Detalhe da pesquisa
1.
The Human Phenotype Ontology in 2024: phenotypes around the world.
Nucleic Acids Res
; 52(D1): D1333-D1346, 2024 Jan 05.
Artigo
Inglês
| MEDLINE | ID: mdl-37953324
2.
Interpretable prioritization of splice variants in diagnostic next-generation sequencing.
Am J Hum Genet
; 108(9): 1564-1577, 2021 09 02.
Artigo
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
Inglês
| MEDLINE | ID: mdl-32755546
4.
The Human Phenotype Ontology in 2021.
Nucleic Acids Res
; 49(D1): D1207-D1217, 2021 01 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33264411
5.
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species.
Nucleic Acids Res
; 48(D1): D704-D715, 2020 01 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31701156
6.
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Nucleic Acids Res
; 47(D1): D1018-D1027, 2019 01 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30476213
7.
Interpretable prioritization of splice variants in diagnostic next-generation sequencing.
Am J Hum Genet
; 108(11): 2205, 2021 Nov 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34739835
8.
shinyGEO: a web-based application for analyzing gene expression omnibus datasets.
Bioinformatics
; 32(23): 3679-3681, 2016 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27503226
9.
De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy.
Cold Spring Harb Mol Case Stud
; 9(4)2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37684057
10.
GA4GH Phenopackets: A Practical Introduction.
Adv Genet (Hoboken)
; 4(1): 2200016, 2023 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-36910590
11.
Generalisable long COVID subtypes: findings from the NIH N3C and RECOVER programmes.
EBioMedicine
; 87: 104413, 2023 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-36563487
12.
The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease.
Med
; 4(12): 913-927.e3, 2023 Dec 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37963467
13.
The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease.
medRxiv
; 2023 Jul 13.
Artigo
Inglês
| MEDLINE | ID: mdl-37503136
14.
Cost-effectiveness analysis of carbetocin versus oxytocin for the prevention of postpartum hemorrhage following vaginal birth in the United Kingdom.
J Med Econ
; 25(1): 129-137, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35007465
15.
Metformin is associated with reduced COVID-19 severity in patients with prediabetes.
Diabetes Res Clin Pract
; 194: 110157, 2022 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-36400170
16.
Metformin is Associated with Reduced COVID-19 Severity in Patients with Prediabetes.
medRxiv
; 2022 Aug 30.
Artigo
Inglês
| MEDLINE | ID: mdl-36093353
17.
Generalizable Long COVID Subtypes: Findings from the NIH N3C and RECOVER Programs.
medRxiv
; 2022 Jul 20.
Artigo
Inglês
| MEDLINE | ID: mdl-35665012
18.
Computational Processing and Quality Control of Hi-C, Capture Hi-C and Capture-C Data.
Genes (Basel)
; 10(7)2019 07 18.
Artigo
Inglês
| MEDLINE | ID: mdl-31323892
19.
Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.
Curr Protoc Hum Genet
; 103(1): e92, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31479590
20.
The GA4GH Phenopacket schema defines a computable representation of clinical data.
Nat Biotechnol
; 40(6): 817-820, 2022 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-35705716