Detalhe da pesquisa
1.
MecCog: a knowledge representation framework for genetic disease mechanism.
Bioinformatics
; 37(22): 4180-4186, 2021 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34117883
2.
Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype-weighted knowledge in the CAGI SickKids5 clinical genomes challenge.
Hum Mutat
; 41(2): 347-362, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31680375
3.
Assessment of methods for predicting the effects of PTEN and TPMT protein variants.
Hum Mutat
; 40(9): 1495-1506, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31184403
4.
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge.
Hum Mutat
; 40(9): 1330-1345, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31144778
5.
Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016.
Hum Mutat
; 40(9): 1519-1529, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31342580
6.
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.
Hum Mutat
; 40(9): 1373-1391, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31322791
7.
Harnessing formal concepts of biological mechanism to analyze human disease.
PLoS Comput Biol
; 14(12): e1006540, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30586388
8.
Ensemble variant interpretation methods to predict enzyme activity and assign pathogenicity in the CAGI4 NAGLU (Human N-acetyl-glucosaminidase) and UBE2I (Human SUMO-ligase) challenges.
Hum Mutat
; 38(9): 1109-1122, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28544272
9.
CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants.
Hum Mutat
; 38(9): 1169-1181, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28512736
10.
CAGI4 Crohn's exome challenge: Marker SNP versus exome variant models for assigning risk of Crohn disease.
Hum Mutat
; 38(9): 1225-1234, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28512778
11.
Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge.
Hum Mutat
; 38(9): 1201-1216, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28497567
12.
Lessons from the CAGI-4 Hopkins clinical panel challenge.
Hum Mutat
; 38(9): 1155-1168, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28397312
13.
Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges.
Hum Mutat
; 38(9): 1182-1192, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28634997
14.
Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs).
J Clin Immunol
; 35(2): 227-33, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25677497
15.
Intratumoral dendritic cell-CD4+ T helper cell niches enable CD8+ T cell differentiation following PD-1 blockade in hepatocellular carcinoma.
Nat Med
; 29(6): 1389-1399, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37322116
16.
The role of exome sequencing in newborn screening for inborn errors of metabolism.
Nat Med
; 26(9): 1392-1397, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32778825