Trial reportHaematologica2019
Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.
Erratum issuedOpen access · goldAbstract readClinical TrialMulticenter Study
In one paragraph
Trial report in Haematologica, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 19 papers.
0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
2.1field-weighted citation impact, top 13% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 35 citations in OpenAlex.
- Prenatal Diagnosis of a Fetus With Congenital Malformations Caused by Compound Heterozygous Mutations in FANCA: A Case Report and Literature Review.Molecular genetics & genomic medicine · 2026Review
- Comprehensive evidence for the pathogenicity of theJournal of medical genetics · 2026Article
- Fanconi Anemia in Mexican Patients: Molecular Spectrum and Clinical Manifestations in a Case Series.International journal of molecular sciences · 2026Article
- FANCI: from genome guardian to translational therapeutic target.Frontiers in oncology · 2026Review
- Two-hit events occurred independently in bilateral breast cancers in a germline double heterozygous carrier for BRCA1 and BRCA2.Breast cancer (Tokyo, Japan) · 2025Article
- Comprehensive review on Fanconi anemia: insights into DNA interstrand cross-links, repair pathways, and associated tumors.Orphanet journal of rare diseases · 2025Review
- Unveiling a pathogenicExperimental and therapeutic medicine · 2025Article
- DNA phenotyping and mapping intragenic deletion mutations in Fanconi anemia: Patterns and diagnostic inferences.Journal, genetic engineering & biotechnology · 2024Article
- Clinicopathological Features and Oncological Outcomes of Germline Partner and Localizer of Breast Cancer 2-Mutated Breast Cancer in Korea.Journal of breast cancer · 2024Article
- The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition.Cancer science · 2023Article
- Fanconi anemia caused by biallelic inactivation of BRCA2 can present with an atypical cancer phenotype in adulthood.Clinical genetics · 2023Article
- Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.Frontiers in oncology · 2022Review
- Genotype-cancer association in patients with Fanconi anemia due to pathogenic variants in FANCD1 (BRCA2) or FANCN (PALB2).Cancer genetics · 2021Article
- Spectrum of Germline Mutations Within Fanconi Anemia-Associated Genes Across Populations of Varying Ancestry.JNCI cancer spectrum · 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
- Canonical and Noncanonical Roles of Fanconi Anemia Proteins: Implications in Cancer Predisposition.Cancers · 2020Review
- Article
- A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India.Human mutation · 2020Article
- NovelMolecular cytogenetics · 2020Article
Corrections and comments
- Erratum issued
Authors and funding
28 authors at 13 institutions in 2 countries.
Minako MoriLaboratory of DNA Damage Signaling, Department of Late Effects Studies, Radiation Biology Center, Graduate School of Biostudies, Kyoto University, Kyoto, Japan.
Asuka HiraLaboratory of DNA Damage Signaling, Department of Late Effects Studies, Radiation Biology Center, Graduate School of Biostudies, Kyoto University, Kyoto, Japan.
Kenichi YoshidaDepartment of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Hideki MuramatsuDepartment of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Yusuke OkunoDepartment of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Yuichi ShiraishiLaboratory of DNA Information Analysis, Human Genome Center, The Institute of Medical Science, University of Tokyo, Tokyo Japan.
Michiko AnmaeMedical Genetics Laboratory, Graduate School of Science and Engineering, Kindai University, Osaka, Japan.
Jun YasudaTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Shu TadakaTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Kengo KinoshitaTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Tomoo OsumiChildren's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
Yasushi NoguchiDepartment of Pediatrics, Japanese Red Cross Narita Hospital, Chiba, Japan.
Souichi AdachiDepartment of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Ryoji KobayashiDepartment of Pediatrics and Adolescence, Sapporo Hokuyu Hospital, Sapporo, Japan.
Hiroshi KawabataDepartment of Hematology and Immunology, Kanazawa Medical University, Uchinada-machi, Japan.
Kohsuke ImaiDepartment of Community Pediatrics, Perinatal and Maternal Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
Tomohiro MorioDepartment of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Kazuo TamuraMedical Genetics Laboratory, Graduate School of Science and Engineering, Kindai University, Osaka, Japan.
Akifumi Takaori-KondoDepartment of Hematology and Oncology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Masayuki YamamotoTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Satoru MiyanoLaboratory of DNA Information Analysis, Human Genome Center, The Institute of Medical Science, University of Tokyo, Tokyo Japan.
Seiji KojimaDepartment of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Etsuro ItoDepartment of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Seishi OgawaDepartment of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Keitaro MatsuoDivision of Molecular and Clinical Epidemiology, Aichi Cancer Center Research Institute, Nagoya, Japan.
Hiromasa YabeDepartment of Innovative Medical Science, Tokai University School of Medicine, Isehara, Kanagawa, Japan.
Miharu YabeDepartment of Innovative Medical Science, Tokai University School of Medicine, Isehara, Kanagawa, Japan miharu@is.icc.u-tokai.ac.jp.
Minoru TakataLaboratory of DNA Damage Signaling, Department of Late Effects Studies, Radiation Biology Center, Graduate School of Biostudies, Kyoto University, Kyoto, Japan mtakata@house.rbc.kyoto-u.ac.jp.
Kyoto University · JPTohoku Medical Megabank Organization · JPNagoya University · JPKindai University · JPTokai University · JPTokyo Medical and Dental University · JPTokyo University of Science · JPAichi Cancer Center · JPHirosaki University · JPJapanese Red Cross Narita Hospital · JPKanazawa Medical University · JPNational Center For Child Health and Development · JPSapporo Hokuyu Hospital · JP
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fanconi anemia is a rare recessive disease characterized by multiple congenital abnormalities, progressive bone marrow failure, and a predisposition to malignancies. It results from mutations in one of the 22 known
Indexed as
MutationFanconi AnemiaFanconi Anemia Complementation Group ProteinsFemaleGenome-Wide Association StudyHumansJapanMaleFanconi Anemia Complementation Group Proteins
Identifiers
What OpenQuestion holds
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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.