| An integrated encyclopedia of DNA elements in the human genome ENCODE Project Consortium Nature 489 (7414), 57, 2012 | 16831 | 2012 |
| Landscape of transcription in human cells S Djebali, CA Davis, A Merkel, A Dobin, T Lassmann, A Mortazavi, ... Nature 489 (7414), 101-108, 2012 | 5579 | 2012 |
| GENCODE: the reference human genome annotation for The ENCODE Project J Harrow, A Frankish, JM Gonzalez, E Tapanari, M Diekhans, ... Genome research 22 (9), 1760-1774, 2012 | 5259 | 2012 |
| Genetic effects on gene expression across human tissues GTEx Consortium Lead analysts: Aguet François 1 Brown Andrew A. 2 3 4 Castel ... Nature 550 (7675), 204-213, 2017 | 3370 | 2017 |
| A user's guide to the encyclopedia of DNA elements (ENCODE) ENCODE Project Consortium PLoS biology 9 (4), e1001046, 2011 | 855 | 2011 |
| A user's guide to the encyclopedia of DNA elements (ENCODE) RM Myers, J Stamatoyannopoulos, M Snyder, I Dunham, RC Hardison, ... PLoS biology 9 (4), 2011 | 676 | 2011 |
| Dynamic landscape and regulation of RNA editing in mammals MH Tan, Q Li, R Shanmugam, R Piskol, J Kohler, AN Young, KI Liu, ... Nature 550 (7675), 249-254, 2017 | 550 | 2017 |
| The GENCODE pseudogene resource B Pei, C Sisu, A Frankish, C Howald, L Habegger, XJ Mu, R Harte, ... Genome biology 13, 1-26, 2012 | 370 | 2012 |
| Comparative analysis of the transcriptome across distant species MB Gerstein, J Rozowsky, KK Yan, D Wang, C Cheng, JB Brown, ... Nature 512 (7515), 445-448, 2014 | 335 | 2014 |
| Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes G Merla, C Howald, CN Henrichsen, R Lyle, C Wyss, MT Zabot, ... The American Journal of Human Genetics 79 (2), 332-341, 2006 | 218 | 2006 |
| Chromatin three-dimensional interactions mediate genetic effects on gene expression O Delaneau, M Zazhytska, C Borel, G Giannuzzi, G Rey, C Howald, ... Science 364 (6439), eaat8266, 2019 | 189 | 2019 |
| Genome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/B EK Karlsson, S Sigurdsson, E Ivansson, R Thomas, I Elvers, J Wright, ... Genome biology 14, 1-16, 2013 | 175 | 2013 |
| Co-expression networks reveal the tissue-specific regulation of transcription and splicing A Saha, Y Kim, ADH Gewirtz, B Jo, C Gao, IC McDowell, BE Engelhardt, ... Genome research 27 (11), 1843-1858, 2017 | 172 | 2017 |
| Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11. 23-q21. 11 CR Marshall, EJ Young, AM Pani, ML Freckmann, Y Lacassie, C Howald, ... The American Journal of Human Genetics 83 (1), 106-111, 2008 | 145 | 2008 |
| Detection of aneuploidies by paralogous sequence quantification S Deutsch, U Choudhury, G Merla, C Howald, A Sylvan, SE Antonarakis Journal of medical genetics 41 (12), 908-915, 2004 | 129 | 2004 |
| Combined genetic and transcriptome analysis of patients with SLE: distinct, targetable signatures for susceptibility and severity NI Panousis, GK Bertsias, H Ongen, I Gergianaki, MG Tektonidou, ... Annals of the rheumatic diseases 78 (8), 1079-1089, 2019 | 115 | 2019 |
| Transcriptomic analyses reveal rhythmic and CLOCK-driven pathways in human skeletal muscle L Perrin, U Loizides-Mangold, S Chanon, C Gobet, N Hulo, L Isenegger, ... Elife 7, e34114, 2018 | 113 | 2018 |
| Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D A Viñuela, A Varshney, M van de Bunt, RB Prasad, O Asplund, A Bennett, ... Nature communications 11 (1), 4912, 2020 | 104 | 2020 |
| A functional circadian clock is required for proper insulin secretion by human pancreatic islet cells C Saini, V Petrenko, P Pulimeno, L Giovannoni, T Berney, M Hebrok, ... Diabetes, Obesity and Metabolism 18 (4), 355-365, 2016 | 104 | 2016 |
| An atypical 7q11. 23 deletion in a normal IQ Williams–Beuren syndrome patient GB Ferrero, C Howald, L Micale, E Biamino, B Augello, C Fusco, ... European Journal of Human Genetics 18 (1), 33-38, 2010 | 98 | 2010 |
