Associated Papers
ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.
Sande CM et al.
The Journal of Clinical Investigation, 2025
Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.
Odintsov I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.
Wang S et al.
Journal of Cellular and Molecular Medicine, 2024
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.
Avramović V et al.
Human Genomics, 2021
Mutational landscape of severe combined immunodeficiency patients from Turkey.
Firtina S et al.
International Journal of Immunogenetics, 2020
Severe cases of BCGosis-susceptible primary immunodeficiency diseases identified by next-generation sequencing: Implications for adjustment of BCG vaccination timing in China.
Liu G et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2020
A Decade Experience on Severe Combined Immunodeficiency Phenotype in Oman, Bridging to Newborn Screening.
Al Sukaiti N et al.
Frontiers in Immunology, 2020
Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.
Vignesh P et al.
Frontiers in Immunology, 2020
Analysis of the Whole-Exome Sequencing of Tumor and Circulating Tumor DNA in Metastatic Melanoma.
Diefenbach RJ et al.
Cancers, 2019
Different responses to anti-programmed cell death protein 1 (PD-1) immunotherapy in a patient with Lynch syndrome and metachronous urothelial and colon cancer: A case report.
Feng Y et al.
Oncology Letters, 2019
Analysis of error profiles in deep next-generation sequencing data.
Ma X et al.
Genome Biology, 2019
Unconditioned unrelated donor bone marrow transplantation for IL7Rα- and Artemis-deficient SCID.
Dvorak CC et al.
Bone Marrow Transplantation, 2017
Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population.
Barbouche MR et al.
Frontiers in Immunology, 2017
Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency.
Luk ADW et al.
Frontiers in Immunology, 2017
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.
Yu H et al.
The Journal of Allergy and Clinical Immunology, 2016
Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias.
Zago CA et al.
Human Immunology, 2014
Clonal architectures and driver mutations in metastatic melanomas.
Ding L et al.
Plos One, 2014
Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID.
Yu GP et al.
Pediatric Transplantation, 2011
[A compound heterozygosity mutation in the interleukin-7 receptor-alpha gene resulted in severe combined immunodeficiency in a Chinese patient].
Zhang ZY et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009
Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients.
Giliani S et al.
Immunological Reviews, 2005
Centralized rapid genetic diagnosis of combined immunodeficiency in Japan.
Kato T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0