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Kristiina Tammimies
Researcher at Karolinska Institutet
Publications - 87
Citations - 5016
Kristiina Tammimies is an academic researcher from Karolinska Institutet. The author has contributed to research in topics: Autism spectrum disorder & Biology. The author has an hindex of 23, co-authored 69 publications receiving 4046 citations. Previous affiliations of Kristiina Tammimies include The Centre for Applied Genomics & Karolinska University Hospital.
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Journal ArticleDOI
Synaptic, transcriptional and chromatin genes disrupted in autism
Silvia De Rubeis,Xin-Xin He,Arthur P. Goldberg,Christopher S. Poultney,Kaitlin E. Samocha,A. Ercument Cicek,Yan Kou,Li Liu,Menachem Fromer,Menachem Fromer,R. Susan Walker,Tarjinder Singh,Lambertus Klei,Jack A. Kosmicki,Shih-Chen Fu,Branko Aleksic,Monica Biscaldi,Patrick Bolton,Jessica M. Brownfeld,Jinlu Cai,Nicholas G. Campbell,Angel Carracedo,Angel Carracedo,Maria H. Chahrour,Andreas G. Chiocchetti,Hilary Coon,Emily L. Crawford,Lucy Crooks,Sarah Curran,Geraldine Dawson,Eftichia Duketis,Bridget A. Fernandez,Louise Gallagher,Evan T. Geller,Stephen J. Guter,R. Sean Hill,R. Sean Hill,Iuliana Ionita-Laza,Patricia Jiménez González,Helena Kilpinen,Sabine M. Klauck,Alexander Kolevzon,Irene Lee,Jing Lei,Terho Lehtimäki,Chiao-Feng Lin,Avi Ma'ayan,Christian R. Marshall,Alison L. McInnes,Benjamin M. Neale,Michael John Owen,Norio Ozaki,Mara Parellada,Jeremy R. Parr,Shaun Purcell,Kaija Puura,Deepthi Rajagopalan,Karola Rehnström,Abraham Reichenberg,Aniko Sabo,Michael Sachse,Stephen Sanders,Chad M. Schafer,Martin Schulte-Rüther,David Skuse,David Skuse,Christine Stevens,Peter Szatmari,Kristiina Tammimies,Otto Valladares,Annette Voran,Li-San Wang,Lauren A. Weiss,A. Jeremy Willsey,Timothy W. Yu,Timothy W. Yu,Ryan K. C. Yuen,Edwin H. Cook,Christine M. Freitag,Michael Gill,Christina M. Hultman,Thomas Lehner,Aarno Palotie,Aarno Palotie,Aarno Palotie,Gerard D. Schellenberg,Pamela Sklar,Matthew W. State,James S. Sutcliffe,Christopher A. Walsh,Christopher A. Walsh,Stephen W. Scherer,Michael E. Zwick,Jeffrey C. Barrett,David J. Cutler,Kathryn Roeder,Bernie Devlin,Mark J. Daly,Mark J. Daly,Joseph D. Buxbaum +99 more
TL;DR: Using exome sequencing, it is shown that analysis of rare coding variation in 3,871 autism cases and 9,937 ancestry-matched or parental controls implicates 22 autosomal genes at a false discovery rate of < 0.05, plus a set of 107 genes strongly enriched for those likely to affect risk (FDR < 0.30).
Journal ArticleDOI
Whole-genome sequencing of quartet families with autism spectrum disorder
Ryan K. C. Yuen,Bhooma Thiruvahindrapuram,Daniele Merico,Susan Walker,Kristiina Tammimies,Ny Hoang,Christina Chrysler,Thomas Nalpathamkalam,Giovanna Pellecchia,Yi Liu,Matthew J. Gazzellone,Lia D’Abate,Eric Deneault,Jennifer L. Howe,Richard S C Liu,Ann Thompson,Mehdi Zarrei,Mohammed Uddin,Christian R. Marshall,Robert H. Ring,Lonnie Zwaigenbaum,Peter N. Ray,Rosanna Weksberg,Melissa T. Carter,Bridget A. Fernandez,Wendy Roberts,Peter Szatmari,Stephen W. Scherer +27 more
TL;DR: By examining de novo and rare inherited single-nucleotide and structural variations in genes previously reported to be associated with ASD or other neurodevelopmental disorders, it is found that some of the affected siblings carried different ASD-relevant mutations.
