Area of research
Immunology · Radiology, Nuclear Medicine and Imaging
Research interest
Research interests include Immunodeficiency and Autoimmune Disorders, Blood disorders and treatments, Cardiac Imaging and Diagnostics, and Advanced MRI Techniques and Applications.
Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee
The 2024 update of IUIS phenotypic classification of human inborn errors of immunity
Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival
Clinical and functional spectrum of RAC2-related immunodeficiency
Establishment of Stable Knockdown of MACC1 Oncogene in Patient-Derived Ovarian Cancer Organoids
A program of successive gene expression in mouse one-cell embryos
Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards
Data from Combined Genome and Transcriptome Analysis of Single Disseminated Cancer Cells from Bone Marrow of Prostate Cancer Patients Reveals Unexpected Transcriptomes
Data from Combined Genome and Transcriptome Analysis of Single Disseminated Cancer Cells from Bone Marrow of Prostate Cancer Patients Reveals Unexpected Transcriptomes
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee
The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity
Optimized human intestinal organoid model reveals interleukin-22-dependency of paneth cell formation
Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis
Leaflet-splitting device to prevent coronary artery obstruction in valve-in-valve transcatheter aortic valve implantation
The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee
An Integrated Taxonomy for Monogenic Inflammatory Bowel Disease
Heterozygous <i>OAS1</i> gain-of-function variants cause an autoinflammatory immunodeficiency
Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of Immunity
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis
Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease
The balance between the intronic miR-342 and its host gene Evl determines hematopoietic cell fate decision
Publisher Correction: Comprehensive genomic characterization of gene therapy-induced T-cell acute lymphoblastic leukemia
The Human Phenotype Ontology in 2021
Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification
Clinical Genomics for the Diagnosis of Monogenic Forms of Inflammatory Bowel Disease
Leukemia-induced dysfunctional TIM-3+CD4+ bone marrow T cells increase risk of relapse in pediatric B-precursor ALL patients
Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells
An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency
Reliability and Influence on Decision Making of fully-automated vs. semi-automated Software Packages for Procedural Planning in TAVI