Search Results - "Chambert, Kimberly"
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Novel Findings from CNVs Implicate Inhibitory and Excitatory Signaling Complexes in Schizophrenia
Published in Neuron (Cambridge, Mass.) (03-06-2015)“…We sought to obtain novel insights into schizophrenia pathogenesis by exploiting the association between the disorder and chromosomal copy number (CNV) burden…”
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Exome sequencing in schizophrenia-affected parent–offspring trios reveals risk conferred by protein-coding de novo mutations
Published in Nature neuroscience (01-02-2020)“…Protein-coding de novo mutations (DNMs) are significant risk factors in many neurodevelopmental disorders, whereas schizophrenia (SCZ) risk associated with…”
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Analysis of copy number variations at 15 schizophrenia-associated loci
Published in British journal of psychiatry (01-02-2014)“…A number of copy number variants (CNVs) have been suggested as susceptibility factors for schizophrenia. For some of these the data remain equivocal, and the…”
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The Penetrance of Copy Number Variations for Schizophrenia and Developmental Delay
Published in Biological psychiatry (1969) (01-03-2014)“…Background Several recurrent copy number variants (CNVs) have been shown to increase the risk of developing schizophrenia (SCZ), developmental delay (DD),…”
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Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence
Published in The New England journal of medicine (25-12-2014)“…In this study, clonal hematopoiesis with somatic mutations was found in 10% of otherwise healthy people older than 65. The risk of hematologic cancer was…”
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Evidence of Common Genetic Overlap Between Schizophrenia and Cognition
Published in Schizophrenia bulletin (01-05-2016)“…Cognitive impairment is a core feature of schizophrenia but there is limited understanding of the genetic relationship between cognition in the general…”
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Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
Published in American journal of human genetics (05-10-2012)“…Sequencing of gene-coding regions (the exome) is increasingly used for studying human disease, for which copy-number variants (CNVs) are a critical genetic…”
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De novo CNVs in bipolar affective disorder and schizophrenia
Published in Human molecular genetics (15-12-2014)“…An increased rate of de novo copy number variants (CNVs) has been found in schizophrenia (SZ), autism and developmental delay. An increased rate has also been…”
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zCall: a rare variant caller for array-based genotyping
Published in Bioinformatics (Oxford, England) (01-10-2012)“…Abstract Summary: zCall is a variant caller specifically designed for calling rare single-nucleotide polymorphisms from array-based technology. This caller is…”
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CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1
Published in Human molecular genetics (15-03-2014)“…Large and rare copy number variants (CNVs) at several loci have been shown to increase risk for schizophrenia. Aiming to discover novel susceptibility CNV…”
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Using population admixture to help complete maps of the human genome
Published in Nature genetics (01-04-2013)“…Steven McCarroll, Giulio Genovese and colleagues report a new approach to help complete maps of the human genome reference sequence. They use a…”
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Implication of a rare deletion at distal 16p11.2 in schizophrenia
Published in JAMA psychiatry (Chicago, Ill.) (01-03-2013)“…Large genomic copy number variations have been implicated as strong risk factors for schizophrenia. However, the rarity of these events has created challenges…”
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LD Score regression distinguishes confounding from polygenicity in genome-wide association studies
Published in Nature genetics (01-03-2015)“…Benjamin Neale and colleagues report the LD Score regression method, used to distinguish the relative contributions of confounding bias and polygenicity to…”
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De novo mutations in schizophrenia implicate synaptic networks
Published in Nature (London) (13-02-2014)“…Inherited alleles account for most of the genetic risk for schizophrenia. However, new ( de novo ) mutations, in the form of large chromosomal copy number…”
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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia
Published in Nature neuroscience (01-11-2016)“…Using whole-exome sequencing, the authors identified 244,246 coding-sequence and splice-site ultra-rare variants (URVs) and found that gene-disruptive and…”
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Differential Bile Acid Detection in Refractory GERD Patient Saliva Using a Simple and Sensitive Liquid Chromatography Tandem Mass Spectrometry Approach
Published in Journal of clinical gastroenterology (01-03-2022)“…The aim was to measure bile acids in human saliva using a sensitive ultraperformance liquid chromatography tandem mass spectrometry analysis method to…”
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Interaction Testing and Polygenic Risk Scoring to Estimate the Association of Common Genetic Variants With Treatment Resistance in Schizophrenia
Published in JAMA psychiatry (Chicago, Ill.) (01-03-2022)“…About 20% to 30% of people with schizophrenia have psychotic symptoms that do not respond adequately to first-line antipsychotic treatment. This clinical…”
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Validation of Electronic Health Record Phenotyping of Bipolar Disorder Cases and Controls
Published in The American journal of psychiatry (01-04-2015)“…Objective:The study was designed to validate use of electronic health records (EHRs) for diagnosing bipolar disorder and classifying control…”
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