Associated Papers
Predictive genomic medicine enlarges the spectrum of predisposing mutations for head and neck cancers via a panel of 56 genes selected for human neoplasia in Southern Italy: a pilot study.
Di Maggio F et al.
Clinical Chemistry and Laboratory Medicine, 2026
Germline variants observed in pediatric cancer patients related to hereditary breast and ovarian cancer in adults.
Daugs K et al.
International Journal of Cancer, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.
Fasching PA et al.
Npj Breast Cancer, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy.
Yu K et al.
Blood Advances, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Efficacy of Dabrafenib and Trametinib in a Patient with Squamous-Cell Carcinoma, with Mutation p.D594G in BRAF and p.R461* in NF1 Genes-A Case Report with Literature Review.
Grenda A et al.
International Journal of Molecular Sciences, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
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
Molecular profiling of basal cell carcinomas in young patients.
Abi Karam M et al.
Bmc Medical Genomics, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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
Comprehensive genomic profiling of 295 cases of clinically advanced urothelial carcinoma of the urinary bladder reveals a high frequency of clinically relevant genomic alterations.
Ross JS et al.
Cancer, 2016
Update of the human and mouse Fanconi anemia genes.
Dong H et al.
Human Genomics, 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
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
Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs.
Hartmann L et al.
American Journal of Human Genetics, 2010
Genotype-phenotype correlations in Fanconi anemia.
Neveling K et al.
Mutation Research, 2009
Constitutional sequence variation in the Fanconi anaemia group C (FANCC) gene in childhood acute myeloid leukaemia.
Barber LM et al.
British Journal of Haematology, 2003
A 20-year perspective on the International Fanconi Anemia Registry (IFAR).
Kutler DI et al.
Blood, 2003
Current knowledge on the pathophysiology of Fanconi anemia: from genes to phenotypes.
Yamashita T et al.
International Journal of Hematology, 2001
Evaluation of growth and hormonal status in patients referred to the International Fanconi Anemia Registry.
Wajnrajch MP et al.
Pediatrics, 2001
The IVS4 + 4 A to T mutation of the fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients.
Futaki M et al.
Blood, 2000
Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study.
Gillio AP et al.
Blood, 1997
Interstitial lung disease in an adult with Fanconi anemia: clues to the pathogenesis.
Rubinstein WS et al.
American Journal of Medical Genetics, 1997
High throughput parallel analysis of hundreds of patient samples for more than 100 mutations in multiple disease genes.
Shuber AP et al.
Human Molecular Genetics, 1997
Fanconi anemia: genetic testing in Ashkenazi Jews.
Auerbach AD
Genetic Testing, 1997
Novel mutations and polymorphisms in the Fanconi anemia group C gene.
Gibson RA et al.
Human Mutation, 1996
Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population.
Verlander PC et al.
Blood, 1995
Fanconi anemia and moyamoya: evidence for an association.
Pavlakis SG et al.
Neurology, 1995
Fanconi anaemia research: current status and prospects.
Joenje H et al.
European Journal of Cancer (oxford, England : 1990), 1995
Mutation analysis of the Fanconi anemia gene FACC.
Verlander PC et al.
American Journal of Human Genetics, 1994
FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia.
Murer-Orlando M et al.
Lancet (london, England), 1993