ArticleAmerican journal of medical genetics. Part C, Seminars in medical genetics2019
Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management.
Article in American journal of medical genetics. Part C, Seminars in medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 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.
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.
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Who cites it
55 citing papers in PubMed, 111 citations in OpenAlex.
- Functional evaluation of pancreatic islets from patients with Beckwith-Wiedemann syndrome and congenital hyperinsulinism.The Journal of clinical endocrinology and metabolism · 2026Article
- Determinants of hyperinsulinism severity in children with Beckwith-Wiedemann syndrome.The Journal of clinical endocrinology and metabolism · 2026Article
- Article
- Recent advances in neonatal Beckwith-Wiedemann syndrome: from molecular diagnosis to multidisciplinary management-a narrative review.Translational pediatrics · 2026Review
- A novel maternally inherited CDKN1C variant in a familial beckwith-wiedemann syndrome case: expanding the genotype-phenotype spectrum.BMC medical genomics · 2026Article
- Phenotypic spectrum of 11p15.5 duplications: parent-of-origin and copy number variant size shape outcomes from Silver-Russell to Beckwith-Wiedemann syndromes.Human genomics · 2026Article
- Diagnostic limitations of routine low-coverage CNV-seq in detecting mosaic paternal uniparental disomy in Beckwith-Wiedemann syndrome: a case report.Frontiers in medicine · 2026Article
- Characterization of placental pathology in Beckwith-Wiedemann Syndrome due to alterations in the KCNQ1OT1:TSS-DMR region.Placenta · 2025Article
- Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association.Italian journal of pediatrics · 2025Review
- Review
- (Epi)genotype-phenotype correlations of Beckwith-Wiedemann syndrome in China.Italian journal of pediatrics · 2025Article
- Clinical phenotype and molecular genetic analysis of 24 cases of Beckwith-Wiedemann syndrome.Translational pediatrics · 2025Article
- Low-Level Mosaic GCK Mutations in Children With Diazoxide-Unresponsive Congenital Hyperinsulinism.The Journal of clinical endocrinology and metabolism · 2025Article
- Single-nucleus multiomic analysis of Beckwith-Wiedemann syndrome liver reveals PPARA signaling enrichment and metabolic dysfunction.Communications biology · 2025Article
- Case Report: Beckwith-Wiedemann syndrome with reducedFrontiers in pediatrics · 2025Article
- Update on Surveillance for Wilms Tumor and Hepatoblastoma in Beckwith-Wiedemann Syndrome and Other Predisposition Syndromes.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Review
- Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature review.American journal of medical genetics. Part A · 2024Review
- Molecular and Clinical Features of Adrenocortical Tumors in Beckwith-Wiedemann Spectrum.Cancers · 2024Article
- Morphometric measurements of intraoral anatomy in children with Beckwith-Wiedemann syndrome: a novel approach.Orphanet journal of rare diseases · 2024Article
- Joint effects of CD8A and ICOS in Long QT Syndrome (LQTS) and Beckwith-Wiedemann Syndrome (BWS).Journal of cardiothoracic surgery · 2024Article
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
Abstract
Beckwith-Wiedemann syndrome (BWS) is the most common epigenetic overgrowth and cancer predisposition disorder. Due to both varying molecular defects involving chromosome 11p15 and tissue mosaicism, patients can present with a variety of clinical features, leading to the newly defined Beckwith-Wiedemann spectrum (BWSp). The BWSp can be further divided into three subsets of patients: those presenting with classic features, those presenting with isolated lateralized overgrowth (ILO) and those not fitting into the previous two categories, termed atypical BWSp. Previous reports of patients with BWS have focused on those with the more recognizable, classic features, and limited information is available on those who fit into the atypical and ILO categories. Here, we present the first cohort of patients recruited across the entire BWSp, describe clinical features and molecular diagnostic characteristics, and provide insight into practical diagnosis and management recommendations that we have gained from this cohort.
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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.