Associated Papers
Germline Telomere-Regulating Gene Variants Are Not Associated with Thyroid Cancer in a Saudi Arabian Population.
Alzahrani AS et al.
Thyroid : Official Journal of the American Thyroid Association, 2025
Germline variants in CDKN2A wild-type melanoma prone families.
Iversen GT et al.
Molecular Oncology, 2025
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach.
Jaramillo Oquendo C et al.
Genome Medicine, 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
Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients.
Soares de Sá BC et al.
International Journal of Molecular Sciences, 2023
Germline Variants in Childhood Cutaneous Melanoma.
Johansson PA et al.
The Journal of Investigative Dermatology, 2023
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
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Aguiar T et al.
Frontiers in Genetics, 2022
The clinical and functional effects of TERT variants in myelodysplastic syndrome.
Reilly CR et al.
Blood, 2021
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.
Grossi A et al.
Genes, 2021
Mild catalytic defects of tert rs61748181 polymorphism affect the clinical presentation of chronic obstructive pulmonary disease.
Xu J et al.
Scientific Reports, 2021
Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.
Chirita-Emandi A et al.
Scientific Reports, 2020
Targeted Mutational Profiling and a Powerful Risk Score as Additional Tools for the Diagnosis of Papillary Thyroid Cancer.
Kocsis-Deák B et al.
Pathology Oncology Research : Por, 2020
Characterization and Impact of TERT Promoter Region Mutations on Clinical Outcome in Renal Cell Carcinoma.
Casuscelli J et al.
European Urology Focus, 2019
Pathogenic TERT promoter variants in telomere diseases.
Gutierrez-Rodrigues F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor.
Gadd S et al.
Nature Genetics, 2017
Congenital hemophagocytic lymphohistiocytosis presenting as thrombocytopenia in a newborn.
Hinson A et al.
Journal of Pediatric Hematology/oncology, 2015
Many disease-associated variants of hTERT retain high telomerase enzymatic activity.
Zaug AJ et al.
Nucleic Acids Research, 2013
Telomerase reverse transcriptase locus polymorphisms and cancer risk: a field synopsis and meta-analysis.
Mocellin S et al.
Journal of the National Cancer Institute, 2012
Telomerase mutation: a genetic risk factor for cirrhosis.
Chaiteerakij R et al.
Hepatology (baltimore, Md.), 2011
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia.
Kirwan M et al.
Human Mutation, 2009
Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.
Vulliamy TJ et al.
Biochimie, 2008
Salutary Response to Targeted Therapy in Anaplastic Thyroid Cancer.
Fazeli S et al.
Journal of Investigative Medicine High Impact Case Reports, 0