Detalhe da pesquisa
1.
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Genome Res
; 25(3): 305-15, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25637381
2.
Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder.
Am J Med Genet B Neuropsychiatr Genet
; 174(4): 381-389, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28332277
3.
Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia.
Am J Hum Genet
; 93(6): 1035-45, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24268658
4.
PLTP activity inversely correlates with CAAD: effects of PON1 enzyme activity and genetic variants on PLTP activity.
J Lipid Res
; 56(7): 1351-62, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26009633
5.
Quantification of HDL particle concentration by calibrated ion mobility analysis.
Clin Chem
; 60(11): 1393-401, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25225166
6.
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179.
Nat Genet
; 2024 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38714869
7.
Novel gene-by-environment interactions: APOB and NPC1L1 variants affect the relationship between dietary and total plasma cholesterol.
J Lipid Res
; 54(5): 1512-20, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23482652
8.
Novel common and rare genetic determinants of paraoxonase activity: FTO, SERPINA12, and ITGAL.
J Lipid Res
; 54(2): 552-60, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23160181
9.
Dietary fatty acid intake is associated with paraoxonase 1 activity in a cohort-based analysis of 1,548 subjects.
Lipids Health Dis
; 12: 183, 2013 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-24330840
10.
RNA polymerases reshape chromatin and coordinate transcription on individual fibers.
bioRxiv
; 2023 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38187631
11.
DNA-m6A calling and integrated long-read epigenetic and genetic analysis with fibertools.
bioRxiv
; 2023 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37131601
12.
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.
bioRxiv
; 2023 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36798371
13.
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.
Neurol Genet
; 9(5): e200090, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37560121
14.
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Ann Clin Transl Neurol
; 10(6): 1046-1053, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37194416
15.
Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition.
bioRxiv
; 2023 Sep 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37808736
16.
Dietary cholesterol increases paraoxonase 1 enzyme activity.
J Lipid Res
; 53(11): 2450-8, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22896672
17.
Linkage and association of phospholipid transfer protein activity to LASS4.
J Lipid Res
; 52(10): 1837-46, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21757428
18.
Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.
Lipids Health Dis
; 8: 52, 2009 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19951432
19.
Inflammatory response after influenza vaccination in men with and without carotid artery disease.
Arterioscler Thromb Vasc Biol
; 26(12): 2738-44, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17023683
20.
Effects of dietary components on high-density lipoprotein measures in a cohort of 1,566 participants.
Nutr Metab (Lond)
; 11(1): 44, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25264450