Associated Papers
Comorbidities in Mild WAS/XLT Require Lifelong Follow-Up and Consideration of Definitive Treatment.
Mallebranche C et al.
American Journal of Hematology, 2025
Hemophagocytic Lymphohistiocytosis Gene Variants in Severe COVID-19 Cytokine Storm Syndrome.
Kamath A et al.
Viruses, 2025
Origins of Second Malignancies in Children and Mutational Footprint of Chemotherapy in Normal Tissues.
Sánchez-Guixé M et al.
Cancer Discovery, 2024
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Marconi C et al.
Haematologica, 2023
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology.
Chinn IK et al.
The Journal of Allergy and Clinical Immunology, 2020
A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.
Johnson B et al.
Research and Practice in Thrombosis and Haemostasis, 2018
Screening for Wiskott-Aldrich syndrome by flow cytometry.
Chiang SCC et al.
The Journal of Allergy and Clinical Immunology, 2018
Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes.
Grodecká L et al.
Clinical Immunology (orlando, Fla.), 2017
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
Stray-Pedersen A et al.
The Journal of Allergy and Clinical Immunology, 2017
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
Omoyinmi E et al.
Plos One, 2017
X-linked thrombocytopenia in a female with a complex familial pattern of X-chromosome inactivation.
Daza-Cajigal V et al.
Blood Cells, Molecules & Diseases, 2013
The Wiskott-Aldrich syndrome: from genotype-phenotype correlation to treatment.
Moratto D et al.
Expert Review of Clinical Immunology, 2007
Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR.
Proust A et al.
Blood Cells, Molecules & Diseases, 0