H
Helena Kilpinen
Researcher at European Bioinformatics Institute
Publications - 42
Citations - 8218
Helena Kilpinen is an academic researcher from European Bioinformatics Institute. The author has contributed to research in topics: Gene & Biology. The author has an hindex of 21, co-authored 30 publications receiving 6354 citations. Previous affiliations of Helena Kilpinen include Wellcome Trust & Wellcome Trust Sanger Institute.
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Journal ArticleDOI
Genomic basis for RNA alterations in cancer
Claudia Calabrese,Natalie R. Davidson,Deniz Demircioğlu,Deniz Demircioğlu,Nuno A. Fonseca,Yao He,André Kahles,Kjong-Van Lehmann,Fenglin Liu,Yuichi Shiraishi,Cameron M. Soulette,Lara Urban,Liliana Greger,Siliang Li,Dongbing Liu,Marc D. Perry,Marc D. Perry,Qian Xiang,Fan Zhang,Junjun Zhang,Peter Bailey,Serap Erkek,Katherine A. Hoadley,Yong Hou,Matthew R. Huska,Helena Kilpinen,Jan O. Korbel,Maximillian G. Marin,Julia Markowski,Tannistha Nandi,Qiang Pan-Hammarström,Chandra Sekhar Pedamallu,Chandra Sekhar Pedamallu,Reiner Siebert,Stefan G. Stark,Hong Su,Patrick Tan,Patrick Tan,Sebastian M. Waszak,Christina K. Yung,Shida Zhu,Philip Awadalla,Philip Awadalla,Chad J. Creighton,Matthew Meyerson,Matthew Meyerson,B. F. Francis Ouellette,Kui Wu,Huanming Yang,Alvis Brazma,Angela N. Brooks,Angela N. Brooks,Angela N. Brooks,Jonathan Göke,Gunnar Rätsch,Roland F. Schwarz,Oliver Stegle,Oliver Stegle,Zemin Zhang +58 more
TL;DR: The most comprehensive catalogue of cancer-associated gene alterations to date, obtained by characterizing tumour transcriptomes from 1,188 donors of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Gome Atlas (TCGA) was presented in this article.
Journal ArticleDOI
Population Variation and Genetic Control of Modular Chromatin Architecture in Humans
Sebastian M. Waszak,Sebastian M. Waszak,Olivier Delaneau,Olivier Delaneau,Andreas R. Gschwind,Andreas R. Gschwind,Helena Kilpinen,Helena Kilpinen,Sunil K. Raghav,Robert M. Witwicki,Andrea Orioli,Michaël Wiederkehr,Nikolaos I Panousis,Nikolaos I Panousis,Alisa Yurovsky,Alisa Yurovsky,Luciana Romano-Palumbo,Alexandra Planchon,Deborah Bielser,Ismael Padioleau,Ismael Padioleau,Gilles Udin,Sarah Thurnheer,David L. Hacker,Nouria Hernandez,Alexandre Reymond,Bart Deplancke,Bart Deplancke,Emmanouil T. Dermitzakis,Emmanouil T. Dermitzakis +29 more
TL;DR: It is proposed that local, sequence-independent chromatin variation emerges as a result of genetic perturbations in cooperative interactions between cis-regulatory elements that are located within the same genomic domain.
Journal ArticleDOI
Association of DISC1 with autism and Asperger syndrome.
Helena Kilpinen,Tero Ylisaukko-oja,William Hennah,O M Palo,Teppo Varilo,Raija Vanhala,T. Nieminen-von Wendt,L. von Wendt,Tiina Paunio,Leena Peltonen,Leena Peltonen +10 more
TL;DR: The allelic diversity of the DISC1, DISC2 and TRAX genes, clustered in 1q42, in Finnish families ascertained for infantile autism and Asperger syndrome and the strongest associations were obtained with broad diagnostic categories for both disorders and with affected males only.
Journal ArticleDOI
Molecular and functional variation in iPSC-derived sensory neurons.
Jeremy Schwartzentruber,Jeremy Schwartzentruber,Stefanie Foskolou,Helena Kilpinen,Julia Rodrigues,Kaur Alasoo,Andrew J Knights,Minal Patel,Angela Goncalves,Rita Ferreira,Caroline L. Benn,Anna Wilbrey,Magda Bictash,Emma Impey,Lishuang Cao,Sergio Lainez,Alexandre J.C. Loucif,Paul Whiting,Paul Whiting,Alex Gutteridge,Daniel J. Gaffney +20 more
TL;DR: It is estimated that recall-by-genotype studies that use iPSC-derived cells will require cells from at least 20–80 individuals to detect the effects of regulatory variants with moderately large effect sizes, despite high differentiation-induced variability.
Journal ArticleDOI
Association of distinct allelic haplotypes of DISC1 with psychotic and bipolar spectrum disorders and with underlying cognitive impairments
Outi M. Palo,Mervi Antila,Kaisa Silander,William Hennah,Helena Kilpinen,Pia Soronen,Annamari Tuulio-Henriksson,Tuula Kieseppä,Timo Partonen,Jouko Lönnqvist,Leena Peltonen,Leena Peltonen,Tiina Paunio +12 more
TL;DR: The results support involvement of DISC1 in the genetic aetiology of BPD and suggest that its distinct variants contribute to variation in the dimensional features of psychotic and bipolar spectrum disorders.