Detalhe da pesquisa
1.
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.
Cell
; 169(1): 6-12, 2017 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28340351
2.
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
3.
Phenotype-aware prioritisation of rare Mendelian disease variants.
Trends Genet
; 38(12): 1271-1283, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35934592
4.
Structured Prompt Interrogation and Recursive Extraction of Semantics (SPIRES): a method for populating knowledge bases using zero-shot learning.
Bioinformatics
; 40(3)2024 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38383067
5.
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Blood
; 142(24): 2055-2068, 2023 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37647632
6.
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
7.
Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases.
Brief Bioinform
; 23(5)2022 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35595299
8.
Term-BLAST-like alignment tool for concept recognition in noisy clinical texts.
Bioinformatics
; 39(12)2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38001031
9.
An expectation-maximization framework for comprehensive prediction of isoform-specific functions.
Bioinformatics
; 39(4)2023 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36929917
10.
KG-Hub-building and exchanging biological knowledge graphs.
Bioinformatics
; 39(7)2023 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37389415
11.
Lethal phenotypes in Mendelian disorders.
Genet Med
; : 101141, 2024 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38629401
12.
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.
Genet Med
; 26(2): 101029, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37982373
13.
Improving prenatal diagnosis through standards and aggregation.
Prenat Diagn
; 44(4): 454-464, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38242839
14.
FABIAN-variant: predicting the effects of DNA variants on transcription factor binding.
Nucleic Acids Res
; 50(W1): W322-W329, 2022 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35639768
15.
Deep phenotyping: symptom annotation made simple with SAMS.
Nucleic Acids Res
; 50(W1): W677-W681, 2022 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35524573
16.
A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions.
Proc Natl Acad Sci U S A
; 118(2)2021 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33402532
17.
An evaluation of GPT models for phenotype concept recognition.
BMC Med Inform Decis Mak
; 24(1): 30, 2024 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38297371
18.
Inherited deletion of 9p22.3-p24.3 and duplication of 18p11.31-p11.32 associated with neurodevelopmental delay: Phenotypic matching of involved genes.
J Cell Mol Med
; 27(4): 496-505, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36691971
19.
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.
Am J Med Genet C Semin Med Genet
; 193(3): e32056, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37654076
20.
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