Detalhe da pesquisa
1.
Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.
J Clin Immunol
; 36(2): 117-22, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26801501
2.
Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations.
Genet Med
; 16(12): 962-71, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24901348
3.
Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease.
J Crohns Colitis
; 17(1): 49-60, 2023 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35907265
4.
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
medRxiv
; 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38196618
5.
Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.
J Clin Immunol
; 36(3): 336-7, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26941167
6.
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.
Nat Genet
; 53(4): 500-510, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33782605
7.
Author Correction: Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.
Nat Genet
; 54(2): 213, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34987219
8.
Functionally significant, rare transcription factor variants in tetralogy of Fallot.
PLoS One
; 9(8): e95453, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25093829
9.
Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.
Heart
; 96(20): 1651-5, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20937753
10.
Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation.
PLoS One
; 4(3): e4978, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19308252