Detalhe da pesquisa
1.
Exploring the Functional Basis of Epigenetic Aging in Relation to Body Fat Phenotypes in the Norfolk Island Cohort.
Curr Issues Mol Biol
; 45(10): 7862-7877, 2023 Sep 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37886940
2.
A genome-wide methylation study of body fat traits in the Norfolk Island isolate.
Nutr Metab Cardiovasc Dis
; 31(5): 1556-1563, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33810959
3.
Tiered analysis of whole-exome sequencing for epilepsy diagnosis.
Mol Genet Genomics
; 295(3): 751-763, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32146541
4.
Expression QTL analysis of glaucoma endophenotypes in the Norfolk Island isolate provides evidence that immune-related genes are associated with optic disc size.
J Hum Genet
; 63(1): 83-87, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29215094
5.
A Phenomic Scan of the Norfolk Island Genetic Isolate Identifies a Major Pleiotropic Effect Locus Associated with Metabolic and Renal Disorder Markers.
PLoS Genet
; 11(10): e1005593, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26474483
6.
Genome-wide linkage and association analysis of primary open-angle glaucoma endophenotypes in the Norfolk Island isolate.
Mol Vis
; 23: 660-665, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28966548
7.
Mapping eQTLs in the Norfolk Island genetic isolate identifies candidate genes for CVD risk traits.
Am J Hum Genet
; 93(6): 1087-99, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24314549
8.
Common polygenic variation contributes to risk of migraine in the Norfolk Island population.
Hum Genet
; 134(10): 1079-87, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26220684
9.
Protocol for assessing maternal, environmental and epigenetic risk factors for dental caries in children.
BMC Oral Health
; 15: 167, 2015 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-26715445
10.
Clinical application of targeted long read sequencing in prenatal beta-thalassemia testing and genetic counseling.
Mol Genet Genomic Med
; 12(1): e2285, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37740604
11.
Evaluating the suitability of current mitochondrial DNA interpretation guidelines for multigenerational whole mitochondrial genome comparisons.
J Forensic Sci
; 67(5): 1766-1775, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35855536
12.
Multi-phenotype genome-wide association studies of the Norfolk Island isolate implicate pleiotropic loci involved in chronic kidney disease.
Sci Rep
; 11(1): 19425, 2021 09 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34593906
13.
DNA methylation in blood-Potential to provide new insights into cell biology.
PLoS One
; 15(11): e0241367, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33147241
14.
MicroRNA Profiling in Adipose Before and After Weight Loss Highlights the Role of miR-223-3p and the NLRP3 Inflammasome.
Obesity (Silver Spring)
; 28(3): 570-580, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32090515
15.
Genome-wide DNA methylation analysis of heavy cannabis exposure in a New Zealand longitudinal cohort.
Transl Psychiatry
; 10(1): 114, 2020 04 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32321915
16.
Genome-wide allele-specific methylation is enriched at gene regulatory regions in a multi-generation pedigree from the Norfolk Island isolate.
Epigenetics Chromatin
; 12(1): 60, 2019 10 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31594537
17.
Variant Call Format-Diagnostic Annotation and Reporting Tool: A Customizable Analysis Pipeline for Identification of Clinically Relevant Genetic Variants in Next-Generation Sequencing Data.
J Mol Diagn
; 21(6): 951-960, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31442673
18.
Nanopore Sequencing Enables Allelic Phasing of FLG Loss-of-Function Variants, Intragenic Copy Number Variation, and Methylation Status in Atopic Dermatitis and Ichthyosis Vulgaris.
J Invest Dermatol
; 2024 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38336337
19.
Genome-wide DNA methylation changes in CD19+ B cells from relapsing-remitting multiple sclerosis patients.
Sci Rep
; 8(1): 17418, 2018 11 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-30479356
20.
Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes.
Front Genet
; 9: 20, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29467791