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
em Inglês
| MEDLINE | ID: mdl-36055201
2.
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
Am J Hum Genet
; 110(9): 1454-1469, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37595579
3.
A structural variation reference for medical and population genetics.
Nature
; 581(7809): 444-451, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32461652
4.
De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families.
Am J Hum Genet
; 108(4): 597-607, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33675682
5.
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies.
Am J Hum Genet
; 108(5): 919-928, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33789087
6.
Genome-Wide Analysis of Structural Variants in Parkinson Disease.
Ann Neurol
; 93(5): 1012-1022, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36695634
7.
Enhancement of norfloxacin degradation by citrate in S-nZVI@Ps system: Chelation and FeS layer.
Environ Res
; 245: 117981, 2024 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38142729
8.
Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting.
Genet Med
; 25(10): 100918, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37330696
9.
Optimization, Probiotic Characteristics, and Rheological Properties of Exopolysaccharides from Lactiplantibacillus plantarum MC5.
Molecules
; 28(6)2023 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36985435
10.
Author Correction: A structural variation reference for medical and population genetics.
Nature
; 590(7846): E55, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33536627
11.
Antibacterial and antioxidant activities of a novel biosynthesized selenium nanoparticles using Rosa roxburghii extract and chitosan: Preparation, characterization, properties, and mechanisms.
Int J Biol Macromol
; 254(Pt 3): 127971, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37944720
12.
A harmonized public resource of deeply sequenced diverse human genomes.
bioRxiv
; 2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36747613
13.
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
medRxiv
; 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585811
14.
Whole genome sequence of Lactiplantibacillus plantarum MC5 and comparative analysis of eps gene clusters.
Front Microbiol
; 14: 1146566, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37200914
15.
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data.
Nat Genet
; 55(9): 1589-1597, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37604963
16.
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.
medRxiv
; 2023 Dec 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38234731
17.
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias.
Cell Genom
; 3(6): 100316, 2023 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37388914
18.
EPS-Producing Lactobacillus plantarum MC5 as a Compound Starter Improves Rheology, Texture, and Antioxidant Activity of Yogurt during Storage
Foods
; 11(11)2022 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35681410
19.
Evaluation of the resistance to Chinese predominant races of Puccinia triticina and analysis of effective leaf rust resistance genes in wheat accessions from the U.S. National Plant Germplasm System.
Front Plant Sci
; 13: 1054673, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36388507
20.
A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene.
Eur J Hum Genet
; 30(9): 1083-1087, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35768521