Associated Papers
CDKN2A homozygous deletions and TSC2 somatic mutations in metastatic pancreatic neuroendocrine tumors.
Jesus TT et al.
Npj Precision Oncology, 2025
Germline DNA Repair Gene Mutations and Clonal Hematopoiesis (CH) in 24,849 Patients with BRCA-Associated Cancers.
Marshall CH et al.
Cancers, 2025
Identification of intragenic variants in pediatric patients with intellectual disability in Peru.
Abarca-Barriga HH et al.
Bmc Medical Genomics, 2025
A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population.
Lamilla J et al.
Diagnostics (basel, Switzerland), 2025
Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.
López Rivera JJ et al.
Journal of Personalized Medicine, 2024
Acquired cystic disease associated renal cell carcinoma: A clinicopathologic and molecular study of 31 tumors.
Palathingal Bava E et al.
Human Pathology, 2024
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
Cellular and molecular functions of SETD2 in the central nervous system.
Mitchell B et al.
Journal of Cell Science, 2023
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.
Parra A et al.
Genes, 2023
Clinical and genetic features of luscan-lumish syndrome associated with a novel de novo variant of SETD2 gene: Case report and literature review.
Zhang Y et al.
Frontiers in Genetics, 2023
A novel SETD2 variant causing global development delay without overgrowth in a Chinese 3-year-old boy.
Wu Y et al.
Frontiers in Genetics, 2023
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.
Arteche-López A et al.
Genes, 2021
Proposal and validation of a method to classify genetic subtypes of diffuse large B cell lymphoma.
Pedrosa L et al.
Scientific Reports, 2021
Genotype-phenotype correlation at codon 1740 of SETD2.
Rabin R et al.
American Journal of Medical Genetics. Part A, 2020
SETD2 mutations in primary central nervous system tumors.
Viaene AN et al.
Acta Neuropathologica Communications, 2018
Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.
van Rij MC et al.
American Journal of Medical Genetics. Part A, 2018
Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.
Lumish HS et al.
Journal of Autism and Developmental Disorders, 2015