Tammimies Research and Publications

Tammimies Lab conducts both basic and clinically orientated research projects to better understand NDDs. Read more about our on-going research projects and the recent results. Our group is one of the four research groups at the Center of Neurodevelopmental Disorders at KI (KIND).

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Research interests

Genetics of Neurodevelopmental Disorders (NDDs)
Our lab is utilizing large-scale genomic data to determine novel associations between genetic variants and developmental pathways linked with NDDs. We also employ prediction modelling, integrating genetic and clinical data, to examine the effects of genetic background on the outcomes of autism interventions. Additionally, through engaging directly with autistic individuals and their families, we are discovering how to translate genetic research to clinical practice in a way which meets the needs of the autism community. We also aim to understand the extent to which clinical genetic testing is utilized in the Swedish health care system. 

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Nerve cells Photo: iStock

Molecular and cellular models of NDDs
We are applying 2D and 3D cellular modelling techniques to elucidate the effect of genetic factors in NDDs. Through cutting-edge techniques, we explore molecular pathways of genes of interest, both independently and in interaction with environmental factors. Understanding the developing brain will contribute to improving clinical outcomes and well-being in NDDs. This shall prove crucial for the innovation of quality intervention strategies.

Selected Publications

The influence of common polygenic risk and gene sets on social skills group training response in autism spectrum disorder.
Danyang Li, Nora Choque-Olsson, Hong Jiao, Nina Norgren, Ulf Jonsson, Sven Bölte, and Kristiina Tammimies.
Npj Genomic Medicine, 12 October 2020

Presynaptic dysfunction in CASK-related neurodevelopmental disorders.
Becker M, Mastropasqua F, Reising JP, Maier S, Ho ML, Rabkina I, et al
Transl Psychiatry 2020 Sep;10(1):312

Association between Copy Number Variation and Response to Social Skills Training in Autism Spectrum Disorder.
Tammimies K, Li D, Rabkina I, Stamouli S, Becker M, Nicolaou V, et al
Sci Rep 2019 Jul;9(1):9810

Genetic mechanisms of regression in autism spectrum disorder.
Tammimies K
Neurosci Biobehav Rev 2019 Jul;102():208-220

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
Clin. Genet. 2018 10;94(3-4):313-320

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 Res Hum Genet 2018 02;21(1):1-11

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 J. 2016 10;30(10):3578-3587

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 Sep;314(9):895-903



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