Associated Papers
Genetic architecture of multiple primary cutaneous melanoma in the absence of high-penetrance susceptibility genes.
Johansson PA et al.
The Journal of Investigative Dermatology, 2026
Structures of nucleotide-bound human telomerase at several steps of its telomeric DNA repeat addition cycle.
Balch S et al.
Nature Communications, 2026
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 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
Diagnostic Uptake of Targeted Sequencing in Adults With Steatotic Liver Disease and a Suspected Genetic Contribution.
Ronzoni L et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2025
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 Variants in Patients Affected by Both Uveal and Cutaneous Melanoma.
Johansson PA et al.
Pigment Cell & Melanoma Research, 2025
Long read sequencing identifies complex structural variant landscape and recurrent TERT rearrangements in mucoepidermoid carcinoma.
Gensterblum-Miller E et al.
Oral Oncology, 2024
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H et al.
Embo Molecular Medicine, 2024
Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers.
Deyell RJ et al.
Nature Communications, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Kong XF et al.
Scientific Reports, 2023
Telomere biology disorders may manifest as common variable immunodeficiency (CVID).
Rolles B et al.
Clinical Immunology (orlando, Fla.), 2023
Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness.
Andersen LVB et al.
Breast Cancer Research : Bcr, 2023
Rare genetic variants involved in multisystem inflammatory syndrome in children: a multicenter Brazilian cohort study.
Reis BCSD et al.
Frontiers in Cellular and Infection Microbiology, 2023
Genetic variation in genes of inborn errors of immunity in children with unexplained encephalitis.
Malik D et al.
Genes and Immunity, 2022
A study of Telomerase Reverse Transcriptase rare variants in myeloid neoplasia.
Gurnari C et al.
Hematological Oncology, 2022
Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.
Callea M et al.
Genes, 2022
Short NK- and Naïve T-Cell Telomere Length Is Associated with Thyroid Cancer in Childhood Cancer Survivors: A Report from the Childhood Cancer Survivor Study.
Man TK et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 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
Reduced-intensity conditioning-based hematopoietic cell transplantation for dyskeratosis congenita: Single-center experience and literature review.
Bhoopalan SV et al.
Pediatric Blood & Cancer, 2021
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
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
Wagener R et al.
European Journal of Human Genetics : Ejhg, 2021
Co-occurrence of thyroid and breast cancer is associated with an increased oncogenic SNP burden.
Bakos B et al.
Bmc Cancer, 2021
Hedgehog Pathway Alterations Downstream of Patched-1 Are Common in Infundibulocystic Basal Cell Carcinoma.
Russell-Goldman E et al.
The American Journal of Dermatopathology, 2021
Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes.
Gálvez E et al.
Hemasphere, 2021
Clinical and functional characterization of telomerase variants in patients with pediatric acute myeloid leukemia/myelodysplastic syndrome.
Tomlinson CG et al.
Leukemia, 2021
Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.
Van Marcke C et al.
Breast Cancer Research : Bcr, 2020
Germline DNA Sequencing Reveals Novel Mutations Predictive of Overall Survival in a Cohort of Patients with Pancreatic Cancer.
Goldstein JB et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2020
Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.
Durham BH et al.
Nature Medicine, 2019
The molecular landscape of ETMR at diagnosis and relapse.
Lambo S et al.
Nature, 2019
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Rare Protein-Altering Telomere-related Gene Variants in Patients with Chronic Hypersensitivity Pneumonitis.
Ley B et al.
American Journal of Respiratory and Critical Care Medicine, 2019
The Spectrum of Hepatic Involvement in Patients With Telomere Disease.
Kapuria D et al.
Hepatology (baltimore, Md.), 2019
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Lauhasurayotin S et al.
Npj Genomic Medicine, 2019
Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita.
Kirschner M et al.
Leukemia, 2018
Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.
Norberg A et al.
European Journal of Human Genetics : Ejhg, 2018
Fanconi Anemia germline variants as susceptibility factors in aplastic anemia, MDS and AML.
Przychodzen B et al.
Oncotarget, 2018
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 2018
Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge.
Kundu K et al.
Human Mutation, 2017
Assessing risk for Mendelian disorders in a Bronx population.
diSibio G et al.
Molecular Genetics & Genomic Medicine, 2017
A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors.
Dumanski JP et al.
Endocrine-related Cancer, 2017
Telomerase reverse transcriptase germline mutations and hepatocellular carcinoma in patients with nonalcoholic fatty liver disease.
Donati B et al.
Cancer Medicine, 2017