ReviewMolecular syndromology2018
A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing.
Review in Molecular syndromology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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.
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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.
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Who cites it
20 citing papers in PubMed, 47 citations in OpenAlex.
- Dominant-negative effects of Weaver syndrome-associated EZH2 variants.Genes & development · 2025Article
- Microdeletion 3q13.2q21.2 in a Patient Previously Diagnosed with MOMO Syndrome.Molecular syndromology · 2024Article
- Macrocephaly and Finger Changes: A Narrative Review.International journal of molecular sciences · 2024Review
- Polycomb-mediated silencing of miR-8 is required for maintenance of intestinal stemness in Drosophila melanogaster.Nature communications · 2024Article
- Report on a Case with Moreno-Nishimura-Schmidt Overgrowth Syndrome: A Clinically Delineated Disease Yet of an Unknown Origin!Molecular syndromology · 2023Article
- Neuroimaging features of genetic syndromes associated with CNS overgrowth.Pediatric radiology · 2022Review
- A Rare Case of an Asymmetric Overgrowth Syndrome in a Kenyan African Child: A Case Report and Review of Literature.Cureus · 2022Article
- The aetiology of extreme tall stature in a screened Finnish paediatric population.EClinicalMedicine · 2021Article
- Hypoglycemia due to PI3K/AKT/mTOR signaling pathway defects: two novel cases and review of the literature.Hormones (Athens, Greece) · 2021Review
- Sotos syndrome with a novel mutation in theInternational journal of pediatrics & adolescent medicine · 2021Article
- Fetal Growth Acceleration-Current Approach to the Big Baby Issue.Medicina (Kaunas, Lithuania) · 2021Review
- Targeting Metabolic Plasticity and Flexibility Dynamics for Cancer Therapy.Cancer discovery · 2020Review
- International consensus recommendations on the diagnostic work-up for malformations of cortical development.Nature reviews. Neurology · 2020Review
- Genetic variation associated with childhood and adult stature and risk of MYCN-amplified neuroblastoma.Cancer medicine · 2020Article
- Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.Orphanet journal of rare diseases · 2020Article
- Preclinical and Clinical Epigenetic-Based Reconsideration of Beckwith-Wiedemann Syndrome.Frontiers in genetics · 2020Review
- Overgrowth Syndrome.The Veterinary clinics of North America. Food animal practice · 2019Review
- Tall Stature: A Challenge for Clinicians.Current pediatric reviews · 2019Review
- Overgrowth syndromes and pediatric cancers: how many roads lead toGenes & development · 2018Article
- Epilepsy and overgrowth-intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment.Therapeutic advances in rare diseaseReview
Corrections and comments
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Authors and funding
9 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The overgrowth syndromes are important to diagnose, not just for accurate genetic counseling, but also for knowledge surrounding cancer surveillance and prognosis. There has been a recent expansion in the number of genes associated with a mendelian overgrowth phenotype, so this review updates previous classifications of overgrowth syndromes. We also describe a clinical and molecular approach to the investigation of individuals presenting with overgrowth. This review aims to assist the clinical diagnosis of generalized overgrowth syndromes by outlining the salient features of well-known overgrowth syndromes alongside the many syndromes that have been discovered and classified more recently. We provide key clinical "handles" to aid clinical diagnosis and a list of genes to aid with panel design when using next generation sequencing, which we believe is frequently needed due to the overlapping phenotypic features seen between overgrowth syndromes.
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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.