Functional impact of global rare copy number variation in autism spectrum disorders D Pinto, AT Pagnamenta, L Klei, R Anney, D Merico, R Regan, J Conroy, ... Nature 466 (7304), 368-372, 2010 | 2324 | 2010 |
Enrichment map: a network-based method for gene-set enrichment visualization and interpretation D Merico, R Isserlin, O Stueker, A Emili, GD Bader PloS one 5 (11), e13984, 2010 | 2200 | 2010 |
Pathway enrichment analysis and visualization of omics data using g: Profiler, GSEA, Cytoscape and EnrichmentMap J Reimand, R Isserlin, V Voisin, M Kucera, C Tannus-Lopes, ... Nature protocols 14 (2), 482-517, 2019 | 1490 | 2019 |
The human splicing code reveals new insights into the genetic determinants of disease HY Xiong, B Alipanahi, LJ Lee, H Bretschneider, D Merico, RKC Yuen, ... Science 347 (6218), 1254806, 2015 | 1424 | 2015 |
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders D Pinto, E Delaby, D Merico, M Barbosa, A Merikangas, L Klei, ... The American Journal of Human Genetics 94 (5), 677-694, 2014 | 1085 | 2014 |
A copy number variation map of the human genome M Zarrei, JR MacDonald, D Merico, SW Scherer Nature reviews genetics 16 (3), 172-183, 2015 | 947 | 2015 |
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects JS Christian R Marshall, Daniel P Howrigan, Daniele Merico, Bhooma ... Nature Genetics 49 (1), 27-35, 2017 | 942 | 2017 |
Immune checkpoint inhibition for hypermutant glioblastoma multiforme resulting from germline biallelic mismatch repair deficiency E Bouffet, V Larouche, BB Campbell, D Merico, R De Borja, M Aronson, ... Journal of clinical oncology 34 (19), 2206-2211, 2016 | 847 | 2016 |
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder RK C Yuen, D Merico, M Bookman, J L Howe, B Thiruvahindrapuram, ... Nature neuroscience 20 (4), 602-611, 2017 | 787 | 2017 |
Whole-genome sequencing of quartet families with autism spectrum disorder RKC Yuen, B Thiruvahindrapuram, D Merico, S Walker, K Tammimies, ... Nature medicine 21 (2), 185-191, 2015 | 588 | 2015 |
Deep learning in biomedicine M Wainberg, D Merico, A Delong, BJ Frey Nature biotechnology 36 (9), 829-838, 2018 | 551 | 2018 |
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing Y Jiang, RKC Yuen, X Jin, M Wang, N Chen, X Wu, J Ju, J Mei, Y Shi, ... The American Journal of Human Genetics 93 (2), 249-263, 2013 | 541 | 2013 |
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test AC Lionel, G Costain, N Monfared, S Walker, MS Reuter, SM Hosseini, ... Genetics in Medicine 20 (4), 435-443, 2018 | 531 | 2018 |
Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder K Tammimies, CR Marshall, S Walker, G Kaur, B Thiruvahindrapuram, ... Jama 314 (9), 895-903, 2015 | 430 | 2015 |
Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers A Shlien, BB Campbell, R De Borja, LB Alexandrov, D Merico, D Wedge, ... Nature genetics 47 (3), 257-262, 2015 | 378 | 2015 |
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine DJ Stavropoulos, D Merico, R Jobling, S Bowdin, N Monfared, ... NPJ genomic medicine 1 (1), 1-9, 2016 | 374 | 2016 |
BRAF Mutation and CDKN2A Deletion Define a Clinically Distinct Subgroup of Childhood Secondary High-Grade Glioma M Mistry, N Zhukova, D Merico, P Rakopoulos, R Krishnatry, M Shago, ... Journal of clinical oncology 33 (9), 1015-1022, 2015 | 292 | 2015 |
Genome-wide characteristics of de novo mutations in autism RKC Yuen, D Merico, H Cao, G Pellecchia, B Alipanahi, ... NPJ genomic medicine 1 (1), 1-10, 2016 | 237 | 2016 |
A discovery resource of rare copy number variations in individuals with autism spectrum disorder A Prasad, D Merico, B Thiruvahindrapuram, J Wei, AC Lionel, D Sato, ... G3: Genes| Genomes| Genetics 2 (12), 1665-1685, 2012 | 217 | 2012 |
Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways CK Silversides, AC Lionel, G Costain, D Merico, O Migita, B Liu, T Yuen, ... Public Library of Science 8 (8), e1002843, 2012 | 197 | 2012 |