ArticleAmerican journal of human genetics2019
Distinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome.
Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Behavioural and psychological features of PTEN mutations: a systematic review of the literature and meta-analysis of the prevalence of autism spectrum disorder characteristics.Journal of neurodevelopmental disorders · 2022Pooled it
- Genomic modifiers of malignant and neurodevelopmental phenotypes in individuals with PTEN hamartoma tumor syndrome.NPJ genomic medicine · 2026Article
- Bannayan-Riley-Ruvalcaba syndrome, etiology, clinical manifestations, diagnostic approaches, and current therapeutic measures: a narrative review.Discover oncology · 2025Review
- The causal association between psychiatric disorders and gynecological cancer: a bidirectional Mendelian randomization study.Discover oncology · 2025Article
- [Thyroid cancer in a child with Cowden syndrome].Problemy endokrinologii · 2024Article
- Article
- The mitochondrial genome as a modifier of autism versus cancer phenotypes inHGG advances · 2023Article
- Hamartomatous polyps: Diagnosis, surveillance, and management.World journal of gastroenterology · 2023Review
- Neuroinflammation, Energy and Sphingolipid Metabolism Biomarkers Are Revealed by Metabolic Modeling of Autistic Brains.Biomedicines · 2023Article
- Distinct metabolic profiles associated with autism spectrum disorder versus cancer in individuals with germline PTEN mutations.NPJ genomic medicine · 2022Article
- Maternal Plasma Metabolic Profile Demarcates a Role for Neuroinflammation in Non-Typical Development of Children.Metabolites · 2021Article
- Metabolic Shifts as the Hallmark of Most Common Diseases: The Quest for the Underlying Unity.International journal of molecular sciences · 2021Article
- Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism.Molecular autism · 2021Article
- Plasma Metabolome Signature Indicative ofFrontiers in oncology · 2021Article
- A Metabolomics Approach to Screening for Autism Risk in the Children's Autism Metabolome Project.Autism research : official journal of the International Society for Autism Research · 2020Article
- Recent advances in PTEN signalling axes in cancer.Faculty reviews · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Germline heterozygous PTEN mutations cause subsets of Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS); these subsets are characterized by high risks of breast, thyroid, and other cancers and, in one subset, autism spectrum disorder (ASD). Up to 10% of individuals with PTEN
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.