Artigos com autorizações de acesso público - Evan EichlerSaiba mais
GeralNIHHHMIWellcomeEuropean CommissionNSFCMRCNHMRCDFGNSFZonMwCIHRGovernment of SpainFWONWOSNSFGenome CanadaNIHRGovernment of ItalyBMBFEMBLAutism Speaks Inc, USASwedish Research CouncilCZIHFSPBBSRCANRFWFFRQSBHFCancer Research UKCASINSERMDoDCCSNSERCDFFTelethonTUBITAKDamon Runyon Cancer Research FoundationAutism Science Foundation, USADOEGatesVAUSDAGBMFAHAARCBanking Foundation "la Caixa"Academy of FinlandOTKASFICSIRKnut and Alice Wallenberg FoundationMarianne and Marcus Wallenberg FoundationDMTParkinson's UKRCNDoris Duke Charitable FoundationState of CalifoniaKNAWPCORIMichael J Fox FoundationASAPWWTFCarlsberg Foundation DKOICR
4 artigos não disponíveis publicamente
The association of self-blame with treatment preferences in a multi-country cohort of advanced cancer patients from the APPROACH study
B Doble, E Lau, C Malhotra, S Ozdemir, I Teo, EA Finkelstein, ...
Journal of Psychosomatic Research 139, 110284, 2020
Autorizações: US National Institutes of Health
The role of copy number variants in the genetic architecture of common familial epilepsies
Epi4K Consortium, EP Almanza Fuerte, J Nguyen, M Mehaffey, A Sulovari, ...
Epilepsia 65 (3), 792-804, 2024
Autorizações: Howard Hughes Medical Institute
Long-Read Sequencing Resolves Complex Structural Variants and Identifies Missing Disease-Causing Variants in Unsolved Cases of Hemophilia
DE Miller, M Galey, SN Fletcher, K Lannert, MM Wheeler, ...
Blood 140 (Supplement 1), 10716-10717, 2022
Autorizações: US National Institutes of Health
Unpacking The Autism Spectrum Disorder Profile of Children With De Novo Disruptive GRIN2B Variants: A Quantitative and Qualitative Analysis
CM Hudac, E Kurtz-Nelson, TM Rutter, JL Peterson, K Hoekzema, ...
Autorizações: US National Institutes of Health
468 artigos disponíveis publicamente
A global reference for human genetic variation
1000 Genomes Project Consortium
Nature 526 (7571), 68, 2015
Autorizações: US National Institutes of Health, Howard Hughes Medical Institute, Canadian …
Finding the missing heritability of complex diseases
TA Manolio, FS Collins, NJ Cox, DB Goldstein, LA Hindorff, DJ Hunter, ...
Nature 461 (7265), 747-753, 2009
Autorizações: US National Institutes of Health
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
Autorizações: Swiss National Science Foundation, US National Institutes of Health, Howard …
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
Autorizações: US National Institutes of Health, Howard Hughes Medical Institute, British …
A draft sequence of the Neandertal genome
RE Green, J Krause, AW Briggs, T Maricic, U Stenzel, M Kircher, ...
science 328 (5979), 710-722, 2010
Autorizações: US National Institutes of Health, Howard Hughes Medical Institute
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
AE Renton, E Majounie, A Waite, J Simón-Sánchez, S Rollinson, ...
Neuron 72 (2), 257-268, 2011
Autorizações: US National Institutes of Health, German Research Foundation
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
DT Miller, MP Adam, S Aradhya, LG Biesecker, AR Brothman, NP Carter, ...
The American Journal of Human Genetics 86 (5), 749-764, 2010
Autorizações: US National Institutes of Health, Howard Hughes Medical Institute
Targeted capture and massively parallel sequencing of 12 human exomes
SB Ng, EH Turner, PD Robertson, SD Flygare, AW Bigham, C Lee, ...
Nature 461 (7261), 272-276, 2009
Autorizações: US National Institutes of Health, Howard Hughes Medical Institute
The contribution of de novo coding mutations to autism spectrum disorder
I Iossifov, BJ O’roak, SJ Sanders, M Ronemus, N Krumm, D Levy, ...
Nature 515 (7526), 216-221, 2014
Autorizações: US National Institutes of Health, Howard Hughes Medical Institute, Canadian …
An integrated map of structural variation in 2,504 human genomes
PH Sudmant, T Rausch, EJ Gardner, RE Handsaker, A Abyzov, ...
Nature 526 (7571), 75-81, 2015
Autorizações: US National Institutes of Health, German Research Foundation, European …
The complete genome sequence of a Neanderthal from the Altai Mountains
K Prüfer, F Racimo, N Patterson, F Jay, S Sankararaman, S Sawyer, ...
Nature 505 (7481), 43-49, 2014
Autorizações: US National Institutes of Health, Howard Hughes Medical Institute
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
BJ O’Roak, L Vives, S Girirajan, E Karakoc, N Krumm, BP Coe, R Levy, ...
Nature 485 (7397), 246-250, 2012
Autorizações: US National Institutes of Health, Howard Hughes Medical Institute
The complete sequence of a human genome
S Nurk, S Koren, A Rhie, M Rautiainen, AV Bzikadze, A Mikheenko, ...
Science 376 (6588), 44-53, 2022
Autorizações: US National Science Foundation, Swiss National Science Foundation, US …
Genetic history of an archaic hominin group from Denisova Cave in Siberia
D Reich, RE Green, M Kircher, J Krause, N Patterson, EY Durand, B Viola, ...
Nature 468 (7327), 1053-1060, 2010
Autorizações: US National Institutes of Health
A high-coverage genome sequence from an archaic Denisovan individual
M Meyer, M Kircher, MT Gansauge, H Li, F Racimo, S Mallick, ...
Science 338 (6104), 222-226, 2012
Autorizações: US National Institutes of Health, Howard Hughes Medical Institute
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
T Walsh, JM McClellan, SE McCarthy, AM Addington, SB Pierce, ...
science 320 (5875), 539-543, 2008
Autorizações: US National Institutes of Health, Howard Hughes Medical Institute
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