ArticleEuropean journal of human genetics : EJHG2016
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed.
- Diagnosis and management of Silver-Russell syndrome: second international consensus statement.Nature reviews. Endocrinology · 2026Review
- Molecular characterization of imprinting disorders: Beckwith-Wiedemann, Silver-Russell, and Prader-Willi syndromes in Egyptian patients.BMC pediatrics · 2025Article
- Morphometric measurements of intraoral anatomy in children with Beckwith-Wiedemann syndrome: a novel approach.Orphanet journal of rare diseases · 2024Article
- p57International journal of molecular sciences · 2024Article
- Approach to the Patient With Suspected Silver-Russell Syndrome.The Journal of clinical endocrinology and metabolism · 2024Review
- Prenatal diagnosis of a silver-russell syndrome caused by 11p15 duplication and pedigree analysis.Frontiers in genetics · 2024Article
- Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach.Clinical epigenetics · 2023Article
- Ongoing Challenges in the Diagnosis of 11p15.5-Associated Imprinting Disorders.Molecular diagnosis & therapy · 2022Article
- Dental pulp stem cells as a promising model to study imprinting diseases.International journal of oral science · 2022Article
- The Methylation Status in the Chromosome 11p15.5 Region and Metabolic Disorders in Children with Syndromic and Nonsyndromic Intrauterine Growth Restriction.Molecular syndromology · 2022Article
- Cohesin Mutations Induce Chromatin Conformation Perturbation of theBiomolecules · 2021Article
- Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.International journal of molecular sciences · 2021Review
- One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.Orphanet journal of rare diseases · 2021Article
- Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important.Journal of molecular medicine (Berlin, Germany) · 2020Article
- Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients.Scientific reports · 2020Article
- Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management.American journal of medical genetics. Part C, Seminars in medical genetics · 2019Article
- Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report.BMC medical genomics · 2019Article
- Genomic imprinting disorders: lessons on how genome, epigenome and environment interact.Nature reviews. Genetics · 2019Review
- Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.Genetics research · 2019Article
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24 authors.
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Abstract
Molecular genetic testing for the 11p15-associated imprinting disorders Silver-Russell and Beckwith-Wiedemann syndrome (SRS, BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions. With the growing knowledge on the molecular basis of these disorders and the demand for molecular testing, it turned out that there is an urgent need for a standardized molecular diagnostic testing and reporting strategy. Based on the results from the first external pilot quality assessment schemes organized by the European Molecular Quality Network (EMQN) in 2014 and in context with activities of the European Network of Imprinting Disorders (EUCID.net) towards a consensus in diagnostics and management of SRS and BWS, best practice guidelines have now been developed. Members of institutions working in the field of SRS and BWS diagnostics were invited to comment, and in the light of their feedback amendments were made. The final document was ratified in the course of an EMQN best practice guideline meeting and is in accordance with the general SRS and BWS consensus guidelines, which are in preparation. These guidelines are based on the knowledge acquired from peer-reviewed and published data, as well as observations of the authors in their practice. However, these guidelines can only provide a snapshot of current knowledge at the time of manuscript submission and readers are advised to keep up with the literature.
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