A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations

Irène Netchine, Sylvie Rossignol, Marie‐Noëlle Dufourg et al. · The Journal of Clinical Endocrinology & Metabolism · 2007 · 312 citations · Full text

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

Jet Bliek, Gaetano Verde, Jonathan L A Callaway et al. · European Journal of Human Genetics · 2008 · 232 citations · Full text

Developmental Biology, Genetic Disorder, Epigenetic Change +7

A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

Salah Azzi, Jennifer Ben Salem, Nathalie Thibaud et al. · Journal of Medical Genetics · 2015 · 210 citations · Full text

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

Louise E Docherty, Faisal I. Rezwan, Rebecca Poole et al. · Nature Communications · 2015 · 187 citations · Full text

(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome

Alessandro Mussa, Silvia Russo, Agostina De Crescenzo et al. · European Journal of Human Genetics · 2015 · 185 citations · Full text

Clinical Disorders, Genetic Disorder, Genetics +7