Associated Papers
Tracking Cytopenias in FANCA-deficient Fanconi Anemia.
Maxwell RR et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Patient-Derived Xenograft Models of Fanconi Anemia-Associated Head and Neck Cancer Identify Personalized Therapeutic Strategies.
Grandis J et al.
The Journal of Clinical Investigation, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
The Converging Roles of Nucleases and Helicases in Genome Maintenance and the Aging Process.
Margariti A et al.
Life (basel, Switzerland), 2025
Genetic correlates of malignancy in TFE3-rearranged PEComa: a series of 14 cases.
Papke DJ et al.
Histopathology, 2025
Insights into Fanconi Anemia Based on Molecular and Clinical Characteristics: A Multicentre Study of 13 Patients.
Saranti S et al.
Children (basel, Switzerland), 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Germline pathogenic variants in DNA repair pathways: a key feature in a significant subset of translocation-associated sarcomas.
Saoud C et al.
Npj Precision Oncology, 2025
Prognostic significance of mutation type and chromosome fragility in Fanconi anemia.
Ramírez MJ et al.
American Journal of Hematology, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.
Nesic K et al.
Molecular Cancer, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.
Han SH et al.
European Urology Open Science, 2024
Gastric cancer with Fanconi anemia in adolescent and young adult patient diagnosed by comprehensive genome profiling using next-generation sequencing.
Namikawa T et al.
Clinical Journal of Gastroenterology, 2024
BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.
Nesic K et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Sertoli cell-only syndrome: advances, challenges, and perspectives in genetics and mechanisms.
Wang X et al.
Cellular and Molecular Life Sciences : Cmls, 2023
Investigation of mutations in Fanconi anemia genes and malignancy predisposition in Brazilian patients.
Pillonetto DV et al.
International Journal of Laboratory Hematology, 2023
Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.
Han S et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
The microtubule inhibitor eribulin demonstrates efficacy in platinum-resistant and refractory high-grade serous ovarian cancer patient-derived xenograft models.
Ho GY et al.
Therapeutic Advances in Medical Oncology, 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
Adenine base editing efficiently restores the function of Fanconi anemia hematopoietic stem and progenitor cells.
Siegner SM et al.
Nature Communications, 2022
Somatic mosaicism in patients with Fanconi anaemia: Proposal of alternative tissue for inconclusive diagnoses.
Oliveira Pereira C et al.
International Journal of Laboratory Hematology, 2022
Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children.
Gilad O et al.
Haematologica, 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 Gene Variants in Patients with Gonadal Dysfunction.
Daum H et al.
Reproductive Sciences (thousand Oaks, Calif.), 2022
The neglected members of the family: non-BRCA mutations in the Fanconi anemia/BRCA pathway and reproduction.
Vanni VS et al.
Human Reproduction Update, 2022
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.
Newman S et al.
Cancer Discovery, 2021
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
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
De La Vega FM et al.
Genome Medicine, 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
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
Shickh S et al.
Journal of Medical Genetics, 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
Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.
Bakouny Z et al.
Nature Communications, 2021
FANCA Gene Mutations in North African Fanconi Anemia Patients.
Ben Haj Ali A et al.
Frontiers in Genetics, 2021
Next-Generation Sequencing Reveals a Very Low Prevalence of Deleterious Mutations of Homologous Recombination Repair Genes and Homologous Recombination Deficiency in Ovarian Clear Cell Carcinoma.
Liu H et al.
Frontiers in Oncology, 2021