Kristiina Tammimies
Kristiina Tammimies
Centre of Neurodevelopmental Disorders at Karolinska Institutet
Verifierad e-postadress på ki.se
TitelCiteras avÅr
Synaptic, transcriptional and chromatin genes disrupted in autism
S De Rubeis, X He, AP Goldberg, CS Poultney, K Samocha, AE Cicek, ...
Nature 515 (7526), 209, 2014
11112014
Whole-genome sequencing of quartet families with autism spectrum disorder
RKC Yuen, B Thiruvahindrapuram, D Merico, S Walker, K Tammimies, ...
Nature medicine 21 (2), 185, 2015
3112015
Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder
K Tammimies, CR Marshall, S Walker, G Kaur, B Thiruvahindrapuram, ...
Jama 314 (9), 895-903, 2015
1552015
Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder
M Uddin, K Tammimies, G Pellecchia, B Alipanahi, P Hu, Z Wang, D Pinto, ...
Nature genetics 46 (7), 742, 2014
1072014
Increased expression of the dyslexia candidate gene DCDC2 affects length and signaling of primary cilia in neurons
S Massinen, ME Hokkanen, H Matsson, K Tammimies, I Tapia-Páez, ...
PLoS One 6 (6), e20580, 2011
932011
Genome-wide characteristics of de novo mutations in autism
RKC Yuen, D Merico, H Cao, G Pellecchia, B Alipanahi, ...
NPJ genomic medicine 1, 16027, 2016
882016
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes
AC Lionel, K Tammimies, AK Vaags, JA Rosenfeld, JW Ahn, D Merico, ...
Human molecular genetics 23 (10), 2752-2768, 2013
782013
The complex of TFII-I, PARP1, and SFPQ proteins regulates the DYX1C1 gene implicated in neuronal migration and dyslexia
I Tapia-Páez, K Tammimies, S Massinen, AL Roy, J Kere
The FASEB Journal 22 (8), 3001-3009, 2008
732008
Functional interaction of DYX1C1 with estrogen receptors suggests involvement of hormonal pathways in dyslexia
S Massinen, K Tammimies, I Tapia-Páez, H Matsson, ME Hokkanen, ...
Human molecular genetics 18 (15), 2802-2812, 2009
592009
Molecular networks of DYX1C1 gene show connection to neuronal migration genes and cytoskeletal proteins
K Tammimies, M Vitezic, H Matsson, S Le Guyader, TR Bürglin, T Öhman, ...
Biological psychiatry 73 (6), 583-590, 2013
392013
Fetal and postnatal metal dysregulation in autism
M Arora, A Reichenberg, C Willfors, C Austin, C Gennings, S Berggren, ...
Nature communications 8, 15493, 2017
342017
Copy number variation in Han Chinese individuals with autism spectrum disorder
MJ Gazzellone, X Zhou, AC Lionel, M Uddin, B Thiruvahindrapuram, ...
Journal of neurodevelopmental disorders 6 (1), 34, 2014
342014
SNP variations in the 7q33 region containing DGKI are associated with dyslexia in the Finnish and German populations
H Matsson, K Tammimies, M Zucchelli, H Anthoni, P Onkamo, ...
Behavior genetics 41 (1), 134-140, 2011
322011
The roots of autism and ADHD twin study in Sweden (RATSS)
S Bölte, C Willfors, S Berggren, J Norberg, L Poltrago, K Mevel, C Coco, ...
Twin Research and Human Genetics 17 (3), 164-176, 2014
292014
The rs3743205 SNP Is Important for the Regulation of the Dyslexia Candidate Gene DYX1C1 by Estrogen Receptor β and DNA Methylation
K Tammimies, I Tapia-Páez, J Rüegg, G Rosin, J Kere, JÅ Gustafsson, ...
Molecular Endocrinology 26 (4), 619-629, 2012
232012
A novel way to measure and predict development: a heuristic approach to facilitate the early detection of neurodevelopmental disorders
PB Marschik, FB Pokorny, R Peharz, D Zhang, J O’Muircheartaigh, ...
Current neurology and neuroscience reports 17 (5), 43, 2017
192017
Indexing effects of copy number variation on genes involved in developmental delay
M Uddin, G Pellecchia, B Thiruvahindrapuram, L D’Abate, D Merico, ...
Scientific reports 6, 28663, 2016
172016
Ciliary dyslexia candidate genes DYX1C1 and DCDC2 are regulated by Regulatory Factor X (RFX) transcription factors through X-box promoter motifs
K Tammimies, A Bieder, G Lauter, D Sugiaman-Trapman, R Torchet, ...
The FASEB Journal 30 (10), 3578-3587, 2016
162016
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
Y Liu, D Zhao, R Dong, X Yang, Y Zhang, K Tammimies, M Uddin, ...
American Journal of Medical Genetics Part A 167 (6), 1381-1385, 2015
142015
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes
M Woodbury-Smith, AD Paterson, B Thiruvahindrapduram, AC Lionel, ...
Human genetics 134 (2), 191-201, 2015
122015
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Artiklar 1–20