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Dalila Pinto
Dalila Pinto
Potvrđena adresa e-pošte na mssm.edu
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Citirano
Citirano
Godina
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
22942010
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
22352010
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
21112008
Analysis of shared heritability in common disorders of the brain
Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ...
Science 360 (6395), eaap8757, 2018
13092018
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
10502014
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
10222016
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
9922019
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
9652018
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
Nature 464 (7289), 713-720, 2010
9282010
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
8782017
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
7772007
A genome-wide linkage and association scan reveals novel loci for autism
LA Weiss, DE Arking, ...
Nature 461 (7265), 802-808, 2009
7662009
Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
HJ Watson, Z Yilmaz, LM Thornton, C Hübel, JRI Coleman, HA Gaspar, ...
Nature genetics 51 (8), 1207-1214, 2019
7382019
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
7112010
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
6382010
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
6372010
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
6032014
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
4722011
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
4642012
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
DJ Weiner, EM Wigdor, S Ripke, RK Walters, JA Kosmicki, J Grove, ...
Nature genetics 49 (7), 978-985, 2017
4522017
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