Követés
Evan Eichler
Evan Eichler
Professor of Genome Sciences, University of Washington
E-mail megerősítve itt: gs.washington.edu
Cím
Hivatkozott rá
Hivatkozott rá
Év
Initial sequencing and analysis of the human genome
US DOE Joint Genome Institute: Hawkins Trevor 4 Branscomb Elbert 4 Predki ...
Nature 409 (6822), 860-921, 2001
253122001
A global reference for human genetic variation
1000 Genomes Project Consortium
Nature 526 (7571), 68, 2015
163312015
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
100652009
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
89792010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
85912012
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
52142010
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
49782011
Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data
CS Chin, DH Alexander, P Marks, AA Klammer, J Drake, C Heiner, ...
Nature methods 10 (6), 563-569, 2013
45192013
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
32882010
Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution
Project management: Fulton Lucinda A. 1 Mardis Elaine R. 1 Wilson Richard K. 1
Nature 432 (7018), 695-716, 2004
29652004
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
27672014
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
27372009
Genome sequence of the Brown Norway rat yields insights into mammalian evolution
University of Utah Weiss Robert B. 14 Dunn Diane M. 14, ...
Nature 428 (6982), 493-521, 2004
25942004
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
25772022
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
25592015
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
25142014
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
24852012
Initial sequence of the chimpanzee genome and comparison with the human genome
Chimpanzee Sequencing and Analysis Consortium Waterson Robert H. waterston ...
Nature 437 (7055), 69-87, 2005
24602005
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
23702010
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
22632012
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