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The clinical significance of small copy number variants in neurodevelopmental disordersDe novo mutations in the genome organizer CTCF cause intellectual disability.Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.Microarrays in prenatal diagnosis.STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.Noninvasive prenatal testing: more caution in counseling is needed in high risk pregnancies with ultrasound abnormalities.Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency.Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders.Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.[Intellectual disability - a frequent reason for referral to medical genetics].A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations.Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B.A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes.Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuriaDe Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental DisorderInfantile Epileptic Encephalopathy, Transient Choreoathetotic Movements, and Hypersomnia due to a De Novo Missense Mutation in the SCN2A GeneNeed for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS ConsortiumHeterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and EpilepsyDeleterious Variation in BRSK2 Associates with a Neurodevelopmental DisorderFurther corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypesSpatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizuresThe role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number studyBi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial DysmorphismCDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defectsInsight Into the Ontogeny of GnRH Neurons From Patients Born Without a NoseDe Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital DefectsFetal tuberous sclerosis and the diagnosis of paternal gonadal mosaicismCUGC for Simpson-Golabi-Behmel syndrome (SGBS)De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy
P50
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