• Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
• Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
• Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
• Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
• CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
• Dysmorphology at a distance: results of a web-based diagnostic service
• Dysmorphology services: a snapshot of current practices and a vision for the future
• Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
• Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
• Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
• How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
• Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome
• Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth
• Not all <em>SCN1A</em> epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype
• Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype
• Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients
• Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype