Detalhe da pesquisa
1.
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
2.
Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency.
J Clin Immunol;
41(6): 1272-1290, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33929673
3.
CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis.
Blood;
134(18): 1510-1516, 2019 10 31.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31501153
4.
Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease mice.
Hum Mol Genet;
27(6): 954-968, 2018 03 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29325092
5.
VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data.
Nucleic Acids Res;
45(W1): W567-W572, 2017 07 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28520890
6.
Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations.
Br J Haematol;
182(2): 251-258, 2018 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29797310
7.
Unreported Missense Mutation in the Dimerization Domain of ADA2 Leads to ADA2 Deficiency Associated with Severe Oral Ulcers and Neutropenia in a Female Somalian Patient-Addendum to the Genotype-Phenotype Puzzle.
J Clin Immunol;
40(1): 223-226, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31686313
8.
F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects.
J Allergy Clin Immunol;
143(6): 2317-2321.e12, 2019 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30822429
9.
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.
Nat Commun;
15(1): 1640, 2024 Feb 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38388531
10.
Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome.
Res Sq;
2023 Sep 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37720017
11.
Novel PGM3 mutation in two siblings with combined immunodeficiency and childhood bullous pemphigoid: a case report and review of the literature.
Allergy Asthma Clin Immunol;
18(1): 111, 2022 Dec 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36566211
12.
Novel Variants of DOCK8 Deficiency in a Case Series of Iranian Patients.
Endocr Metab Immune Disord Drug Targets;
22(1): 159-168, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33634762
13.
Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity.
Sci Immunol;
6(65): eabe3981, 2021 Nov 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34826259
14.
CD70 Deficiency Associated With Chronic Epstein-Barr Virus Infection, Recurrent Airway Infections and Severe Gingivitis in a 24-Year-Old Woman.
Front Immunol;
11: 1593, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32849540
15.
Short-term in-vitro expansion improves monitoring and allows affordable generation of virus-specific T-cells against several viruses for a broad clinical application.
PLoS One;
8(4): e59592, 2013.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23630567