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Helena Kilpinen
Helena Kilpinen
Підтверджена електронна адреса в helsinki.fi - Домашня сторінка
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Рік
Synaptic, transcriptional and chromatin genes disrupted in autism
S De Rubeis, X He, AP Goldberg, CS Poultney, K Samocha, ...
Nature 515 (7526), 209-215, 2014
29542014
Pan-cancer analysis of whole genomes
Nature 578 (7793), 82-93, 2020
2516*2020
Transcriptome and genome sequencing uncovers functional variation in humans
T Lappalainen, M Sammeth, MR Friedländer, PAC ‘t Hoen, J Monlong, ...
Nature 501 (7468), 506-511, 2013
21242013
Common genetic variation drives molecular heterogeneity in human iPSCs
H Kilpinen, A Goncalves, A Leha, V Afzal, K Alasoo, S Ashford, S Bala, ...
Nature 546 (15 June 2017), 370-375, 2017
6442017
Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription
H Kilpinen, SM Waszak, AR Gschwind, SK Raghav, RM Witwicki, A Orioli, ...
Science 342 (6159), 744-747, 2013
4072013
Effect of predicted protein-truncating genetic variants on the human transcriptome
MA Rivas, M Pirinen, DF Conrad, M Lek, EK Tsang, KJ Karczewski, ...
Science 348 (6235), 666-669, 2015
3652015
Genomic basis for RNA alterations in cancer
PCAWG Transcriptome Core Group Calabrese Claudia 2 Davidson Natalie R. 3 4 5 ...
Nature 578 (7793), 129-136, 2020
3042020
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories
PAC 't Hoen, MR Friedländer, J Almlöf, M Sammeth, I Pulyakhina, ...
Nature biotechnology 31 (11), 1015-1022, 2013
2772013
Association of DISC1 with autism and Asperger syndrome
H Kilpinen, T Ylisaukko-oja, W Hennah, OM Palo, T Varilo, R Vanhala, ...
Molecular psychiatry 13 (2), 187-196, 2008
2512008
Population variation and genetic control of modular chromatin architecture in humans
SM Waszak, O Delaneau, AR Gschwind, H Kilpinen, SK Raghav, ...
Cell 162 (5), 1039-1050, 2015
2432015
Molecular and functional variation in iPSC-derived sensory neurons
J Schwartzentruber, S Foskolou, H Kilpinen, J Rodrigues, K Alasoo, ...
Nature genetics 50 (1), 54-61, 2018
2282018
Association of distinct allelic haplotypes of DISC1 with psychotic and bipolar spectrum disorders and with underlying cognitive impairments
OM Palo, M Antila, K Silander, W Hennah, H Kilpinen, P Soronen, ...
Human molecular genetics 16 (20), 2517-2528, 2007
1572007
Common variant at 16p11. 2 conferring risk of psychosis
S Steinberg, S de Jong, M Mattheisen, J Costas, D Demontis, S Jamain, ...
Molecular psychiatry 19 (1), 108-114, 2014
1352014
How next-generation sequencing is transforming complex disease genetics
H Kilpinen, JC Barrett
Trends in Genetics 29 (1), 23-30, 2013
1052013
Families with the risk allele of DISC1 reveal a link between schizophrenia and another component of the same molecular pathway, NDE1
W Hennah, L Tomppo, T Hiekkalinna, OM Palo, H Kilpinen, J Ekelund, ...
Human molecular genetics 16 (5), 453-462, 2007
1012007
Mondo-Mlx mediates organismal sugar sensing through the Gli-similar transcription factor sugarbabe
J Mattila, E Havula, E Suominen, M Teesalu, I Surakka, R Hynynen, ...
Cell reports 13 (2), 350-364, 2015
972015
Genetic and epigenetic contribution to complex traits
H Kilpinen, ET Dermitzakis
Human molecular genetics 21 (R1), R24-R28, 2012
942012
Genomic basis for RNA alterations in cancer
PTC Group, C Calabrese, NR Davidson, D Demircioğlu, NA Fonseca, ...
Nature 578 (7793), 129, 2020
782020
Population-scale proteome variation in human induced pluripotent stem cells
BA Mirauta, DD Seaton, D Bensaddek, A Brenes, MJ Bonder, H Kilpinen, ...
Elife 9, e57390, 2020
692020
Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics
MJ Bonder, C Smail, MJ Gloudemans, L Frésard, D Jakubosky, ...
Nature genetics 53 (3), 313-321, 2021
652021
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