Publications

Selected publications and preprints:

2018

Mirauta B, Seaton DD, Bensaddek D, Brenes A, Bonder MJ, Kilpinen H, HipSci consortium, Stegle O, Lamond A. Population-scale proteome variation in human induced pluripotent stem cells. bioRxiv 2018 http://doi.org/10.1101/439216

Schwartzentruber J, Foskolou S, Kilpinen H, Rodrigues J, Alasoo K, Knights AJ, Patel M, Goncalves A, Ferreira R, Benn CL, Wilbrey A, Bictash M, Impey E, Cao L, Lainez S, Loucif AJ, Whiting PJ, HIPSCI Consortium, Gutteridge A, Gaffney DJ. Molecular and functional variation in iPSC-derived sensory neurons. Nat Genet. 2018 Jan;50(1):54-61.
(Also available at: bioRxiv 2017 http://doi.org/10.1101/095943)

2017

Kilpinen H*, Goncalves A*, Leha A, Afzal V, Ashford S, Bala S, Bensaddek D, Casale FP, Culley O, Danecek P, Faulconbridge A, Harrison P, McCarthy D, McCarthy SA, Meleckyte R, Memari Y, Moens N, Soares F, Streeter I, Chukwuma AA, Alderton A, Nelson R, Harper S, Patel M, Clarke L, Halai R, Kirton CM, Kolb-Kokocinski A, Beales P, Birney E, Danovi D, Lamond AI, Ouwehand WH, Vallier L, Watt FM, Durbin R, Stegle O, Gaffney DJ. Common genetic variation drives molecular heterogeneity in human iPSCs. Nature 2017 Jun 15;546(7658):370-375.
(Also available at: bioRxiv 2016 http://doi.org/10.1101/055160)

2015

Waszak SM*, Delaneau O*, Gschwind AR, Kilpinen H, Raghav SK, Witwicki RM, Orioli A, Wiederkehr M, Panousis NI, Yurovsky A, Romano-Palumbo L, Planchon A, Bielser D, Padioleau I, Udin G, Thurnheer S, Hacker D, Hernandez N, Reymond A, Deplancke B, Dermitzakis ET. Population Variation and Genetic Control of Modular Chromatin Architecture in Humans. Cell. 2015 Aug 27;162(5):1039-50.

2014

Rossi M*, Kilpinen H*, Muona M, Surakka I, Ingle C, Lahtinen J, Hennah W, Ripatti S, Hovatta I. Allele-specific regulation of DISC1 expression by miR-135b-5p. Eur J Hum Genet. 2014 Jun;22(6):840-3.

Waszak SM, Kilpinen H, Gschwind AR, Orioli A, Raghav SK, Witwicki RM, Migliavacca E, Yurovsky A, Lappalainen T, Hernandez N, Reymond A, Dermitzakis ET, Deplancke B. Identification and removal of low-complexity sites in allele-specific analysis of ChIP-seq data. Bioinformatics. 2014 Jan 15;30(2):165-71.

2013

Kilpinen H*, Waszak SM*, Gschwind AR*, Raghav SK, Witwicki RM, Orioli A, Migliavacca E, Wiederkehr M, Gutierrez-Arcelus M, Panousis NI, Yurovsky A, Lappalainen T, Romano-Palumbo L, Planchon A, Bielser D, Bryois J, Padioleau I, Udin G, Thurnheer S, Hacker D, Core LJ, Lis JT, Hernandez N, Reymond A, Deplancke B, Dermitzakis ET. Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription. Science. 2013 Nov 8;342(6159):744-7.

Kilpinen H and Barrett JC. How next-generation sequencing is transforming complex disease genetics. Trends Genet. 2013 Jan;29(1):23-30.

2012

Kilpinen H and Dermitzakis ET. Genetic and epigenetic contribution to complex traits. Hum Mol Genet. 2012 Oct 15;21(R1):R24-8.

2009 and earlier

Kilpinen H, Ylisaukko-oja T, Rehnström K, Gaál E, Turunen JA, Kempas E, von Wendt L, Varilo T, Peltonen L. Linkage and Linkage Disequilibrium Scan for Autism Loci in an Extended Pedigree from Finland. Hum Mol Genet. 2009 Aug 1;18(15):2912-21.

Kilpinen H, Ylisaukko-oja T, Hennah W, Palo OM, Varilo T, Vanhala R, Nieminen-von Wendt T, von Wendt L, Paunio T, Peltonen L. Association of DISC1 with autism and Asperger syndrome. Mol Psychiatry 2008 Feb; 13(2):187-96.