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Clinical Epigenetics|October 4, 2025
Highly variable genomic methylation in the Beckwith-Wiedemann syndrome associated with multi-locus imprinting disturbancesFrancesco Cecere, Laura Pignata, Emilia D'Angelo, et al.
European Journal of Human Genetics : EJHG|April 23, 2015
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndromeAlessandro Mussa, Silvia Russo, Agostina De Crescenzo, et al.
Italian Journal of Pediatrics|October 22, 2025
Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp associationSilvia Russo, Donatella Milani, Camilla Meossi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2019
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locusFederica Maria Valente, Angela Sparago, Andrea Freschi, et al.
BMC Medical Genomics|November 28, 2023
Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failureClaudia Saglia, Valeria Bracciamà, Luca Trotta, et al.
The Journal of Pediatrics|December 5, 2017
Exposure to Gastric Acid Inhibitors Increases the Risk of Infection in Preterm Very Low Birth Weight Infants but Concomitant Administration of Lactoferrin Counteracts This EffectPaolo Manzoni, Ruben García Sánchez, Michael Meyer, et al.
American Journal of Medical Genetics. Part A|May 6, 2017
Nomenclature and definition in asymmetric regional body overgrowthJennifer M Kalish, Leslie G Biesecker, Frederic Brioude, et al.
Clinical Epigenetics|March 3, 2016
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromesSilvia Russo, Luciano Calzari, Alessandro Mussa, et al.
European Journal of Human Genetics : EJHG|June 1, 2024
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variantAndrea Gazzin, Federico Fornari, Marcello Niceta, et al.
Clinical Genetics|July 17, 2022
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniquesDiana Carli, Matteo Operti, Silvia Russo, et al.
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