ArticleCurrent genetic medicine reports2016
Expansion of the RASopathies.
Article in Current genetic medicine reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 2 of them syntheses that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
47 citing papers in PubMed, 2 syntheses or guidelines pooled it, 110 citations in OpenAlex.
- Cancer in Costello syndrome: a systematic review and meta-analysis.British journal of cancer · 2023Pooled it
- ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Guideline
- Article
- Article
- Molecular characterization of individuals with RASopathies: Spectrum of genetic variants in a large Indian cohort.Journal of genetics · 2026Article
- Genotype-phenotype correlations with autism spectrum disorder-related traits in noonan syndrome and noonan syndrome with multiple lentigines: a cross-sectional study.Molecular autism · 2025Article
- Article
- Epigenetic modulation rescues neurodevelopmental deficits in Syngap1Aging cell · 2025Article
- Germline activating sequence variations in RASopathy spectrum genes: genotype-phenotype correlation in a North Indian cohort.Frontiers in genetics · 2025Article
- Elucidating Microstructural Alterations in Neurodevelopmental Disorders: Application of Advanced Diffusion-Weighted Imaging in Children With Rasopathies.Human brain mapping · 2024Article
- Non-Mammalian Models for Understanding Neurological Defects in RASopathies.Biomedicines · 2024Review
- SynGAP regulates synaptic plasticity and cognition independently of its catalytic activity.Science (New York, N.Y.) · 2024Article
- Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.American journal of medical genetics. Part A · 2024Article
- Cognitive Phenotype and Psychopathology in Noonan Syndrome Spectrum Disorders through Various Ras/MAPK Pathway Associated Gene Variants.Journal of clinical medicine · 2022Article
- The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.Nature communications · 2022Article
- Lymphatic Phenotype of Noonan Syndrome: Innovative Diagnosis and Possible Implications for Therapy.Journal of clinical medicine · 2022Review
- The RASopathies: from pathogenetics to therapeutics.Disease models & mechanisms · 2022Review
- Endocrine system involvement in patients with RASopathies: A case series.Frontiers in endocrinology · 2022Article
- Review
- Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity.Orphanet journal of rare diseases · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
The Ras/mitogen activated protein kinase (MAPK) pathway is essential in the regulation of cell cycle, differentiation, growth, cell senescence and apoptosis, all of which are critical to normal development. A class of neurodevelopmental disorders, RASopathies, is caused by germline mutations in genes of the Ras/MAPK pathway. Through the use of whole exome sequencing and targeted sequencing of selected genes in cohorts of panel-negative RASopathy patients, several new genes have been identified. These include:
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.