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• Allogeneic hematopoietic stem cell transplantation corrects ligase IV deficiency
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• Clinical and genetic analysis of a patient with Baraitser-Winter syndrome due to variant of ACTG1 gene
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• De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
• Defective neurite elongation and branching in Nibp/Trappc9 deficient zebrafish and mice
• Delayed postnatal brain development and ontogenesis of behavior and cognition in a mouse model of intellectual disability
• DHCR7 links cholesterol synthesis with neuronal development and axonal integrity
• Disease burden of congenital Zika virus syndrome in Brazil and its association with socioeconomic data
• Disruption of myelin structure and oligodendrocyte maturation in a pigtail macaque model of congenital Zika infection
• Does Intra-Uterine Exposure to the Zika Virus Increase Risks of Cognitive Delay at Preschool Ages? Findings from a Zika-Exposed Cohort from Grenada, West Indies
• Does the Presence or a High Titer of Yellow Fever Virus Antibodies Interfere with Pregnancy Outcomes in Women with Zika Virus Infection?
• Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome
• Emerging concepts involving inhibitory and activating RNA functionalization towards the understanding of microcephaly phenotypes and brain diseases in humans
• Enhancing fetal alcohol spectrum disorders diagnosis with a classifier based on the intracerebellar gradient of volumetric undersizing
• Evaluation and monitoring of eye findings in children exposed to Zika virus during gestation: 3 years of follow-up
• Expanding the genetic spectrum of ALKU syndrome: Compound heterozygosity for two deleterious variants in SMG8 gene
• Expanding the phenotype of UPF3B-related disorder: Case reports and literature review
• Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct
• Exploring Zika Virus Impact on Endothelial Permeability: Insights into Transcytosis Mechanisms and Vascular Leakage
• Functional analysis of two SLC9A6 frameshift variants in lymphoblastoid cells from patients with Christianson syndrome
• Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder
• Gingival proteomics reveals the role of TGF beta and YAP/TAZ signaling in Raine syndrome fibrosis
• Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
• Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia
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• Mapping corpus callosum surface reduction in fetal alcohol spectrum disorders with sulci and connectivity-based parcellation
• Maternal Th17 Profile after Zika Virus Infection Is Involved in Congenital Zika Syndrome Development in Children
• Molecular and phenotypical findings of a novel de novo SYNGAP1 gene variant in an 11-year-old Iranian boy with intellectual disability
• Molecular functions of ANKLE2 and its implications in human disease
• Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis
• Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192
• Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders
• Neonatal cri-du-chat syndrome revelead by facial dysmorphism and weak suction: a case report
• Neurodevelopmental defects in a mouse model of O-GlcNAc transferase intellectual disability
• Neuroinvasion of emerging and re-emerging arboviruses: A scoping review
• Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome
• Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Stromme Syndrome
• Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
• Oral conditions of children with microcephaly associated with congenital Zika syndrome: a cross-sectional study
• Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype
• Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome
• Polyhydramnios associated with rare genetic syndromes: two case reports
• Potential role of lncRNA in impairing cellular properties of human neural progenitor cells following exposure to Zika virus E protein
• Prenatal diagnosis of a 15q24.1 microdeletion in a fetus with cerebral and urogenital abnormalities
• Prevalence of congenital anomalies and prenatal diagnosis by birth institution (public vs. non-public): indicators of inequality in access to elective termination of pregnancy for fetal anomalies
• Primary microcephaly gene CENPE is a novel biomarker and potential therapeutic target for non-WNT/non-SHH medulloblastoma
• Proposal of Model for Evaluation of Viral Kinetics of African/Asian/Brazilian-<em>Zika virus</em> Strains (Step Growth Curve) in Trophoblastic Cell Lines
• Quinazolinone Compounds Have Potent Antiviral Activity against Zika and Dengue Virus
• Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study
• Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorder
• Recruitment of trimeric eIF2 by phosphatase non-catalytic subunit PPP1R15B
• Repurposing of Doramectin as a New Anti-Zika Virus Agent
• Response to growth hormone therapy in ring chromosome 15: Review and evidence from a new case on possible beneficial effect in neurodevelopment
• Safe use of the ketogenic diet in an infant with microcephaly, epilepsy, and diabetes syndrome: a case report
• Semilobar Holoprosencephaly Caused by a Novel and De Novo <em>ZIC2</em> Pathogenic Variant
• Simultaneous Nbs1 and p53 inactivation in neural progenitors triggers high-grade gliomas
• SMC1A epilepsy syndrome: clinical data from a large international cohort
• Spectral-based thickness profiling of the corpus callosum enhances anomaly detection in fetal alcohol spectrum disorders
• Structural maintenance of chromosomes and associated genetic disorders
• Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutieres Syndrome (AGS)
• Targeting NHE6 gene expression identifies lysosome and neurodevelopmental mechanisms in a haploid in vitro cell model
• The first Iranian patient with You-Hoover-Fong syndrome and a review of the literature on 27 cases: expanding the genotypic and phenotypic spectrum
• The Warburg micro syndrome protein RAB3GAP1 modulates neuronal morphogenesis and interacts with axon elongation end ER-Golgi trafficking factors
• Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation
• Ultrastructural Abnormalities in Induced Pluripotent Stem Cell-Derived Neural Stem Cells and Neurons of Two Cohen Syndrome Patients
• Uncovering the Molecular Drivers of NHEJ DNA Repair-Implicated Missense Variants and Their Functional Consequences
• Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome
• Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III
• Zika virus infection histories in brain development
• Zika Virus Neuropathogenesis-Research and Understanding