ArticleAnemia2012
Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing.
Article in Anemia, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed, 57 citations in OpenAlex.
- Article
- DNA phenotyping and mapping intragenic deletion mutations in Fanconi anemia: Patterns and diagnostic inferences.Journal, genetic engineering & biotechnology · 2024Article
- Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis.Journal of medical genetics · 2023Article
- Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia.Orphanet journal of rare diseases · 2022Article
- The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.Molecular genetics & genomic medicine · 2021Review
- Article
- Clinical, cytogenetic and molecular findings in nine Moroccan patients with Fanconi anemia.The Pan African medical journal · 2021Article
- Fanconi Anemia: A Syndrome of Anemia and Skeletal Malformations Progressing to a Gene Network Involved in Genomic Stability and Malignant Disease.Molecular syndromology · 2020Article
- A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India.Human mutation · 2020Article
- Identification of Three Novel Mutations in theInternational journal of preventive medicine · 2020Article
- A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.Molecular genetics & genomic medicine · 2017Article
- [The progress of molecular genetics in bone marrow failure].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2017Article
- Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromes.International journal of hematology · 2016Review
- FANCI is a negative regulator of Akt activation.Cell cycle (Georgetown, Tex.) · 2016Article
- Update of the human and mouse Fanconi anemia genes.Human genomics · 2015Review
- Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.Molecular genetics & genomic medicine · 2015Article
- Altered PLP1 splicing causes hypomyelination of early myelinating structures.Annals of clinical and translational neurology · 2015Article
- Genetic counseling for Fanconi anemia: crosslinking disciplines.Journal of genetic counseling · 2014Review
- Current insights into inherited bone marrow failure syndromes.Korean journal of pediatrics · 2014Review
- Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.Haematologica · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fanconi anemia (FA) is a rare genetic instability syndrome characterized by developmental defects, bone marrow failure, and a high cancer risk. Fifteen genetic subtypes have been distinguished. The majority of patients (≈85%) belong to the subtypes A (≈60%), C (≈15%) or G (≈10%), while a minority (≈15%) is distributed over the remaining 12 subtypes. All subtypes seem to fit within the "classical" FA phenotype, except for D1 and N patients, who have more severe clinical symptoms. Since FA patients need special clinical management, the diagnosis should be firmly established, to exclude conditions with overlapping phenotypes. A valid FA diagnosis requires the detection of pathogenic mutations in a FA gene and/or a positive result from a chromosomal breakage test. Identification of the pathogenic mutations is also important for adequate genetic counselling and to facilitate prenatal or preimplantation genetic diagnosis. Here we describe and validate a comprehensive protocol for the molecular diagnosis of FA, based on massively parallel sequencing. We used this approach to identify BRCA2, FANCD2, FANCI and FANCL mutations in novel unclassified FA patients.
Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.