Detalhe da pesquisa
1.
BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency.
Nat Immunol
; 18(7): 813-823, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28530713
2.
Genome sequencing reveals loci under artificial selection that underlie disease phenotypes in the laboratory rat.
Cell
; 154(3): 691-703, 2013 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23890820
3.
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature
; 583(7814): 96-102, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32581362
4.
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.
J Med Genet
; 61(3): 232-238, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37813462
5.
Ancient DNA at the edge of the world: Continental immigration and the persistence of Neolithic male lineages in Bronze Age Orkney.
Proc Natl Acad Sci U S A
; 119(8)2022 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35131896
6.
Glomerulonephritis and autoimmune vasculitis are independent of P2RX7 but may depend on alternative inflammasome pathways.
J Pathol
; 257(3): 300-313, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35239186
7.
Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions.
PLoS Genet
; 15(11): e1008480, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31765389
8.
Inherited Thoracic Aortic Disease: New Insights and Translational Targets.
Circulation
; 141(19): 1570-1587, 2020 05 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32392100
9.
A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer.
Am J Hum Genet
; 103(2): 213-220, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30075112
10.
The zinc transporter ZIP12 regulates the pulmonary vascular response to chronic hypoxia.
Nature
; 524(7565): 356-60, 2015 Aug 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-26258299
11.
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.
Am J Hum Genet
; 99(5): 1005-1014, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27745832
12.
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.
Genet Med
; 20(11): 1414-1422, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29543232
13.
The future of model organisms in human disease research.
Nat Rev Genet
; 12(8): 575-82, 2011 07 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-21765459
14.
Macrophage epoxygenase determines a profibrotic transcriptome signature.
J Immunol
; 194(10): 4705-4716, 2015 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25840911
15.
Genetic analysis of the cardiac methylome at single nucleotide resolution in a model of human cardiovascular disease.
PLoS Genet
; 10(12): e1004813, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25474312
16.
Natural polymorphisms in Tap2 influence negative selection and CD4â¶CD8 lineage commitment in the rat.
PLoS Genet
; 10(2): e1004151, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24586191
17.
Genomic pathology of SLE-associated copy-number variation at the FCGR2C/FCGR3B/FCGR2B locus.
Am J Hum Genet
; 92(1): 28-40, 2013 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23261299
18.
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.
Genet Med
; 18(11): 1119-1127, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27011056
19.
A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk.
Nature
; 467(7314): 460-4, 2010 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-20827270
20.
FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity.
Nat Genet
; 39(6): 721-3, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17529978