Detalhe da pesquisa
1.
Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters.
Cell
; 167(5): 1369-1384.e19, 2016 11 17.
Artigo
Inglês
| MEDLINE | ID: mdl-27863249
2.
Familial pseudohyperkalemia induces significantly higher levels of extracellular potassium in early storage of red cell concentrates without affecting other standard measures of quality: A case control and allele frequency study.
Transfusion
; 61(8): 2439-2449, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33960432
3.
Distribution and medical impact of loss-of-function variants in the Finnish founder population.
PLoS Genet
; 10(7): e1004494, 2014 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-25078778
4.
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Am J Hum Genet
; 93(4): 607-19, 2013 Oct 03.
Artigo
Inglês
| MEDLINE | ID: mdl-24094742
5.
Intracranial aneurysm risk locus 5q23.2 is associated with elevated systolic blood pressure.
PLoS Genet
; 8(3): e1002563, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22438818
6.
Phenotype mining in CNV carriers from a population cohort.
Hum Mol Genet
; 20(13): 2686-95, 2011 Jul 01.
Artigo
Inglês
| MEDLINE | ID: mdl-21505072
7.
Platelet surface receptor glycoprotein VI-dimer is overexpressed in stroke: The Glycoprotein VI in Stroke (GYPSIE) study results.
PLoS One
; 17(1): e0262695, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35041713
8.
Transcriptional, epigenetic and metabolic signatures in cardiometabolic syndrome defined by extreme phenotypes.
Clin Epigenetics
; 14(1): 39, 2022 03 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35279219
9.
Linkage and linkage disequilibrium scan for autism loci in an extended pedigree from Finland.
Hum Mol Genet
; 18(15): 2912-21, 2009 Aug 01.
Artigo
Inglês
| MEDLINE | ID: mdl-19454485
10.
The genome-wide patterns of variation expose significant substructure in a founder population.
Am J Hum Genet
; 83(6): 787-94, 2008 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-19061986
11.
Allelic variants in HTR3C show association with autism.
Am J Med Genet B Neuropsychiatr Genet
; 150B(5): 741-6, 2009 Jul 05.
Artigo
Inglês
| MEDLINE | ID: mdl-19035560
12.
Identification of common genetic risk variants for autism spectrum disorder.
Nat Genet
; 51(3): 431-444, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30804558
13.
No association between common variants in glyoxalase 1 and autism spectrum disorders.
Am J Med Genet B Neuropsychiatr Genet
; 147B(1): 124-7, 2008 Jan 05.
Artigo
Inglês
| MEDLINE | ID: mdl-17722011
14.
Increased DNA methylation variability in type 1 diabetes across three immune effector cell types.
Nat Commun
; 7: 13555, 2016 11 29.
Artigo
Inglês
| MEDLINE | ID: mdl-27898055
15.
Family-based association study of DYX1C1 variants in autism.
Eur J Hum Genet
; 13(1): 127-30, 2005 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-15470369
16.
Analysis of four neuroligin genes as candidates for autism.
Eur J Hum Genet
; 13(12): 1285-92, 2005 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-16077734
17.
A Pooled Genome-Wide Association Study of Asperger Syndrome.
PLoS One
; 10(7): e0131202, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26176695
18.
A genome wide association study of mathematical ability reveals an association at chromosome 3q29, a locus associated with autism and learning difficulties: a preliminary study.
PLoS One
; 9(5): e96374, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-24801482
19.
A framework for the interpretation of de novo mutation in human disease.
Nat Genet
; 46(9): 944-50, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25086666
20.
A genome-wide analysis of populations from European Russia reveals a new pole of genetic diversity in northern Europe.
PLoS One
; 8(3): e58552, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-23505534