Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
Genetic insights and diagnostic challenges in inherited bone marrow failure syndromes: a comprehensive study from a low middle-income country.
Bukhari SI et al.
Expert Review of Hematology, 2025
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.
Salani F et al.
Esmo Open, 2025
Pathogenic FANCC Variants Are Associated with Accessory Breasts in a Sub-Saharan African Multiplex Family.
Danbaki AS et al.
Current Issues in Molecular Biology, 2025
Germline mutation analysis and postoperative recurrence risk prediction in breast cancer patients from western China.
Deng Z et al.
Translational Oncology, 2025
Development of translational read-through-inducing drugs as novel therapeutic options for patients with Fanconi anemia.
Hristodor AM et al.
Cell Death Discovery, 2025
Germline variants in patients diagnosed with pediatric soft tissue sarcoma.
Yndestad S et al.
Acta Oncologica (stockholm, Sweden), 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
Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry.
Llorin H et al.
Genetics in Medicine Open, 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
High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations.
Belanger Deloge R et al.
European Journal of Human Genetics : Ejhg, 2023
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Sy MR et al.
American Journal of Medical Genetics. Part A, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis-Further Impact of Heterozygous Immune Disorder Gene Variants?
Seidel F et al.
Journal of Cardiovascular Development and Disease, 2022
The Fanconi anemia pathway and Breast Cancer: A comprehensive review of clinical data.
Gianni P et al.
Clinical Breast Cancer, 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
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.
Williams EA et al.
Acta Neuropathologica Communications, 2020
Pathogenic germline variants are associated with poor survival in stage III/IV melanoma patients.
Aoude LG et al.
Scientific Reports, 2020
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
Pathogenic Germline Mutations in DNA Repair Genes in Combination With Cancer Treatment Exposures and Risk of Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer.
Qin N et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.
Nassar AH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Retrospective review of outcomes in patients with DNA-damage repair related pancreatic cancer.
Macklin-Mantia SK et al.
Hereditary Cancer in Clinical Practice, 2020
Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.
Mori M et al.
Haematologica, 2019
Two truncating variants in FANCC and breast cancer risk.
Dörk T et al.
Scientific Reports, 2019
Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia.
Maung KZY et al.
Blood Cancer Journal, 2018
Genetic Gastric Cancer Susceptibility in the International Clinical Cancer Genomics Community Research Network.
Slavin T et al.
Cancer Genetics, 2017
Analysis of FANCC gene mutations (IVS4+4A>T, del322G, and R548X)in patients with Fanconi anemia in Pakistan.
Aftab I et al.
Turkish Journal of Medical Sciences, 2017
Update of the human and mouse Fanconi anemia genes.
Dong H et al.
Human Genomics, 2015
Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer.
de Voer RM et al.
Scientific Reports, 2015
The Fanconi anemia pathway has a dual function in Dickkopf-1 transcriptional repression.
Huard CC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
Detection of carriers in the Ashkenazi Jewish population: an objective comparison of high-throughput genotyping versus gene-by-gene testing.
Klugman S et al.
Genetic Testing and Molecular Biomarkers, 2013
Current clinical management of Fanconi anemia.
Smith AR et al.
Expert Review of Hematology, 2012
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