Westeinde A, Kuja-halkola R, Tammimies K, Bölte S
Journal of autism and developmental disorders 2018;48(9):3244-3252

Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders
Stamouli S, Anderlid Bm, Willfors C, Thiruvahindrapuram B, Wei J, Berggren S, et al
Twin research and human genetics : the official journal of the International Society for Twin Studies 2018;21(1):1-11

Copy number variation and neuropsychiatric problems in females and males in the general population
Martin J, Tammimies K, Karlsson R, Lu Y, Larsson H, Lichtenstein P, et al
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2018;():-

Dynamical features in fetal and postnatal zinc-copper metabolic cycles predict the emergence of autism spectrum disorder
(for The Emergent Dynamical Systems Group), Curtin P, Austin C, Curtin A, Gennings C, Arora M, et al
Science advances 2018;4(5):eaat1293-

Enrichment of rare copy number variation in children with developmental language disorder
Kalnak N, Stamouli S, Peyrard-janvid M, Rabkina I, Becker M, Klingberg T, et al
Clinical genetics 2018;94(3-4):313-320

EU-AIMS Longitudinal European Autism Project (LEAP): the autism twin cohort
Eu-aims Leap Group, Isaksson J, Tammimies K, Neufeld J, Cauvet É, Lundin K, et al
Molecular autism 2018;9():26-

Intracellular signalling pathways and cytoskeletal functions converge on the psoriasis candidate gene CCHCR1 expressed at P-bodies and centrosomes
Tervaniemi Mh, Katayama S, Skoog T, Siitonen Ha, Vuola J, Nuutila K, et al
BMC genomics 2018;19(1):432-

Long-term social skills group training for children and adolescents with autism spectrum disorder: a randomized controlled trial
Jonsson U, Olsson Nc, Coco C, Görling A, Flygare O, Råde A, et al
European child & adolescent psychiatry 2018;():-

A Novel Way to Measure and Predict Development: A Heuristic Approach to Facilitate the Early Detection of Neurodevelopmental Disorders
Bee-pri Study Group, Marschik Pb, Pokorny Fb, Peharz R, Zhang D, O'muircheartaigh J, et al
Current neurology and neuroscience reports 2017;17(5):43-

Derivation of human iPS cell lines from monozygotic twins in defined and xeno free conditions
Uhlin E, Ronnholm H, Day K, Kele M, Tammimies K, Bolte S, et al
STEM CELL RESEARCH 2017;:22-25

Fetal and postnatal metal dysregulation in autism
Arora M, Reichenberg A, Willfors C, Austin C, Gennings C, Berggren S, et al
Nature communications 2017;8():15493-

Medical history of discordant twins and environmental etiologies of autism
Willfors C, Carlsson T, Anderlid Bm, Nordgren A, Kostrzewa E, Berggren S, et al
Translational psychiatry 2017;7(1):e1014-

Minor physical anomalies in neurodevelopmental disorders: a twin study
Myers L, Anderlid Bm, Nordgren A, Willfors C, Kuja-halkola R, Tammimies K, et al
CHILD AND ADOLESCENT PSYCHIATRY AND MENTAL HEALTH 2017;:57-

Recurrence quantification analysis to characterize cyclical components of environmental elemental exposures during fetal and postnatal development
Curtin P, Curtin A, Austin C, Gennings C, Tammimies K, Bölte S, et al
PloS one 2017;12(11):e0187049-

Social Skills Training for Children and Adolescents With Autism Spectrum Disorder: A Randomized Controlled Trial
Choque Olsson N, Flygare O, Coco C, Görling A, Råde A, Chen Q, et al
Journal of the American Academy of Child and Adolescent Psychiatry 2017;56(7):585-592

Ciliary dyslexia candidate genes DYX1C1 and DCDC2 are regulated by Regulatory Factor X (RFX) transcription factors through X-box promoter motifs
Tammimies K, Bieder A, Lauter G, Sugiaman-trapman D, Torchet R, Hokkanen Me, et al
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2016;30(10):3578-3587

Genome-wide characteristics of de novo mutations in autism
Yuen Rk, Merico D, Cao H, Pellecchia G, Alipanahi B, Thiruvahindrapuram B, et al
NPJ genomic medicine 2016;1():160271-1602710

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
Ddd Study, Uk10k Consortium, Homozygosity Mapping Collaborative For Autism, De Rubeis S, He X, Goldberg Ap, 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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