Detalhe da pesquisa
1.
MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease.
Am J Hum Genet
; 109(2): 210-222, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35065709
2.
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.
J Med Genet
; 59(4): 393-398, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33879512
3.
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
J Allergy Clin Immunol
; 149(1): 369-378, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33991581
4.
Disease modeling of core pre-mRNA splicing factor haploinsufficiency.
Hum Mol Genet
; 28(22): 3704-3723, 2019 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31304552
5.
Differential levels of IFNα subtypes in autoimmunity and viral infection.
Cytokine
; 144: 155533, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33941444
6.
'Reluctant pioneer': A qualitative study of doctors' experiences as patients with long COVID.
Health Expect
; 24(3): 833-842, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33749957
7.
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Hum Mutat
; 41(4): 837-849, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31898846
8.
Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.
Neuropediatrics
; 51(3): 178-184, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31779033
9.
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease.
J Allergy Clin Immunol
; 143(4): 1482-1495, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30170123
10.
DDX58 and Classic Singleton-Merten Syndrome.
J Clin Immunol
; 39(1): 75-80, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30574673
11.
FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.
J Med Genet
; 54(1): 64-72, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27572252
12.
Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease.
J Clin Immunol
; 37(2): 123-132, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27943079
13.
Childhood-onset autoimmune cytopenia as the presenting feature of biallelic ACP5 mutations.
Pediatr Blood Cancer
; 64(2): 306-310, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27718324
14.
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Neuropediatrics
; 48(3): 166-184, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28561207
15.
TCF3 Dominant Negative Variant Causes an Early Block in B-Lymphopoiesis and Agammaglobulinemia.
J Clin Immunol
; 41(6): 1391-1394, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33905048
16.
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
J Clin Immunol
; 36(3): 220-34, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26951490
17.
Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region.
Am J Med Genet A
; 170A(1): 170-5, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26395259
18.
The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single-institution experience.
Clin Otolaryngol
; 46(6): 1257-1262, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34171171
19.
RNASEH2B Related Adult-Onset Interferonopathy.
J Clin Immunol
; 39(6): 620-622, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31367981
20.
Type I interferon regulates interleukin-1beta and IL-18 production and secretion in human macrophages.
Life Sci Alliance
; 7(6)2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38527803