Associated Papers
Comparison of Familial and Sporadic Pancreatic Cancer: Clinicopathological and Genomic Features.
Miura Y et al.
Annals of Surgical Oncology, 2026
Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.
Nakata E et al.
Cancer Science, 2026
The Converging Roles of Nucleases and Helicases in Genome Maintenance and the Aging Process.
Margariti A et al.
Life (basel, Switzerland), 2025
Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons.
Taniguchi K et al.
Molecular Genetics & Genomic Medicine, 2025
Evaluation of whole genome sequencing utility in identifying driver alterations in cancer genome.
Nagashima T et al.
Scientific Reports, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Integrated proteogenomic analysis for inherited bone marrow failure syndrome.
Wakamatsu M et al.
Leukemia, 2024
ELK3 destabilization by speckle-type POZ protein suppresses prostate cancer progression and docetaxel resistance.
Lee CJ et al.
Cell Death & Disease, 2024
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Fanconi Anemia Patients from an Indigenous Community in Mexico Carry a New Founder Pathogenic Variant in FANCG.
Reyes P et al.
International Journal of Molecular Sciences, 2022
Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.
Choi YY et al.
Scientific Reports, 2021
Clinically Advanced Pheochromocytomas and Paragangliomas: A Comprehensive Genomic Profiling Study.
Bratslavsky G et al.
Cancers, 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
Spectrum of Germline Mutations Within Fanconi Anemia-Associated Genes Across Populations of Varying Ancestry.
Chan SH et al.
Jnci Cancer Spectrum, 2021
Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.
Mori M et al.
Haematologica, 2020
Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.
Mori M et al.
Haematologica, 2019
Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.
Lee JW et al.
Plos One, 2019
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.
Muramatsu H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Screening for mutations in two exons of FANCG gene in Pakistani population.
Aymun U et al.
Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2017
Characterization of two novel FANCG mutations in Indian Fanconi anemia patients.
Solanki A et al.
Leukemia Research, 2017
Founder haplotype analysis of Fanconi anemia in the Korean population finds common ancestral haplotypes for a FANCG variant.
Park J et al.
Annals of Human Genetics, 2015
Genetic counseling for Fanconi anemia: crosslinking disciplines.
Zierhut HA et al.
Journal of Genetic Counseling, 2014
Current insights into inherited bone marrow failure syndromes.
Chung NG et al.
Korean Journal of Pediatrics, 2014
FANCA and FANCG are the major Fanconi anemia genes in the Korean population.
Park J et al.
Clinical Genetics, 2013
Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.
Gille JJ et al.
Anemia, 2012
[Mechanisms of genomic instability in Fanconi anemia].
Itaya A et al.
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 2010
Two common founder mutations of the fanconi anemia group G gene FANCG/XRCC9 in the Japanese population.
Yagasaki H et al.
Human Mutation, 2003
Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study.
Auerbach AD et al.
Human Mutation, 2003
[Fanconi anemia].
Bessho F
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2000