Associated Papers
Whole genome sequencing-based analysis of genetic predisposition to adult glioblastoma.
van Opijnen MP et al.
Npj Genomic Medicine, 2025
Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.
Sukrithan V et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2025
A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.
Galbo PM et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
Germline functional variants contribute to somatic mutation and outcomes in neuroblastoma.
Seo ES et al.
Nature Communications, 2024
The First Case of Acute Myeloid Leukemia With Underlying Fanconi Anemia due to FANCF Variants in Korea.
Suh E et al.
Annals of Laboratory Medicine, 2023
Genomic and transcriptomic analyses identify a prognostic gene signature and predict response to therapy in pleural and peritoneal mesothelioma.
Nair NU et al.
Cell Reports. Medicine, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Spectrum and management of breast cancer patients with variant of uncertain significance mutations at a tertiary care centre in North India.
Mittal A et al.
Ecancermedicalscience, 2022
Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study.
Li N et al.
Npj Breast Cancer, 2021
A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.
Nassar AH et al.
British Journal of Cancer, 2020
Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites.
Nassar AH et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 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
Phenotypic variability in patients with Fanconi anemia and biallelic FANCF mutations.
Tryon R et al.
American Journal of Medical Genetics. Part A, 2017
Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing.
Nicchia E et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2015
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.
Nicchia E et al.
Molecular Genetics & Genomic Medicine, 2015
A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients.
Chandra S et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2005