Detalhe da pesquisa
1.
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
2.
An expectation-maximization framework for comprehensive prediction of isoform-specific functions.
Bioinformatics
; 39(4)2023 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36929917
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.
The Human Phenotype Ontology in 2021.
Nucleic Acids Res
; 49(D1): D1207-D1217, 2021 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33264411
5.
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
Am J Med Genet C Semin Med Genet
; 190(2): 231-242, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35872606
6.
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Genet Med
; 24(5): 986-998, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35101336
7.
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
em Inglês
| MEDLINE | ID: mdl-31701156
8.
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
9.
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
10.
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Genet Med
; 24(9): 1991, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36063163
11.
Node-degree aware edge sampling mitigates inflated classification performance in biomedical random walk-based graph representation learning.
Bioinform Adv
; 4(1): vbae036, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38577542
12.
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery.
medRxiv
; 2024 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38854034
13.
Cinnamides as selective small-molecule inhibitors of a cellular model of breast cancer stem cells.
Bioorg Med Chem Lett
; 23(6): 1834-8, 2013 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23403082
14.
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
em Inglês
| MEDLINE | ID: mdl-37684057
15.
Phenopacket-tools: Building and validating GA4GH Phenopackets.
PLoS One
; 18(5): e0285433, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37196000
16.
The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease.
medRxiv
; 2023 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37503136
17.
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
em Inglês
| MEDLINE | ID: mdl-37963467
18.
Identification of a selective small molecule inhibitor of breast cancer stem cells.
Bioorg Med Chem Lett
; 22(10): 3571-4, 2012 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22503247
19.
Identification and validation of novel spinophilin-associated proteins in rodent striatum using an enhanced ex vivo shotgun proteomics approach.
Mol Cell Proteomics
; 9(6): 1243-59, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20124353
20.
A community effort for COVID-19 Ontology Harmonization.
CEUR Workshop Proc
; 3073: 122-127, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-37324543