Detalhe da pesquisa
1.
Differential IRF8 Transcription Factor Requirement Defines Two Pathways of Dendritic Cell Development in Humans.
Immunity
; 53(2): 353-370.e8, 2020 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32735845
2.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Nature
; 583(7814): 90-95, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32499645
3.
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Nature
; 584(7819): E2, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32678341
4.
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.
Am J Hum Genet
; 104(5): 985-989, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31006513
5.
Detection and characterization of male sex chromosome abnormalities in the UK Biobank study.
Genet Med
; 24(9): 1909-1919, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35687092
6.
Thousands of missing variants in the UK Biobank are recoverable by genome realignment.
Ann Hum Genet
; 84(3): 214-220, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32232836
7.
Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency.
Clin Immunol
; 203: 23-27, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30953794
8.
Predicting the Occurrence of Variants in RAG1 and RAG2.
J Clin Immunol
; 39(7): 688-701, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31388879
9.
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.
J Allergy Clin Immunol
; 142(4): 1285-1296, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29477724
10.
Practical challenges for functional validation of STAT1 gain of function genetic variants.
Clin Exp Immunol
; 212(2): 166-169, 2023 04 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36722341
11.
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Prenat Diagn
; 38(1): 33-43, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29096039
12.
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
J Am Soc Nephrol
; 28(8): 2529-2539, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28373276
13.
The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.
Lancet
; 386(9997): 957-63, 2015 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26231457
14.
SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.
Clin Endocrinol (Oxf)
; 84(5): 715-9, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26708403
15.
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
Nature
; 467(7317): 832-8, 2010 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-20881960
16.
Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans.
J Med Genet
; 51(4): 264-7, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24459211
17.
Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency.
J Allergy Clin Immunol
; 141(6): 2303-2306, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29477728
18.
GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health.
Nat Commun
; 12(1): 4178, 2021 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34234147
19.
Copy number variation of LINGO1 in familial dystonic tremor.
Neurol Genet
; 5(1): e307, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30842974
20.
Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.
J Exp Med
; 216(9): 1986-1998, 2019 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31235509