Search Results - "Weiss, Lauren A."
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Recurrent reciprocal copy number variants: Roles and rules in neurodevelopmental disorders
Published in Developmental neurobiology (Hoboken, N.J.) (01-05-2018)“…ABSTRACT Deletions and duplications, called reciprocal CNVs when they occur at the same locus, are implicated in neurodevelopmental phenotypes ranging from…”
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Combinations of genes at the 16p11.2 and 22q11.2 CNVs contribute to neurobehavioral traits
Published in PLoS genetics (02-06-2023)“…The 16p11.2 and 22q11.2 copy number variants (CNVs) are associated with neurobehavioral traits including autism spectrum disorder (ASD), schizophrenia, bipolar…”
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Mapping cis-regulatory chromatin contacts in neural cells links neuropsychiatric disorder risk variants to target genes
Published in Nature genetics (01-08-2019)“…Mutations in gene regulatory elements have been associated with a wide range of complex neuropsychiatric disorders. However, due to their cell-type specificity…”
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SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)
Published in Molecular autism (03-10-2013)“…New technologies enabling genome-wide interrogation have led to a large and rapidly growing number of autism spectrum disorder (ASD) candidate genes. Although…”
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Cellular Phenotypes in Human iPSC-Derived Neurons from a Genetic Model of Autism Spectrum Disorder
Published in Cell reports (Cambridge) (05-12-2017)“…A deletion or duplication in the 16p11.2 region is associated with neurodevelopmental disorders, including autism spectrum disorder and schizophrenia. In…”
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Sex-heterogeneous SNPs disproportionately influence gene expression and health
Published in PLoS genetics (05-05-2022)“…Phenotypic differences across sexes are pervasive, but the genetic architecture of sex differences within and across phenotypes is mostly unknown. In this…”
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Can the “female protective effect” liability threshold model explain sex differences in autism spectrum disorder?
Published in Neuron (Cambridge, Mass.) (19-10-2022)“…Male sex is a strong risk factor for autism spectrum disorder (ASD). The leading theory for a “female protective effect” (FPE) envisions males and females have…”
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The sex-specific genetic architecture of quantitative traits in humans
Published in Nature genetics (01-02-2006)“…Mapping genetically complex traits remains one of the greatest challenges in human genetics today. In particular, gene-environment and gene-gene interactions,…”
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Association between Microdeletion and Microduplication at 16p11.2 and Autism
Published in The New England journal of medicine (14-02-2008)“…The causes of autism are largely unknown. This study establishes that aberrant dosage of a large genomic segment is associated with autism spectrum disorder…”
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Cell-autonomous correction of ring chromosomes in human induced pluripotent stem cells
Published in Nature (London) (06-03-2014)“…Generation of human induced pluripotent stem cells from patient fibroblasts containing ring chromosomes with large deletions reveals that reprogrammed cells…”
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Dysregulation of astrocyte extracellular signaling in Costello syndrome
Published in Science translational medicine (06-05-2015)“…Astrocytes produce an assortment of signals that promote neuronal maturation according to a precise developmental timeline. Is this orchestrated timing and…”
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Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders
Published in PLoS genetics (11-01-2017)“…Although gene-gene interaction, or epistasis, plays a large role in complex traits in model organisms, genome-wide by genome-wide searches for two-way…”
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Pleiotropic Mechanisms Indicated for Sex Differences in Autism
Published in PLoS genetics (15-11-2016)“…Sexual dimorphism in common disease is pervasive, including a dramatic male preponderance in autism spectrum disorders (ASDs). Potential genetic explanations…”
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Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
Published in Genome medicine (29-10-2021)“…Deletions and duplications of the multigenic 16p11.2 and 22q11.2 copy number variant (CNV) regions are associated with brain-related disorders including…”
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Ratio of n--6 to n--3 fatty acids and bone mineral density in older adults: the Rancho Bernardo Study
Published in The American journal of clinical nutrition (01-04-2005)“…Background: Several lines of evidence suggest that n-3 fatty acids reduce the risk of some chronic diseases, including heart disease, diabetes, and cancer…”
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Relationship between sex biases in gene expression and sex biases in autism and Alzheimer's disease
Published in Biology of sex differences (07-06-2024)“…Sex differences in the brain may play an important role in sex-differential prevalence of neuropsychiatric conditions. In order to understand the…”
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Cross-genetic determination of maternal and neonatal immune mediators during pregnancy
Published in Genome medicine (22-08-2018)“…The immune system plays a fundamental role in development during pregnancy and early life. Alterations in circulating maternal and neonatal immune mediators…”
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A genome-wide survey of transgenerational genetic effects in autism
Published in PloS one (24-10-2013)“…Effects of parental genotype or parent-offspring genetic interaction are well established in model organisms for a variety of traits. However, these…”
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Inflammatory Conditions During Pregnancy and Risk of Autism and Other Neurodevelopmental Disorders
Published in Biological psychiatry global open science (01-01-2024)“…Maternal inflammation can result from immune dysregulation and metabolic perturbations during pregnancy. Whether conditions associated with inflammation during…”
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Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes
Published in Stem cell reports (13-09-2016)“…Germline mutations in BRAF cause cardio-facio-cutaneous syndrome (CFCS), whereby 40% of patients develop hypertrophic cardiomyopathy (HCM). As the role of the…”
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