Các bài viết có thể truy cập công khai - Evan EichlerTìm hiểu thêm
Không có ở bất kỳ nơi nào: 5
Đánh giá
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
Các cơ quan ủy nhiệm: US National Institutes of Health
Đánh giá
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
Các cơ quan ủy nhiệm: US National Institutes of Health, Howard Hughes Medical Institute
Đánh giá
Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies
L Micale, A Vourlia, C Fusco, R Pracella, DC Karagiannis, G Nardella, ...
European Journal of Human Genetics, 1-9, 2024
Các cơ quan ủy nhiệm: European Commission
Đánh giá
GAVISUNK
PC Dishuck, AN Rozanski, GA Logsdon, D Porubsky, EE Eichler
Bioinformatics 39 (1), 2023
Các cơ quan ủy nhiệm: US National Institutes of Health, Howard Hughes Medical Institute
Đánh giá
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
Các cơ quan ủy nhiệm: US National Institutes of Health
Có tại một số nơi: 480
Đánh giá
A global reference for human genetic variation
1000 Genomes Project Consortium
Nature 526 (7571), 68, 2015
Các cơ quan ủy nhiệm: Swiss National Science Foundation, US National Institutes of Health, Howard …
Đánh giá
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
Các cơ quan ủy nhiệm: US National Institutes of Health
Đánh giá
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
Các cơ quan ủy nhiệm: Swiss National Science Foundation, US National Institutes of Health, Howard …
Đánh giá
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
Các cơ quan ủy nhiệm: US National Institutes of Health, Howard Hughes Medical Institute, British …
Đánh giá
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
Các cơ quan ủy nhiệm: US National Institutes of Health, Howard Hughes Medical Institute
Đánh giá
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
Các cơ quan ủy nhiệm: US National Institutes of Health, German Research Foundation
Đánh giá
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
Các cơ quan ủy nhiệm: US National Institutes of Health, Howard Hughes Medical Institute
Đánh giá
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
Các cơ quan ủy nhiệm: US National Institutes of Health, Howard Hughes Medical Institute, Canadian …
Đánh giá
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
Các cơ quan ủy nhiệm: US National Institutes of Health, Howard Hughes Medical Institute
Đánh giá
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
Các cơ quan ủy nhiệm: US National Science Foundation, Swiss National Science Foundation, US …
Đánh giá
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
Các cơ quan ủy nhiệm: US National Institutes of Health, German Research Foundation, European …
Đánh giá
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
Các cơ quan ủy nhiệm: US National Institutes of Health, Howard Hughes Medical Institute
Đánh giá
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
Các cơ quan ủy nhiệm: US National Institutes of Health, Howard Hughes Medical Institute
Đánh giá
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
Các cơ quan ủy nhiệm: US National Institutes of Health
Đánh giá
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
Các cơ quan ủy nhiệm: US National Institutes of Health, Howard Hughes Medical Institute
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