ArticleMolecular genetics & genomic medicine2017
SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.
Article in Molecular genetics & genomic medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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
32 citing papers in PubMed, 49 citations in OpenAlex.
- Diagnostic yield of cancer predisposition in a nationwide prospective childhood acute leukemia cohort.Nature communications · 2026Article
- Exploring the effects of missense mutations on protein thermodynamics through structure-based approaches: findings from the CAGI6 challenges.Human genetics · 2025Article
- SDHA-related phaeochromocytoma and paraganglioma: review and clinical management.Endocrine-related cancer · 2024Review
- Knowledge-Based Therapeutics for Tricarboxylic Acid (TCA) Cycle-Deficient Cancers.Cold Spring Harbor perspectives in medicine · 2024Review
- Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.Human molecular genetics · 2024Article
- Article
- AI-Driven Enhancements in Drug Screening and Optimization.Methods in molecular biology (Clifton, N.J.) · 2024Article
- UK recommendations forJournal of medical genetics · 2023Article
- Using Graph-Based Signatures to Guide Rational Antibody Engineering.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Systematic evaluation of computational tools to predict the effects of mutations on protein stability in the absence of experimental structures.Briefings in bioinformatics · 2022Article
- mmCSM-PPI: predicting the effects of multiple point mutations on protein-protein interactions.Nucleic acids research · 2021Article
- Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2.European journal of human genetics : EJHG · 2021Article
- Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.Molecular genetics & genomic medicine · 2021Article
- DynaMut2: Assessing changes in stability and flexibility upon single and multiple point missense mutations.Protein science : a publication of the Protein Society · 2021Article
- Distinguishing between PTEN clinical phenotypes through mutation analysis.Computational and structural biotechnology journal · 2021Article
- SDHB and SDHA Immunohistochemistry in Canine Pheochromocytomas.Animals : an open access journal from MDPI · 2020Article
- mCSM-membrane: predicting the effects of mutations on transmembrane proteins.Nucleic acids research · 2020Article
- Clinical implications of the oncometabolite succinate in SDHx-mutation carriers.Clinical genetics · 2020Review
- First-positive surveillance screening in an asymptomatic SDHA germline mutation carrierEndocrinology, diabetes & metabolism case reports · 2019Article
- Interaction of germline variants in a family with a history of early-onset clear cell renal cell carcinoma.Molecular genetics & genomic medicine · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors at 10 institutions in 3 countries.
Funding
Abstract
purposeTo evaluate the role of germline PATIENTS AND
methodsA systematic literature review and a retrospective review of the molecular and clinical features of patients identified with putative germline variants in UK molecular genetic laboratories was performed. To evaluate the molecular consequences of
resultsLiterature review revealed reports of 17 different germline
conclusionThe clinical spectrum of
Indexed as
Identifiers
What OpenQuestion holds
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.