Detalhe da pesquisa
1.
Insurance denials and diagnostic rates in a pediatric genomic research cohort.
Genet Med
; 25(5): 100020, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36718845
2.
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Genet Med
; 24(6): 1336-1348, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35305867
3.
Pangenome graphs improve the analysis of structural variants in rare genetic diseases.
Nat Commun
; 15(1): 657, 2024 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38253606
4.
Characterization and visualization of tandem repeats at genome scale.
Nat Biotechnol
; 2024 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38168995
5.
Adverse Maternal Environments Perturb Hepatic DNA Methylome and Transcriptome Prior to the Adult-Onset Non-Alcoholic Fatty Liver Disease in Mouse Offspring.
Nutrients
; 15(9)2023 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37432267
6.
Extravillous trophoblast cell lineage development is associated with active remodeling of the chromatin landscape.
Nat Commun
; 14(1): 4826, 2023 08 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37563143
7.
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.
Nat Commun
; 14(1): 3090, 2023 05 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37248219
8.
Quantitative biomedical annotation using medical subject heading over-representation profiles (MeSHOPs).
BMC Bioinformatics
; 13: 249, 2012 Sep 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-23017167
9.
Immune cell residency in the nasal mucosa may partially explain respiratory disease severity across the age range.
Sci Rep
; 11(1): 15927, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34354210
10.
Single-cell analysis of human adipose tissue identifies depot and disease specific cell types.
Nat Metab
; 2(1): 97-109, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32066997
11.
Dissecting features of epigenetic variants underlying cardiometabolic risk using full-resolution epigenome profiling in regulatory elements.
Nat Commun
; 10(1): 1209, 2019 03 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30872577
12.
H3K27M induces defective chromatin spread of PRC2-mediated repressive H3K27me2/me3 and is essential for glioma tumorigenesis.
Nat Commun
; 10(1): 1262, 2019 03 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-30890717
13.
Correction to: Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome.
Genome Biol
; 20(1): 89, 2019 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31064398
14.
Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome.
Genome Biol
; 18(1): 50, 2017 03 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28283040
15.
Increased DNA methylation variability in type 1 diabetes across three immune effector cell types.
Nat Commun
; 7: 13555, 2016 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27898055
16.
Risk of re-identification of epigenetic methylation data: a more nuanced response is needed.
Clin Epigenetics
; 7: 45, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25904991
17.
Asthma-associated polymorphisms in 17q12-21 locus modulate methylation and gene expression of GSDMA in naïve CD4+ T cells.
J Genet Genomics
; 47(3): 171-174, 2020 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32312674
18.
Epigenome data release: a participant-centered approach to privacy protection.
Genome Biol
; 16: 142, 2015 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26185018
19.
Population whole-genome bisulfite sequencing across two tissues highlights the environment as the principal source of human methylome variation.
Genome Biol
; 16: 290, 2015 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-26699896
20.
Compensating for literature annotation bias when predicting novel drug-disease relationships through Medical Subject Heading Over-representation Profile (MeSHOP) similarity.
BMC Med Genomics
; 6 Suppl 2: S3, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23819887