ArticleJournal of the Endocrine Society2020
Aberrant Splicing of
Article in Journal of the Endocrine Society, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 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
12 citing papers in PubMed, 14 citations in OpenAlex.
- Genetic testing in pituitary adenomas: a Pituitary Society International Consensus Statement.Nature reviews. Endocrinology · 2026Review
- The germline landscape of pituitary adenomas: established and emerging predisposition genes.The Journal of clinical endocrinology and metabolism · 2026Review
- A contemporary overview of multiple endocrine neoplasia syndromes: MEN syndromes 1-5 and beyond.Endocrine oncology (Bristol, England) · 2026Review
- The landscape of germline variants in breast and colorectal cancer susceptibility genes in patients with pituitary tumours.Journal of neuro-oncology · 2025Article
- Improving detection of monogenic diabetes through reanalysis of GCK variants of uncertain significance.Acta diabetologica · 2025Article
- Genetic and Functional Changes in Mitochondria in the Pituitary Adenoma: The Pathogenesis and Its Therapy.Antioxidants (Basel, Switzerland) · 2024Review
- Rewiring of RNA methylation by the oncometabolite fumarate in renal cell carcinoma.NAR cancer · 2024Article
- Update on the genetics of paragangliomas.Endocrine-related cancer · 2023Review
- Succinate dehydrogenase and MYC-associated factor X mutations in pituitary neuroendocrine tumours.Endocrine-related cancer · 2022Review
- A contemporary clinical approach to genetic testing for heritable hyperparathyroidism syndromes.Endocrine · 2022Review
- Exploring the Leukemogenic Potential of GATA-1Antioxidants (Basel, Switzerland) · 2021Article
- Aberrant Splicing ofJournal of the Endocrine Society · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
contextGermline mutations in the succinate dehydrogenase genes (
methodsWe performed whole-exome sequencing (WES) of germline and tumor DNA followed by Sanger sequencing validation, transcriptome analysis, metabolomic studies, and haplotype analysis in 2 Italian-Australian families with SDH-deficient PGLs and various neoplasms, including RCC, GIST, and PA.
resultsGermline WES revealed a novel
conclusionsThis is the deepest intronic variant to be reported among the
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.