Detalhe da pesquisa
1.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Nature
; 583(7814): 90-95, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32499645
2.
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Nature
; 584(7819): E2, 2020 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-32678341
3.
Immunoglobulin Replacement Therapy During COVID-19 Pandemic: Practical and Psychological Impact in Patients with Antibody Deficiency.
J Clin Immunol
; 43(7): 1519-1525, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37357249
4.
Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma.
J Clin Immunol
; 43(7): 1611-1622, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37316763
5.
Practical challenges for functional validation of STAT1 gain of function genetic variants.
Clin Exp Immunol
; 212(2): 166-169, 2023 04 25.
Artigo
Inglês
| MEDLINE | ID: mdl-36722341
6.
Thymus transplantation for complete DiGeorge syndrome: European experience.
J Allergy Clin Immunol
; 140(6): 1660-1670.e16, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-28400115
7.
Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees.
Br J Haematol
; 191(5): 930-934, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32966608
8.
Biallelic deleterious germline SH2B3 variants cause a novel syndrome of myeloproliferation and multi-organ autoimmunity.
EJHaem
; 4(2): 463-469, 2023 May.
Artigo
Inglês
| MEDLINE | ID: mdl-37206266
9.
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.
J Exp Med
; 220(5)2023 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36884218