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Deletion of ERF and CIC causes abnormal skull morphology and global developmental delayThe ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the ERF gene cause variable craniosynostosis inherited in an autosomal dominant pattern. The reported ERF variants are largely loss-of-function, implying haploinsufficiency as a primary disease mechanism; however, ERF gene deletions have not been reported previously. Here we describe three probands with macrocephaly, craniofacial dysmorphology, and global developmental delay.
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Systematic Review and Meta-analysis: Mental Health in ChildrenThe behavioral phenotype of neurogenetic disorders associated with intellectual disability often includes psychiatric comorbidity. The objectives of this systematic review and meta-analysis were to systematically review the prevalence of psychiatric disorders and symptoms in children and adolescents
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Ovalbumin in breast milk is associated with a decreased risk of IgE-mediated egg allergy in childrenShowed for the first time that the presence of an egg-derived allergen in breast milk is associated with a reduced risk of egg allergy in children at 2.5 years of age
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Causes and Clinical Features of Childhood Encephalitis: A Multicenter, Prospective Cohort StudyEpidemic viral infections predominated as causes of childhood encephalitis in Australia. The leading causes include vaccine-preventable diseases
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Assessing the unified airway hypothesis in children via transcriptional profiling of the airway epitheliumUpper and lower airways are conserved in their transcriptional composition, and variations associated with disease are present in both nasal and tracheal epithelium
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Overcoming challenges in measuring early childhood development across culturesThese challenges in measuring early childhood development are exacerbated when making comparisons across cultures
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Interaction between filaggrin mutations and neonatal cat exposure in atopic dermatitisRecent birth cohort studies showed a significant interaction between cat ownership at birth and mutations in FLG on the development of early‐onset atopic dermatitis
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ApoB48-Lipoproteins Are Associated with Cardiometabolic Risk in AdolescentsAdolescents with polycystic ovary syndrome (PCOS) have increased incidence of cardiometabolic risk factors including dyslipidemia. Atherogenic apolipoprotein (apo) B-lipoprotein remnants are associated with increased cardiovascular disease (CVD) risk.
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Quantification of glucose-6-phosphate dehydrogenase activity by spectrophotometry: A systematic review and meta-analysisOur findings indicate that there is substantial variation in glucose-6-phosphate dehydrogenase measurements by spectrophotometry between sites
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Association of Structural Magnetic Resonance Imaging Measures with Psychosis Onset in Individuals at Clinical High Risk for Developing Psychosis: An ENIGMA Working Group Mega-analysisThe ENIGMA clinical high risk (CHR) for psychosis initiative, the largest pooled neuroimaging sample of individuals at CHR to date, aims to discover robust neurobiological markers of psychosis risk. We investigated baseline structural neuroimaging differences between individuals at CHR and healthy controls as well as between participants at CHR who later developed a psychotic disorder (CHR-PS+) and those who did not (CHR-PS-).