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1.
Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.
J Allergy Clin Immunol
; 143(2): 726-735, 2019 02.
Article
in English
| MEDLINE | ID: mdl-29772310
2.
Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome.
Blood
; 129(21): 2928-2938, 2017 05 25.
Article
in English
| MEDLINE | ID: mdl-28331055
3.
Outcomes after Allogeneic Transplant in Patients with Wiskott-Aldrich Syndrome.
Biol Blood Marrow Transplant
; 24(3): 537-541, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29196075
4.
High Incidence of Autoimmune Disease after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease.
Biol Blood Marrow Transplant
; 24(8): 1643-1650, 2018 08.
Article
in English
| MEDLINE | ID: mdl-29630926
5.
Improved diagnostic clarity in shrimp allergic non-dust-mite sensitized patients.
Allergy Asthma Proc
; 39(5): 377-383, 2018 Sep 01.
Article
in English
| MEDLINE | ID: mdl-30153888
6.
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
J Allergy Clin Immunol
; 139(1): 232-245, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27577878
7.
Case 40-2018: A Woman with Recurrent Sinusitis, Cough, and Bronchiectasis.
N Engl J Med
; 380(14): 1383, 2019 04 04.
Article
in English
| MEDLINE | ID: mdl-30943358
8.
Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function.
Am J Med Genet A
; 173(3): 716-720, 2017 Mar.
Article
in English
| MEDLINE | ID: mdl-28127865
9.
Molecular mechanisms of functional natural killer deficiency in patients with partial DiGeorge syndrome.
J Allergy Clin Immunol
; 135(5): 1293-302, 2015 May.
Article
in English
| MEDLINE | ID: mdl-25748067
10.
Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.
J Clin Immunol
; 34(7): 871-90, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-25073507
11.
Primary Sclerosing Cholangitis.
N Engl J Med
; 375(25): 2501, 2016 12 22.
Article
in English
| MEDLINE | ID: mdl-28002708
12.
Vaccine-acquired rotavirus in infants with severe combined immunodeficiency.
N Engl J Med
; 362(4): 314-9, 2010 Jan 28.
Article
in English
| MEDLINE | ID: mdl-20107217
13.
Combined immunodeficiency caused by pathogenic variants in the ZAP70 C-terminal SH2 domain.
Front Immunol
; 14: 1155883, 2023.
Article
in English
| MEDLINE | ID: mdl-37313400
14.
Cord blood transplantation for nonmalignant disorders: early functional immunity and high survival.
Blood Adv
; 7(9): 1823-1830, 2023 05 09.
Article
in English
| MEDLINE | ID: mdl-36453638
15.
A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.
J Allergy Clin Immunol
; 138(2): 599-601.e3, 2016 08.
Article
in English
| MEDLINE | ID: mdl-27016801
16.
Methods for Cross-Cultural Communication in Clinic Encounters.
J Allergy Clin Immunol Pract
; 10(4): 893-900, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35091120
17.
Deconstructing the Way We Use Pulmonary Function Test Race-Based Adjustments.
J Allergy Clin Immunol Pract
; 10(4): 972-978, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35184982
18.
PI Prob: A risk prediction and clinical guidance system for evaluating patients with recurrent infections.
PLoS One
; 16(2): e0237285, 2021.
Article
in English
| MEDLINE | ID: mdl-33591972
19.
Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of Immunity.
Front Immunol
; 12: 796065, 2021.
Article
in English
| MEDLINE | ID: mdl-35003119
20.
Outcomes of patients with severe combined immunodeficiency treated with hematopoietic stem cell transplantation with and without preconditioning.
J Allergy Clin Immunol
; 124(5): 1062-9.e1-4, 2009 Nov.
Article
in English
| MEDLINE | ID: mdl-19895994