Detalhe da pesquisa
1.
Gene-level association analysis of bivariate ordinal traits with functional regressions.
Genet Epidemiol
; 47(6): 409-431, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37101379
2.
Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia.
Hum Mol Genet
; 31(11): 1909-1919, 2022 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35022715
3.
Genome-wide interaction analysis identified low-frequency variants with sex disparity in lung cancer risk.
Hum Mol Genet
; 31(16): 2831-2843, 2022 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35138370
4.
Transmission disequilibrium analysis of whole genome data in childhood-onset systemic lupus erythematosus.
Genes Immun
; 24(4): 200-206, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37488248
5.
Gene-level association analysis of ordinal traits with functional ordinal logistic regressions.
Genet Epidemiol
; 46(5-6): 234-255, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35438198
6.
A rare FGF5 candidate variant (rs112475347) for predisposition to nonsquamous, nonsmall-cell lung cancer.
Int J Cancer
; 153(2): 364-372, 2023 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36916144
7.
Gene-based analysis of bi-variate survival traits via functional regressions with applications to eye diseases.
Genet Epidemiol
; 45(5): 455-470, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33645812
8.
What makes a good prediction? Feature importance and beginning to open the black box of machine learning in genetics.
Hum Genet
; 141(9): 1515-1528, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34862561
9.
Complex N-Linked Glycosylation: A Potential Modifier of Niemann-Pick Disease, Type C1 Pathology.
Int J Mol Sci
; 23(9)2022 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35563467
10.
A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1.
PLoS Genet
; 14(8): e1007532, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30102696
11.
ComPaSS-GWAS: A method to reduce type I error in genome-wide association studies when replication data are not available.
Genet Epidemiol
; 43(1): 102-111, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30334581
12.
Gene-based association analysis of survival traits via functional regression-based mixed effect cox models for related samples.
Genet Epidemiol
; 43(8): 952-965, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31502722
13.
Inferring disease risk genes from sequencing data in multiplex pedigrees through sharing of rare variants.
Genet Epidemiol
; 43(1): 37-49, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30246882
14.
Linear mixed models for association analysis of quantitative traits with next-generation sequencing data.
Genet Epidemiol
; 43(2): 189-206, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30537345
15.
The FUT2 secretor variant p.Trp154Ter influences serum vitamin B12 concentration via holo-haptocorrin, but not holo-transcobalamin, and is associated with haptocorrin glycosylation.
Hum Mol Genet
; 26(24): 4975-4988, 2017 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29040465
16.
Genome-wide scans of myopia in Pennsylvania Amish families reveal significant linkage to 12q15, 8q21.3 and 5p15.33.
Hum Genet
; 138(4): 339-354, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30826882
17.
A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin.
Am J Hum Genet
; 98(5): 869-882, 2016 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27132595
18.
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
Am J Hum Genet
; 99(4): 877-885, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27666373
19.
Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families.
BMC Med Genet
; 20(1): 27, 2019 01 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-30704416
20.
Genome-wide association study of familial lung cancer.
Carcinogenesis
; 39(9): 1135-1140, 2018 09 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-29924316