Associated Papers
Emergence and Cytogenetic Clonal Evolution of Chromosome 7 Abnormalities in Myeloid Malignancies: Investigating the Role of Telomere Dysfunction.
Baldazzi C et al.
International Journal of Molecular Sciences, 2025
Germline loss-of-function variant in the E3 ubiquitin ligase TRAF2 in a young adult patient with medulloblastoma: a case report.
Vo JN et al.
Acta Neuropathologica Communications, 2024
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
Germline variants in acquired aplastic anemia: current knowledge and future perspectives.
Wang P et al.
Haematologica, 2024
Late-onset and long-lasting neutropenias in the young: A new entity anticipating immune-dysregulation disorders.
Fioredda F et al.
American Journal of Hematology, 2024
Telomere biology disorders may manifest as common variable immunodeficiency (CVID).
Rolles B et al.
Clinical Immunology (orlando, Fla.), 2023
Hematopoietic stem cell transplantation of aplastic anemia by relative with mutations and normal telomere length: A case report.
Yan J et al.
World Journal of Clinical Cases, 2023
Autoimmune Neutropenia and Immune-Dysregulation in a Patient Carrying a TINF2 Variant.
Chianucci B et al.
International Journal of Molecular Sciences, 2022
Impaired Overall Survival in Young Patients With Acute Myeloid Leukemia and Variants in Genes Predisposing for Myeloid Malignancies.
Kirschner M et al.
Hemasphere, 2022
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.
Kernan KF et al.
Journal of Clinical Immunology, 2022
Genetic screening of children with marrow failure. The role of primary Immunodeficiencies.
Miano M et al.
American Journal of Hematology, 2021
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.
Grossi A et al.
Genes, 2021
Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.
Moradian MM et al.
Human Genome Variation, 2021
Genetic variants in children with chronic respiratory diseases.
Alsamri MT et al.
Pediatric Pulmonology, 2020
Screening of genetic variants in ELANE mutation negative congenital neutropenia by next generation sequencing.
Arunachalam AK et al.
Journal of Clinical Pathology, 2020
Structural Features of Nucleoprotein CST/Shelterin Complex Involved in the Telomere Maintenance and Its Association with Disease Mutations.
Amir M et al.
Cells, 2020
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon N et al.
Frontiers in Immunology, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.
Potjer TP et al.
International Journal of Cancer, 2019
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Lauhasurayotin S et al.
Npj Genomic Medicine, 2019
Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.
Petersen BS et al.
Inflammatory Bowel Diseases, 2017
Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma.
Zheng S et al.
Cancer Cell, 2016
TINF2 Gene Mutation in a Patient with Pulmonary Fibrosis.
Hoffman TW et al.
Case Reports in Pulmonology, 2016
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.
Ghemlas I et al.
Journal of Medical Genetics, 2015
Ser245Tyr TINF2 mutation in a long-term survivor after a second myeloablative SCT following late graft failure for Aplastic Anaemia.
Miano M et al.
Blood Cells, Molecules & Diseases, 2015
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.
Rodriguez-Flores JL et al.
Human Mutation, 2014
Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.
Vulliamy T et al.
Clinical Genetics, 2012
Telomere dysfunction in human diseases: the long and short of it!
Carroll KA et al.
International Journal of Clinical and Experimental Pathology, 2009
TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.
Walne AJ et al.
Blood, 2008