Detalhe da pesquisa
1.
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Am J Hum Genet
; 109(12): 2163-2177, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36413997
2.
Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis.
Am J Hum Genet
; 109(10): 1894-1908, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36206743
3.
Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients.
Am J Respir Crit Care Med
; 207(10): 1324-1333, 2023 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36921087
4.
Prioritizing de novo autism risk variants with calibrated gene- and variant-scoring models.
Hum Genet
; 141(10): 1595-1613, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34549350
5.
Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome.
PLoS Comput Biol
; 15(6): e1007112, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31199787
6.
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
7.
Predicting venous thromboembolism risk from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges.
Hum Mutat
; 40(9): 1314-1320, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31140652
8.
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.
Hum Mutat
; 40(9): 1546-1556, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31294896
9.
When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants.
Bioinformatics
; 33(14): i389-i398, 2017 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28882004
10.
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
11.
The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease.
PLoS Comput Biol
; 12(8): e1005091, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27564311
12.
The clinical utility of sequencing the entirety of CFTR.
J Cyst Fibros
; 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38734509
13.
Association of Genetic Predisposition and Physical Activity With Risk of Gestational Diabetes in Nulliparous Women.
JAMA Netw Open
; 5(8): e2229158, 2022 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36040739
14.
Integrated Informatics Analysis of Cancer-Related Variants.
JCO Clin Cancer Inform
; 4: 310-317, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32228266
15.
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2.
Nat Commun
; 11(1): 5918, 2020 11 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33219223
16.
High-Throughput Prediction of MHC Class I and II Neoantigens with MHCnuggets.
Cancer Immunol Res
; 8(3): 396-408, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31871119
17.
The sequencing and interpretation of the genome obtained from a Serbian individual.
PLoS One
; 13(12): e0208901, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30566479