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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
20712010
Origins and functional impact of copy number variation in the human genome
DF Conrad, D Pinto, R Redon, L Feuk, O Gokcumen, Y Zhang, J Aerts, ...
Nature 464 (7289), 704-712, 2010
20562010
Structural variation of chromosomes in autism spectrum disorder
CR Marshall, A Noor, JB Vincent, AC Lionel, L Feuk, J Skaug, M Shago, ...
The American Journal of Human Genetics 82 (2), 477-488, 2008
19432008
Analysis of shared heritability in common disorders of the brain
Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ...
Science 360 (6395), eaap8757, 2018
9132018
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
8902014
Genome-wide association study of copy number variation in 16,000 cases of eight common diseases and 3,000 shared controls
Wellcome Trust Case Control Consortium
Nature 464 (7289), 713, 2010
8662010
Gene expression elucidates functional impact of polygenic risk for schizophrenia
M Fromer, P Roussos, SK Sieberts, JS Johnson, DH Kavanagh, ...
Nature neuroscience 19 (11), 1442-1453, 2016
7872016
A genome-wide linkage and association scan reveals novel loci for autism
LA Weiss, DE Arking
Nature 461 (7265), 802-808, 2009
6942009
Contribution of SHANK3 mutations to autism spectrum disorder
R Moessner, CR Marshall, JS Sutcliffe, J Skaug, D Pinto, J Vincent, ...
The American Journal of Human Genetics 81 (6), 1289-1297, 2007
6692007
A genome-wide scan for common alleles affecting risk for autism
R Anney, L Klei, D Pinto, R Regan, J Conroy, TR Magalhaes, C Correia, ...
Human molecular genetics 19 (20), 4072-4082, 2010
6402010
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
CR Marshall, DP Howrigan, D Merico, B Thiruvahindrapuram, W Wu, ...
Nature genetics 49 (1), 27-35, 2017
5872017
Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder
MJ Gandal, P Zhang, E Hadjimichael, RL Walker, C Chen, S Liu, H Won, ...
Science 362 (6420), eaat8127, 2018
5802018
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
S Berkel, CR Marshall, B Weiss, J Howe, R Roeth, U Moog, V Endris, ...
Nature genetics 42 (6), 489-491, 2010
5582010
Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan data
A Bigham, M Bauchet, D Pinto, X Mao, JM Akey, R Mei, SW Scherer, ...
PLoS genetics 6 (9), e1001116, 2010
5532010
Genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders
PH Lee, V Anttila, H Won, YCA Feng, J Rosenthal, Z Zhu, EM Tucker-Drob, ...
Cell 179 (7), 1469-1482. e11, 2019
5452019
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
CS Leblond, C Nava, A Polge, J Gauthier, G Huguet, S Lumbroso, ...
PLoS genetics 10 (9), e1004580, 2014
4562014
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
D Pinto, K Darvishi, X Shi, D Rajan, D Rigler, T Fitzgerald, AC Lionel, ...
Nature biotechnology 29 (6), 512-520, 2011
4382011
Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
HJ Watson, Z Yilmaz, LM Thornton, C Hbel, JRI Coleman, HA Gaspar, ...
Nature genetics 51 (8), 1207-1214, 2019
4312019
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
CS Leblond, J Heinrich, R Delorme, C Proepper, C Betancur, G Huguet, ...
PLoS genetics 8 (2), e1002521, 2012
4202012
Individual common variants exert weak effects on the risk for autism spectrum disorders
R Anney, L Klei, D Pinto, J Almeida, E Bacchelli, G Baird, N Bolshakova, ...
Human molecular genetics 21 (21), 4781-4792, 2012
3912012
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