Associated Papers
Evolution of AR and non-AR alterations in circulating tumor DNA of metastatic prostate cancer patients treated in the phase 3 Alliance A031201 trial.
Valentín López JC et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2026
Alterations in DNA Damage Repair Genes Before and After Neoadjuvant Cisplatin-based Chemotherapy in Muscle-invasive Bladder Cancer.
Lemberger U et al.
European Urology Open Science, 2025
AR alterations inform circulating tumor DNA detection in metastatic castration resistant prostate cancer patients.
Knutson TP et al.
Nature Communications, 2024
Genomic instability in congenital lung malformations in children.
Rodrigues de Moura R et al.
Pediatric Surgery International, 2024
Identification of Novel Potential Predisposing Variants in Familial Acute Myeloid Leukemia.
Ronchini C et al.
Cancer Reports (hoboken, N.j.), 2024
Comprehensive Genomic Characterization in Ovarian Low-Grade and Chemosensitive and Chemoresistant High-Grade Serous Carcinomas.
Jaliffa C et al.
Oncology, 2024
Establishment and Thorough Characterization of Xenograft (PDX) Models Derived from Patients with Pancreatic Cancer for Molecular Analyses and Chemosensitivity Testing.
Behrens D et al.
Cancers, 2023
Co-evolution of AR gene copy number and structural complexity in endocrine therapy resistant prostate cancer.
Zivanovic A et al.
Nar Cancer, 2023
Metastasising ameloblastoma or ameloblastic carcinoma? A case report with mutation analyses.
Hurník P et al.
Bmc Oral Health, 2023
Hypomorphic Brca2 and Rad51c double mutant mice display Fanconi anemia, cancer and polygenic replication stress.
Tomaszowski KH et al.
Nature Communications, 2023
Utilization of cytologic cell blocks for targeted sequencing of solid tumors.
Vormittag-Nocito E et al.
Cancer Medicine, 2023
RosettaDDGPrediction for high-throughput mutational scans: From stability to binding.
Sora V et al.
Protein Science : a Publication of the Protein Society, 2023
Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair.
Peake JD et al.
Human Genetics, 2022
Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.
Nazarenko MS et al.
International Journal of Molecular Sciences, 2022
Germline mutation landscape of DNA damage repair genes in African Americans with prostate cancer highlights potentially targetable RAD genes.
Kohaar I et al.
Nature Communications, 2022
Germline variant screening with targeted next generation sequencing in prostate cancer: phenotype-genotype correlation.
Çakır AY et al.
Turkish Journal of Medical Sciences, 2022
Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.
Fidalgo F et al.
Plos One, 2022
A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects.
George M et al.
Human Mutation, 2021
The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.
Thompson AS et al.
Molecular Genetics & Genomic Medicine, 2021
Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
Song H et al.
Journal of Medical Genetics, 2021
Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.
Moradian MM et al.
Human Genome Variation, 2021
Severe telomere shortening in Fanconi anemia complementation group L.
Shah A et al.
Molecular Biology Reports, 2021
Genomics of lethal prostate cancer at diagnosis and castration resistance.
Mateo J et al.
The Journal of Clinical Investigation, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Clinical Exome Sequencing unravels new disease-causing mutations in the myeloproliferative neoplasms: A pilot study in patients from the state of Qatar.
Al-Dewik N et al.
Gene, 2019
Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer.
Leong TL et al.
Oncogene, 2019
The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.
Muscat AM 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
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.
Castellanos E et al.
Scientific Reports, 2017
A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.
Lu C et al.
Cold Spring Harbor Molecular Case Studies, 2016
FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients.
Solanki A et al.
Plos One, 2016
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
Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia.
Rickman KA et al.
Cell Reports, 2015
Targeted genomic analysis of Müllerian adenosarcoma.
Howitt BE et al.
The Journal of Pathology, 2015
Genetic counseling for Fanconi anemia: crosslinking disciplines.
Zierhut HA et al.
Journal of Genetic Counseling, 2014
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.
De Rocco D et al.
Haematologica, 2014
Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population.
Litim N et al.
Molecular Oncology, 2013
Mutations in Fanconi anemia genes and the risk of esophageal cancer.
Akbari MR et al.
Human Genetics, 2011
Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.
Castella M et al.
Blood, 2011
Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry.
Tamary H et al.
Haematologica, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Phenotyping genetic diseases using an extension of mu-scores for multivariate data.
Morales JF et al.
Statistical Applications in Genetics and Molecular Biology, 2008