Associated Papers
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4-Dependent Transendocytosis by Flow Cytometry.
Rojas-Restrepo J et al.
Journal of Clinical Immunology, 2023
Inborn Errors of Immunity in Children with Autoimmune and Allergic Complaints: A Single Center Experience from Diagnosis to Treatment.
Boz V et al.
Biomedicines, 2023
Successful Treatment of Granulomatous-lymphocytic Interstitial Lung Disease in a Patient with CTLA-4 Deficiency.
Nishimura M et al.
Internal Medicine (tokyo, Japan), 2023
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study.
Hoshino A et al.
Frontiers in Immunology, 2021
35087518 (PubMed )
Supplement: DataSheet_1.docx
Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.
Wang Y et al.
Frontiers in Oncology, 2019
30886832 (PubMed )
Supplement: Table_2.xls › Table_2
Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.
Rae W et al.
Clinical Genetics, 2018
Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort.
Rae W et al.
Clinical & Translational Immunology, 2017
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