Associated Papers
Long-Read Amplicon Sequencing for the Detection of TERT Promoter Variant Clonal Hematopoiesis in Patients with Telomere Biology Disorders.
Kirchner R et al.
The Journal of Molecular Diagnostics : Jmd, 2026
Subclinical Telomere Biology Disorder in Cancer Patients Heterozygous for the RTEL1 R1264H Founder Variant.
Banaszak LG et al.
American Journal of Medical Genetics. Part A, 2025
Case Series: Clinical Significance of Heterozygous Pathogenic RTEL1 Variants Identified via Routine Clinical Genetic Diagnostics.
Wedge E et al.
American Journal of Medical Genetics. Part A, 2025
Efficient Installation of Heterozygous Mutations in Human Pluripotent Stem Cells Using Prime Editing.
Suter A et al.
The Crispr Journal, 2025
The Converging Roles of Nucleases and Helicases in Genome Maintenance and the Aging Process.
Margariti A et al.
Life (basel, Switzerland), 2025
TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders.
de Andrade KC et al.
Npj Genomic Medicine, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Late-onset telomere biology disorders in adults: clinical insights and treatment outcomes from a retrospective registry cohort.
Tometten M et al.
Blood Advances, 2025
Germline pathogenic variants in DNA repair pathways: a key feature in a significant subset of translocation-associated sarcomas.
Saoud C et al.
Npj Precision Oncology, 2025
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
Germline RTEL1 Variants in Telomere Biology Disorders.
Thompson AS et al.
American Journal of Medical Genetics. Part A, 2025
Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.
Niewisch MR et al.
Jama Network Open, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H et al.
Embo Molecular Medicine, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Exploration of the potential causative genes for inflammatory bowel disease: Transcriptome-wide association analysis, Mendelian randomization analysis and Bayesian colocalisation.
Luo Q et al.
Heliyon, 2024
Lung transplant recipients with telomere-mediated pulmonary fibrosis have increased risk for hematologic complications.
Hannan SJ et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2023
Advancing diagnosis and management of liver disease in adults through exome sequencing.
Zheng M et al.
Ebiomedicine, 2023
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
Neonatal intestinal obstruction in Hoyeraal-Hreidarsson syndrome with novel RTEL1 variants.
Tobai H et al.
Pediatric Blood & Cancer, 2023
The Genetic Landscape of Familial Pulmonary Fibrosis.
Liu Q et al.
American Journal of Respiratory and Critical Care Medicine, 2023
Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.
Saygin C et al.
Blood Advances, 2023
Case report: A novel mutation in RTEL1 gene in dyskeratosis congenita.
Nisar H et al.
Frontiers in Oncology, 2023
Compound heterozygous mutations in the helicase RTEL1 causing Hoyeraal-Hreidarsson syndrome with Blake`s pouch cyst: a case report.
He M et al.
The Turkish Journal of Pediatrics, 2023
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
DeRoin L et al.
Human Mutation, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Abnormal function of telomere protein TRF2 induces cell mutation and the effects of environmental tumor‑promoting factors (Review).
Wang Z et al.
Oncology Reports, 2021
RTEL1 influences the abundance and localization of TERRA RNA.
Ghisays F et al.
Nature Communications, 2021
Treating primary immunodeficiencies with defects in NK cells: from stem cell therapy to gene editing.
Eguizabal C et al.
Stem Cell Research & Therapy, 2020
An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency.
Ziv A et al.
Journal of Clinical Immunology, 2020
Human RTEL1 associates with Poldip3 to facilitate responses to replication stress and R-loop resolution.
Björkman A et al.
Genes & Development, 2020
Short telomere syndromes cause a primary T cell immunodeficiency.
Wagner CL et al.
The Journal of Clinical Investigation, 2018
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
Diagnostic utility of telomere length testing in a hospital-based setting.
Alder JK et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes.
Guidugli L et al.
Leukemia, 2017
Clinical and Molecular Heterogeneity of RTEL1 Deficiency.
Speckmann C et al.
Frontiers in Immunology, 2017
Advances in clinical immunology in 2015.
Chinen J et al.
The Journal of Allergy and Clinical Immunology, 2016
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
Keel SB et al.
Haematologica, 2016
The molecular genetics of the telomere biology disorders.
Bertuch AA
Rna Biology, 2016
Molecular basis of telomere dysfunction in human genetic diseases.
Sarek G et al.
Nature Structural & Molecular Biology, 2015
A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.
Hanna S et al.
The Journal of Allergy and Clinical Immunology, 2015
Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.
Fedick AM et al.
Clinical Genetics, 2015
Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.
Glousker G et al.
British Journal of Haematology, 2015
Rare variants in RTEL1 are associated with familial interstitial pneumonia.
Cogan JD et al.
American Journal of Respiratory and Critical Care Medicine, 2015