An integrated encyclopedia of DNA elements in the human genome ENCODE Project Consortium Nature 489 (7414), 57, 2012 | 17229 | 2012 |
Next-generation genotype imputation service and methods S Das, L Forer, S Schönherr, C Sidore, AE Locke, A Kwong, SI Vrieze, ... Nature genetics 48 (10), 1284-1287, 2016 | 3643 | 2016 |
A reference panel of 64,976 haplotypes for genotype imputation Nature genetics 48 (10), 1279-1283, 2016 | 3113 | 2016 |
The MicroArray Quality Control (MAQC) project shows inter-and intraplatform reproducibility of gene expression measurements. L Shi, LH Reid, WD Jones, R Shippy, JA Warrington, SC Baker, PJ Collins, ... Nature biotechnology 24 (9), 1151-1161, 2006 | 2438 | 2006 |
Patterns and rates of exonic de novo mutations in autism spectrum disorders BM Neale, Y Kou, L Liu, A Ma’Ayan, KE Samocha, A Sabo, CF Lin, ... Nature 485 (7397), 242-245, 2012 | 2086 | 2012 |
Genome-wide association study identifies 30 loci associated with bipolar disorder EA Stahl, G Breen, AJ Forstner, A McQuillin, S Ripke, V Trubetskoy, ... Nature genetics 51 (5), 793-803, 2019 | 1486 | 2019 |
The ADP/ATP translocator is not essential for the mitochondrial permeability transition pore JE Kokoszka, KG Waymire, SE Levy, JE Sligh, J Cai, DP Jones, ... Nature 427 (6973), 461-465, 2004 | 1334 | 2004 |
Genetic and functional drivers of diffuse large B cell lymphoma A Reddy, J Zhang, NS Davis, AB Moffitt, CL Love, A Waldrop, S Leppa, ... Cell 171 (2), 481-494. e15, 2017 | 1073 | 2017 |
A comprehensive evaluation of multicategory classification methods for microarray gene expression cancer diagnosis A Statnikov, CF Aliferis, I Tsamardinos, D Hardin, S Levy Bioinformatics 21 (5), 631-643, 2005 | 1063 | 2005 |
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways ET Cirulli, BN Lasseigne, S Petrovski, PC Sapp, PA Dion, CS Leblond, ... Science 347 (6229), 1436-1441, 2015 | 1045 | 2015 |
Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology N Mullins, AJ Forstner, KS O’Connell, B Coombes, JRI Coleman, Z Qiao, ... Nature genetics 53 (6), 817-829, 2021 | 1009 | 2021 |
Strong association of de novo copy number mutations with sporadic schizophrenia B Xu, JL Roos, S Levy, EJ Van Rensburg, JA Gogos, M Karayiorgou Nature genetics 40 (7), 880-885, 2008 | 978 | 2008 |
A comprehensive assessment of RNA-seq accuracy, reproducibility and information content by the Sequencing Quality Control Consortium Nature biotechnology 32 (9), 903-914, 2014 | 879 | 2014 |
The pan-ErbB negative regulator Lrig1 is an intestinal stem cell marker that functions as a tumor suppressor AE Powell, Y Wang, Y Li, EJ Poulin, AL Means, MK Washington, ... Cell 149 (1), 146-158, 2012 | 794 | 2012 |
Experimentally derived metastasis gene expression profile predicts recurrence and death in patients with colon cancer JJ Smith, NG Deane, F Wu, NB Merchant, B Zhang, A Jiang, P Lu, ... Gastroenterology 138 (3), 958-968, 2010 | 710 | 2010 |
A neurodegeneration-specific gene-expression signature of acutely isolated microglia from an amyotrophic lateral sclerosis mouse model IM Chiu, ETA Morimoto, H Goodarzi, JT Liao, S O’Keeffe, HP Phatnani, ... Cell reports 4 (2), 385-401, 2013 | 709 | 2013 |
The genetic landscape of mutations in Burkitt lymphoma C Love, Z Sun, D Jima, G Li, J Zhang, R Miles, KL Richards, CH Dunphy, ... Nature genetics 44 (12), 1321-1325, 2012 | 695 | 2012 |
Advancements in next-generation sequencing SE Levy, RM Myers Annual review of genomics and human genetics 17 (1), 95-115, 2016 | 690 | 2016 |
Increased epidermal growth factor receptor gene copy number is associated with poor prognosis in head and neck squamous cell carcinomas CH Chung, K Ely, L McGavran, M Varella-Garcia, J Parker, N Parker, ... Journal of clinical oncology 24 (25), 4170-4176, 2006 | 682 | 2006 |
Genome-wide analyses identify KIF5A as a novel ALS gene A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ... Neuron 97 (6), 1267-1288, 2018 | 648 | 2018 |