Associated Papers
Evaluating the Effectiveness of Early Genetic Screening for Fanconi Anemia in High-Risk Pediatric Populations.
Al-Doski AAS
Molecular Genetics & Genomic Medicine, 2026
A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.
Héron D et al.
Brain : a Journal of Neurology, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Germinal mutations among patients with breast cancer in Colombia: is BRCA3 coming?
Rojas LXR et al.
Ecancermedicalscience, 2025
Case Report: Eltrombopag in mosaic and gene therapy-treated patients with Fanconi anemia.
Zubicaray J et al.
Frontiers in Pediatrics, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia.
Ramanagoudr-Bhojappa R et al.
Blood Advances, 2024
Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity.
Molteni E et al.
Blood, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.
Gounder MM et al.
Nature Communications, 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
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
Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
Cobain EF et al.
Jama Oncology, 2021
Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes.
Gálvez E et al.
Hemasphere, 2021
Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.
Ferrer-Avargues R et al.
Cancer Communications (london, England), 2021
Spectrum of Germline Mutations Within Fanconi Anemia-Associated Genes Across Populations of Varying Ancestry.
Chan SH et al.
Jnci Cancer Spectrum, 2021
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.
Bogliolo M et al.
Journal of Medical Genetics, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
Girard E et al.
International Journal of Cancer, 2019
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Lauhasurayotin S et al.
Npj Genomic Medicine, 2019
Clinical spectrum and clonal evolution in germline syndromes with predisposition to myeloid neoplasms.
Perez Botero J et al.
British Journal of Haematology, 2018
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.
Kimble DC et al.
Human Mutation, 2018
Integrative clinical genomics of metastatic cancer.
Robinson DR et al.
Nature, 2017
A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.
Pilonetto DV et al.
Molecular Genetics & Genomic Medicine, 2017
Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes.
Guidugli L et al.
Leukemia, 2017
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
Diagnosis of Fanconi anemia by diepoxybutane analysis.
Auerbach AD
Current Protocols in Human Genetics, 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
Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.
Gille JJ et al.
Anemia, 2012
Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.
Castella M et al.
Blood, 2011
Validation of Fanconi anemia complementation Group A assignment using molecular analysis.
Moghrabi NN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2009
Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.
Levran O et al.
Human Mutation, 2005
Diagnosis of fanconi anemia by diepoxybutane analysis.
Auerbach AD
Current Protocols in Human Genetics, 2003