Associated Papers
Comparison of Familial and Sporadic Pancreatic Cancer: Clinicopathological and Genomic Features.
Miura Y et al.
Annals of Surgical Oncology, 2026
Clinical usefulness of next-generation sequencing-based target gene sequencing in diagnosis of inherited bone marrow failure syndrome.
Kwon YD et al.
Annals of Hematology, 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
Genomic alterations in two patients with esophageal carcinosarcoma identified by whole genome sequencing: a case report.
Inoue M et al.
Surgical Case Reports, 2024
Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project.
Shiota M et al.
Bjc Reports, 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
A comprehensive analysis of Fanconi anemia genes in Chinese patients with high-risk hereditary breast cancer.
Zhu QY et al.
Journal of Cancer Research and Clinical Oncology, 2023
Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients.
Suzuki Y et al.
Genes, 2023
Landscape of pathogenic mutations in premature ovarian insufficiency.
Ke H et al.
Nature Medicine, 2023
Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair.
Peake JD et al.
Human Genetics, 2022
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
Spectrum of Germline Mutations Within Fanconi Anemia-Associated Genes Across Populations of Varying Ancestry.
Chan SH et al.
Jnci Cancer Spectrum, 2021
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.
Mori M et al.
Haematologica, 2019
KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses.
Kim J et al.
Scientific Reports, 2018
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
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
[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
Alternative splicing: multiple control mechanisms and involvement in human disease.
Cáceres JF et al.
Trends in Genetics : Tig, 2002
[Fanconi anemia].
Bessho F
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2000
Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia.
Yamada T et al.
Journal of Human Genetics, 2000