Diagnosis and management of Silver–Russell syndrome: first international consensus statementEmma Wakeling, Irène Netchine|Nature Reviews Endocrinology|2016Cited by 502
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndromeJ. K. J. VAN HOUDT, Joris Vermeesch, Gabriele Gillessen‐Kaesbach et al.|Nature Genetics|2012Cited by 244
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicismMorad Ansari, Julie Vogt, Gemma Poke et al.|Journal of Medical Genetics|2014Cited by 171
Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencingKaren Stals, Sian Ellard, Matthew N. Wakeling et al.|Prenatal Diagnosis|2017Cited by 78
Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disordersRebecca Poole, Deborah Mackay, Louise E Docherty et al.|American Journal of Medical Genetics Part A|2013Cited by 75