Detalhe da pesquisa
1.
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios.
Cell
; 185(18): 3426-3440.e19, 2022 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36055201
2.
Discovering comorbid diseases using an inter-disease interactivity network based on biobank-scale PheWAS data.
Bioinformatics
; 39(1)2023 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36571484
3.
Human-Disease Phenotype Map Derived from PheWAS across 38,682 Individuals.
Am J Hum Genet
; 104(1): 55-64, 2019 01 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30598166
4.
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
Hum Genomics
; 15(1): 44, 2021 07 13.
Artigo
Inglês
| MEDLINE | ID: mdl-34256850
5.
Novel features and enhancements in BioBin, a tool for the biologically inspired binning and association analysis of rare variants.
Bioinformatics
; 34(3): 527-529, 2018 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28968757
6.
Trisomy 21-associated defects in human primitive hematopoiesis revealed through induced pluripotent stem cells.
Proc Natl Acad Sci U S A
; 109(43): 17573-8, 2012 Oct 23.
Artigo
Inglês
| MEDLINE | ID: mdl-23045704
7.
Microtubule guidance tested through controlled cell geometry.
J Cell Sci
; 125(Pt 23): 5790-9, 2012 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-22992457
8.
DETECT: Feature extraction method for disease trajectory modeling in electronic health records.
AMIA Jt Summits Transl Sci Proc
; 2023: 487-496, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37350926
9.
Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes.
Nat Neurosci
; 26(1): 150-162, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36482247
10.
Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19.
iScience
; 25(2): 103760, 2022 Feb 18.
Artigo
Inglês
| MEDLINE | ID: mdl-35036860
11.
Benchmarking challenging small variants with linked and long reads.
Cell Genom
; 2(5)2022 May.
Artigo
Inglês
| MEDLINE | ID: mdl-36452119
12.
Recent ultra-rare inherited variants implicate new autism candidate risk genes.
Nat Genet
; 53(8): 1125-1134, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34312540
13.
Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study.
Nat Biotechnol
; 39(9): 1129-1140, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34504351
14.
Haplotype-resolved diverse human genomes and integrated analysis of structural variation.
Science
; 372(6537)2021 04 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33632895
15.
PATTERNS IN BIOMEDICAL DATA-HOW DO WE FIND THEM?
Pac Symp Biocomput
; 22: 177-183, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-27896973
16.
Author Correction: Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study.
Nat Biotechnol
; 39(11): 1466, 2021 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-34635840
17.
Pluripotent stem cells reveal erythroid-specific activities of the GATA1 N-terminus.
J Clin Invest
; 125(3): 993-1005, 2015 Mar 02.
Artigo
Inglês
| MEDLINE | ID: mdl-25621499
18.
Stem cell membrane engineering for cell rolling using peptide conjugation and tuning of cell-selectin interaction kinetics.
Biomaterials
; 33(20): 5004-12, 2012 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-22494889
19.
An encyclopedia of mouse DNA elements (Mouse ENCODE).
Genome Biol
; 13(8): 418, 2012 Aug 13.
Artigo
Inglês
| MEDLINE | ID: mdl-22889292