Detalhe da pesquisa
1.
The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species.
Nucleic Acids Res
; 52(D1): D938-D949, 2024 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38000386
2.
Interpretable prioritization of splice variants in diagnostic next-generation sequencing.
Am J Hum Genet
; 108(9): 1564-1577, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34289339
3.
Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.
Am J Hum Genet
; 107(3): 403-417, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32755546
4.
Coding long COVID: characterizing a new disease through an ICD-10 lens.
BMC Med
; 21(1): 58, 2023 02 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36793086
5.
The Ontology of Biological Attributes (OBA)-computational traits for the life sciences.
Mamm Genome
; 34(3): 364-378, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37076585
6.
The Human Phenotype Ontology in 2021.
Nucleic Acids Res
; 49(D1): D1207-D1217, 2021 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33264411
7.
Risk factors associated with post-acute sequelae of SARS-CoV-2: an N3C and NIH RECOVER study.
BMC Public Health
; 23(1): 2103, 2023 10 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37880596
8.
NSAID use and clinical outcomes in COVID-19 patients: a 38-center retrospective cohort study.
Virol J
; 19(1): 84, 2022 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35570298
9.
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Nucleic Acids Res
; 47(D1): D1018-D1027, 2019 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30476213
10.
Identifiers for the 21st century: How to design, provision, and reuse persistent identifiers to maximize utility and impact of life science data.
PLoS Biol
; 15(6): e2001414, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28662064
11.
Interpretable prioritization of splice variants in diagnostic next-generation sequencing.
Am J Hum Genet
; 108(11): 2205, 2021 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34739835
12.
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.
Am J Hum Genet
; 99(3): 595-606, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27569544
13.
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species.
Nucleic Acids Res
; 45(D1): D712-D722, 2017 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27899636
14.
The Human Phenotype Ontology in 2017.
Nucleic Acids Res
; 45(D1): D865-D876, 2017 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27899602
15.
UVB Radiation Alone May Not Explain Sunlight Inactivation of SARS-CoV-2.
J Infect Dis
; 223(8): 1500-1502, 2021 04 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33544845
16.
Expression Atlas update--a database of gene and transcript expression from microarray- and sequencing-based functional genomics experiments.
Nucleic Acids Res
; 42(Database issue): D926-32, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24304889
17.
Sharing Clinical and Genomic Data on Cancer - The Need for Global Solutions.
N Engl J Med
; 376(21): 2006-2009, 2017 05 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-28538124
18.
The Environmental Conditions, Treatments, and Exposures Ontology (ECTO): connecting toxicology and exposure to human health and beyond.
J Biomed Semantics
; 14(1): 3, 2023 02 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36823605
19.
The N3C governance ecosystem: A model socio-technical partnership for the future of collaborative analytics at scale.
J Clin Transl Sci
; 7(1): e252, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38229902
20.
Long COVID risk and pre-COVID vaccination in an EHR-based cohort study from the RECOVER program.
Nat Commun
; 14(1): 2914, 2023 05 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37217471