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.
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Hum Genomics
; 18(1): 44, 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38685113
3.
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
4.
Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases.
Brief Bioinform
; 23(5)2022 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35595299
5.
Improving prenatal diagnosis through standards and aggregation.
Prenat Diagn
; 44(4): 454-464, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38242839
6.
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
7.
Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease.
Hum Mutat
; 43(8): 1071-1081, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35391505
8.
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Hum Mutat
; 43(6): 717-733, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35178824
9.
The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice.
Genet Med
; 24(7): 1512-1522, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35442193
10.
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
11.
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
12.
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
13.
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
14.
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
15.
matchbox: An open-source tool for patient matching via the Matchmaker Exchange.
Hum Mutat
; 39(12): 1827-1834, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30240502
16.
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.
Bioinformatics
; 33(15): 2421-2423, 2017 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334266
17.
The Catalytic Site Atlas 2.0: cataloging catalytic sites and residues identified in enzymes.
Nucleic Acids Res
; 42(Database issue): D485-9, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24319146
18.
A mouse informatics platform for phenotypic and translational discovery.
Mamm Genome
; 26(9-10): 413-21, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26314589
19.
Phenopacket-tools: Building and validating GA4GH Phenopackets.
PLoS One
; 18(5): e0285433, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37196000
20.
GA4GH Phenopackets: A Practical Introduction.
Adv Genet (Hoboken)
; 4(1): 2200016, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36910590