Daniele Merico
Daniele Merico
Deep Genomics Inc.
Geverifieerd e-mailadres voor deepgenomics.com
Titel
Geciteerd door
Geciteerd door
Jaar
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
19172010
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
12882010
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), 2015
8962015
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
7252014
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
5682015
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
4702016
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
4292015
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
4182017
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
4002013
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
RKC Yuen, D Merico, M Bookman, JL Howe, B Thiruvahindrapuram, ...
Nature neuroscience 20 (4), 602-611, 2017
3922017
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
2462015
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
2432015
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
2382019
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
2112016
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
1992018
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, 2015
1762015
Deep learning in biomedicine
M Wainberg, D Merico, A Delong, BJ Frey
Nature biotechnology 36 (9), 829-838, 2018
1582018
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
1502012
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
1492016
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, ...
PLoS genetics 8 (8), e1002843, 2012
1472012
Het systeem kan de bewerking nu niet uitvoeren. Probeer het later opnieuw.
Artikelen 1–20