Detalhe da pesquisa
1.
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.
PLoS Genet
; 20(5): e1011230, 2024 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38713708
2.
COSMIC Cancer Gene Census 3D database: understanding the impacts of mutations on cancer targets.
Brief Bioinform
; 22(6)2021 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34137435
3.
SARS-CoV-2 3D database: understanding the coronavirus proteome and evaluating possible drug targets.
Brief Bioinform
; 22(2): 769-780, 2021 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33416848
4.
Sequenceserver: A Modern Graphical User Interface for Custom BLAST Databases.
Mol Biol Evol
; 36(12): 2922-2924, 2019 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31411700
5.
Diagnostic Approaches to Neuroendocrine Neoplasms of Unknown Primary Site.
Neuroendocrinology
; 110(7-8): 563-573, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31658461
6.
Pheno4J: a gene to phenotype graph database.
Bioinformatics
; 33(20): 3317-3319, 2017 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28633344
7.
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
8.
GeneValidator: identify problems with protein-coding gene predictions.
Bioinformatics
; 32(10): 1559-61, 2016 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26787666
9.
Donor whole blood DNA methylation is not a strong predictor of acute graft versus host disease in unrelated donor allogeneic haematopoietic cell transplantation.
Front Genet
; 15: 1242636, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38633407
10.
Pegcetacoplan Treatment and Consensus Features of Geographic Atrophy Over 24 Months.
JAMA Ophthalmol
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38722644
11.
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3000 Inherited Retinal Disease Patients from the United Kingdom.
medRxiv
; 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585957
12.
SynthEye: Investigating the Impact of Synthetic Data on Artificial Intelligence-assisted Gene Diagnosis of Inherited Retinal Disease.
Ophthalmol Sci
; 3(2): 100258, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36685715
13.
Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene).
BMJ Open
; 13(3): e071043, 2023 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36940949
14.
Comparison and imputation-aided integration of five commercial platforms for targeted DNA methylome analysis.
Nat Biotechnol
; 40(10): 1478-1487, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35654977
15.
Personalized Model to Predict Keratoconus Progression From Demographic, Topographic, and Genetic Data.
Am J Ophthalmol
; 240: 321-329, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35469790
16.
Machine Learning Algorithms to Detect Subclinical Keratoconus: Systematic Review.
JMIR Med Inform
; 9(12): e27363, 2021 Dec 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34898463
17.
Echinoderms provide missing link in the evolution of PrRP/sNPF-type neuropeptide signalling.
Elife
; 92020 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32579512
18.
Phenogenon: Gene to phenotype associations for rare genetic diseases.
PLoS One
; 15(4): e0230587, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32271766
19.
Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract.
Genes (Basel)
; 11(5)2020 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32384692
20.
GenomeChronicler: The Personal Genome Project UK Genomic Report Generator Pipeline.
Front Genet
; 11: 518644, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33193602