• <em>ARF1</em>-related disorder: phenotypic and molecular spectrum
• <em>FAM111A</em>-Related Skeletal Dysplasias
• 10q23.31 microduplication encompassing <em>PTEN</em> decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly
• Advanced Early-Onset Fahr's Disease: A Case Report
• Alopecia areata-like pattern of baldness: the most recent update and the expansion of novel phenotype and genotype in the CTNNB1 gene
• An intellectual-disability-associated mutation of the transcriptional regulator <em>NACC1</em> impairs glutamatergic neurotransmission
• Case report: A novel <em>de novo</em> deletion mutation of <em>DYRK1A</em> is associated with intellectual developmental disorder, autosomal dominant 7
• Clinical Heterogeneity and Different Phenotypes in Patients with <em>SETD2</em> Variants: 18 New Patients and Review of the Literature
• De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity
• Dermatological findings in Rubinstein-Taybi Syndrome
• Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome
• Genetic susceptibility of vitamin D receptor gene polymorphisms on autosomal recessive primary microcephaly patients in Pakistani population: a case-control and in-silico study
• Landscape of genetic Infantile Epileptic Spasms Syndrome - A multicenter cohort of 124 children from India
• Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India
• Molecular and phenotypical findings of a novel de novo SYNGAP1 gene variant in an 11-year-old Iranian boy with intellectual disability
• Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the QRICH1 Gene
• Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy
• Novel heterozygous variants in the EP300 gene cause Rubinstein-Taybi syndrome 2: Reports from two Chinese children
• Novel mutation c.2090_2091del in neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities in an 18.5-mo-old boy: A case report
• What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH)