Artigos com autorizações de acesso público - Evan EichlerSaiba mais
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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