Associated Papers
Rare damaging variants in the sex differences of congenital heart disease: an exome sequencing study.
Sun H et al.
Ebiomedicine, 2025
40347836 (PubMed )
Supplement: mmc4.xlsx › Supplementary_Table_9
Early bone marrow alterations in patients with adenosine deaminase 2 deficiency across disease phenotypes and severities.
Bulté D et al.
The Journal of Allergy and Clinical Immunology, 2025
Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2.
Chen L et al.
The Journal of Allergy and Clinical Immunology, 2023
Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.
Whittaker E et al.
Journal of the American Heart Association, 2022
APOBEC SBS13 Mutational Signature-A Novel Predictor of Radioactive Iodine Refractory Papillary Thyroid Carcinoma.
Siraj S et al.
Cancers, 2022
35326735 (PubMed )
Supplement: cancers-14-01584-s001.zip › SupplementaryTables.xlsx › Supplementary_Table_S3
Deficiency of Human Adenosine Deaminase Type 2 - A Diagnostic Conundrum for the Hematologist.
Pilania RK et al.
Frontiers in Immunology, 2022
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.
Hashem H et al.
Journal of Clinical Immunology, 2021
Lentiviral correction of enzymatic activity restrains macrophage inflammation in adenosine deaminase 2 deficiency.
Zoccolillo M et al.
Blood Advances, 2021
A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2.
Özen S et al.
The Journal of Rheumatology, 2020
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
Cifaldi C et al.
Frontiers in Immunology, 2019
ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell Transplantation.
Barzaghi F et al.
Frontiers in Immunology, 2018
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