Search Results - "Veatch, Olivia"
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Pleiotropic genetic effects influencing sleep and neurological disorders
Published in Lancet neurology (01-02-2017)“…Summary Research evidence increasingly points to the large impact of sleep disturbances on public health. Many aspects of sleep are heritable and genes…”
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Shorter sleep duration is associated with social impairment and comorbidities in ASD
Published in Autism research (01-07-2017)“…Sleep disturbance, particularly insomnia, is common in children with autism spectrum disorders (ASD). Furthermore, disturbed sleep affects core symptoms and…”
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3
PHIP gene variants with protein modeling, interactions, and clinical phenotypes
Published in American journal of medical genetics. Part A (01-02-2022)“…Variants in the pleckstrin homology domain‐interacting protein (PHIP) gene are implicated in the clinical phenotype of Chung–Jansen syndrome, which includes…”
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4
Etiologic heterogeneity, pleiotropy, and polygenicity in behaviorally defined intellectual and developmental disabilities
Published in Journal of neurodevelopmental disorders (13-03-2024)Get full text
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Potential Pathophysiological Pathways in the Complex Relationships between OSA and Cancer
Published in Cancers (07-02-2023)“…Several epidemiological and clinical studies have suggested a relationship between obstructive sleep apnea (OSA) and a higher incidence or severity of cancer…”
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Next‐generation sequencing and analysis of consecutive patients referred for connective tissue disorders
Published in American journal of medical genetics. Part A (01-10-2022)“…Heritable connective tissue disorders (HCTDs) consist of a wide array of genetic disorders such as Ehlers–Danlos syndrome, Marfan syndrome, and osteogenesis…”
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Screening effects of HCN channel blockers on sleep/wake behavior in zebrafish
Published in Frontiers in neuroscience (19-03-2024)“…Hyperpolarization-activated cyclic nucleotide-gated (HCN) ion channels generate electrical rhythmicity in various tissues although primarily heart, retina and…”
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Genetic Variation in Melatonin Pathway Enzymes in Children with Autism Spectrum Disorder and Comorbid Sleep Onset Delay
Published in Journal of autism and developmental disorders (01-01-2015)“…Sleep disruption is common in individuals with autism spectrum disorder (ASD). Genes whose products regulate endogenous melatonin modify sleep patterns and…”
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Genomic, Clinical, and Behavioral Characterization of 15q11.2 BP1-BP2 Deletion (Burnside-Butler) Syndrome in Five Families
Published in International journal of molecular sciences (07-02-2021)“…The 15q11.2 BP1-BP2 deletion (Burnside-Butler) syndrome is emerging as the most common cytogenetic finding in patients with neurodevelopmental or autism…”
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10
ADAMTSL2 gene variant in patients with features of autosomal dominant connective tissue disorders
Published in American journal of medical genetics. Part A (01-03-2021)“…Ehlers‐Danlos syndrome (EDS) consists of a heterogeneous group of genetically inherited connective tissue disorders. A family with three affected members over…”
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Identifying clusters of patient comorbidities associated with obstructive sleep apnea using electronic health records
Published in Journal of clinical sleep medicine (01-04-2024)“…The objectives of this study were to understand the relative comorbidity burden of obstructive sleep apnea (OSA), determine whether these relationships were…”
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Connective Tissue Disorders and Fragile X Molecular Status in Females: A Case Series and Review
Published in International journal of molecular sciences (13-08-2022)“…Fragile X syndrome (FXS) is the most common inherited cause of intellectual disabilities and the second most common cause after Down syndrome. FXS is an…”
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Synaptic dysfunction connects autism spectrum disorder and sleep disturbances: A perspective from studies in model organisms
Published in Sleep medicine reviews (01-04-2022)“…Sleep disturbances (SD) accompany many neurodevelopmental disorders, suggesting SD is a transdiagnostic process that can account for behavioral deficits and…”
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Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study
Published in BMC medical genomics (02-08-2022)“…Abstract Background Heritable connective tissue disorders (HCTDs) consist of heterogeneous syndromes. The diagnosis of HCTDs is aided by genomic…”
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15
The dihydropyrimidine dehydrogenase gene contributes to heritable differences in sleep in mice
Published in Current biology (06-12-2021)“…Many aspects of sleep are heritable, but only a few sleep-regulating genes have been reported. Here, we leverage mouse models to identify and confirm a…”
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The Relationship Between Genetic Risk for Insomnia and Psychiatric Disorders
Published in Current sleep medicine reports (01-06-2024)“…Purpose of Review Insomnia has a bi-directional relationship with both psychiatric and addictive disorders, and recent twin studies have shown an overlap in…”
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An Automated Functional Annotation Pipeline That Rapidly Prioritizes Clinically Relevant Genes for Autism Spectrum Disorder
Published in International journal of molecular sciences (27-11-2020)“…Human genetic studies have implicated more than a hundred genes in Autism Spectrum Disorder (ASD). Understanding how variation in implicated genes influence…”
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A practical approach to identifying autistic adults within the electronic health record
Published in Autism research (01-01-2023)“…The electronic health record (EHR) provides valuable data for understanding physical and mental health conditions in autism. We developed an approach to…”
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Genome-wide association and pathway analysis of left ventricular function after anthracycline exposure in adults
Published in Pharmacogenetics and genomics (01-07-2017)“…Anthracyclines are important chemotherapeutic agents, but their use is limited by cardiotoxicity. Candidate gene and genome-wide studies have identified…”
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Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes
Published in Pediatric neurology (01-10-2021)“…Adequate sleep is important for proper neurodevelopment and positive health outcomes. Sleep disturbances are more prevalent in children with genetically…”
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