Journal ArticleDOI
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder
Kristiina Tammimies,Kristiina Tammimies,Christian R. Marshall,Susan Walker,Gaganjot Kaur,Bhooma Thiruvahindrapuram,Anath C. Lionel,Ryan K. C. Yuen,Mohammed Uddin,Wendy Roberts,Rosanna Weksberg,Marc Woodbury-Smith,Lonnie Zwaigenbaum,Evdokia Anagnostou,Zhuozhi Wang,John Wei,Jennifer L. Howe,Matthew J. Gazzellone,Lynette Lau,Wilson W L Sung,Kathy Whitten,Cathy Vardy,Cathy Vardy,Victoria Crosbie,Victoria Crosbie,Brian Tsang,Lia D’Abate,Winnie W. L. Tong,Sandra Luscombe,Tyna Doyle,Tyna Doyle,Melissa T. Carter,Peter Szatmari,Susan Stuckless,Daniele Merico,Dimitri J. Stavropoulos,Stephen W. Scherer,Stephen W. Scherer,Bridget A. Fernandez,Bridget A. Fernandez +39 more
TL;DR: Among a heterogeneous sample of children with ASD, the molecular diagnostic yields of CMA and WES were comparable, and the combined molecular diagnostic yield was higher in children with more complex morphological phenotypes in comparison with the children in the essential category.
Journal ArticleDOI
Genome-wide characteristics of de novo mutations in autism
Ryan K. C. Yuen,Daniele Merico,Hongzhi Cao,Giovanna Pellecchia,Babak Alipanahi,Bhooma Thiruvahindrapuram,Xin Tong,Yuhui Sun,Dandan Cao,Tao Zhang,Xueli Wu,Xin Jin,Ze Zhou,Xiaomin Liu,Thomas Nalpathamkalam,Susan Walker,Jennifer L. Howe,Zhuozhi Wang,Jeffrey R. MacDonald,Ada Js Chan,Lia D’Abate,Eric Deneault,Michelle T. Siu,Kristiina Tammimies,Mohammed Uddin,Mehdi Zarrei,Mingbang Wang,Yingrui Li,Jun Wang,Jian Wang,Huanming Yang,Matt Bookman,Jonathan Bingham,Samuel S Gross,Dion Loy,Mathew T. Pletcher,Christian R. Marshall,Evdokia Anagnostou,Lonnie Zwaigenbaum,Rosanna Weksberg,Bridget A. Fernandez,Wendy Roberts,Peter Szatmari,David Glazer,Brendan J. Frey,Robert H. Ring,Xun Xu,Stephen W. Scherer +47 more
TL;DR: In this paper, the authors performed whole-genome sequencing (WGS) of 200 ASD parent-child trios and characterized germline and somatic DNMs and found that the majority of germline DNMs (75.6%) originated from the father and these increased significantly with paternal age only (p=4.2×10-10).
Journal ArticleDOI
Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder
Mohammed Uddin,Kristiina Tammimies,Giovanna Pellecchia,Babak Alipanahi,Pingzhao Hu,Zhuozhi Wang,Dalila Pinto,Lynette Lau,Thomas Nalpathamkalam,Christian R. Marshall,Benjamin J. Blencowe,Brendan J. Frey,Daniele Merico,Ryan K. C. Yuen,Stephen W. Scherer +14 more
TL;DR: The results suggest that brain-expressed exons under purifying selection should be prioritized in genotype-phenotype studies for ASD and related neurodevelopmental conditions.