Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
Myopia in Chinese families shows linkage to 10q26.13.
Mol Vis
; 24: 29-42, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29383007
9.
Parametric Linkage Analysis Identifies Five Novel Genome-Wide Significant Loci for Familial Lung Cancer.
Hum Hered
; 82(1-2): 64-74, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28817824
10.
Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428.
Sci Rep
; 14(1): 8533, 2024 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38609424
11.
Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape.
Nat Commun
; 14(1): 7436, 2023 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37973980
12.
Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.
Commun Biol
; 6(1): 6, 2023 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36596879
13.
Genome-wide linkage search for cancer susceptibility loci in a cohort of non BRCA1/2 families in Sri Lanka.
BMC Res Notes
; 15(1): 190, 2022 Jun 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35655316
14.
Targeted Sequencing of Candidate Regions Associated with Sagittal and Metopic Nonsyndromic Craniosynostosis.
Genes (Basel)
; 13(5)2022 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35627201
15.
Association analyses of rare variants identify two genes associated with refractive error.
PLoS One
; 17(9): e0272379, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36137074
16.
Myopia in African Americans Is Significantly Linked to Chromosome 7p15.2-14.2.
Invest Ophthalmol Vis Sci
; 62(9): 16, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34241624
17.
Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer.
Cancer Res
; 81(12): 3162-3173, 2021 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33853833
18.
IMI 2021 Yearly Digest.
Invest Ophthalmol Vis Sci
; 62(5): 7, 2021 04 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909031
19.
Whole Exome Sequencing of Highly Aggregated Lung Cancer Families Reveals Linked Loci for Increased Cancer Risk on Chromosomes 12q, 7p, and 4q.
Cancer Epidemiol Biomarkers Prev
; 29(2): 434-442, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31826912
20.
Small posterior fossa in Chiari I malformation affected families is significantly linked to 1q43-44 and 12q23-24.11 using whole exome sequencing.
Eur J Hum Genet
; 27(10): 1599-1610, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31227808