| 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 | 2686 | 2014 |
| 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 | 2039 | 2013 |
| Pan-cancer analysis of whole genomes Nature 578 (7793), 82-93, 2020 | 1657* | 2020 |
| 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 | 572 | 2017 |
| 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 | 398 | 2013 |
| 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 | 341 | 2015 |
| 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 | 273 | 2020 |
| 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 | 268 | 2013 |
| 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 | 246 | 2008 |
| 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 | 238 | 2015 |
| 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 | 198 | 2018 |
| 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 | 155 | 2007 |
| 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 | 130 | 2014 |
| 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 | 102 | 2007 |
| How next-generation sequencing is transforming complex disease genetics H Kilpinen, JC Barrett Trends in Genetics 29 (1), 23-30, 2013 | 100 | 2013 |
| Genetic and epigenetic contribution to complex traits H Kilpinen, ET Dermitzakis Human molecular genetics 21 (R1), R24-R28, 2012 | 88 | 2012 |
| 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 | 84 | 2015 |
| 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 | 55 | 2020 |
| Mitochondrial aspartate/glutamate carrier SLC25A12 gene is associated with autism JA Turunen, K Rehnström, H Kilpinen, M Kuokkanen, E Kempas, ... Autism Research 1 (3), 189-192, 2008 | 53 | 2008 |
| 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 | 45 | 2021 |
