Search results for: Kathryn Roeder

Items from 1 to 20 out of 43 results

article

H‐MAGMA, inheriting a shaky statistical foundation, yields excess false positives

Ronald Yurko, Kathryn Roeder, Bernie Devlin, Max G'Sell

Annals of Human Genetics > 85 > 3-4 > 97 - 100

article

Functional connectome fingerprinting accuracy in youths and adults is similar when examined on the same day and 1.5‐years apart

Maria Jalbrzikowski, Fuchen Liu, William Foran, Lambertus Klei, more

Human Brain Mapping > 41 > 15 > 4187 - 4199

Pioneering studies have shown that individual correlation measures from resting‐state functional magnetic resonance imaging studies can identify another scan from that same individual. This method is known as “connectotyping” or functional connectome “fingerprinting.” We analyzed a unique dataset of 12–30 years old (N = 140) individuals who had two distinct resting state scans on the same day and...

article

Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS

Amanda Dobbyn, Laura M. Huckins, James Boocock, Laura G. Sloofman, more

The American Journal of Human Genetics > 2018 > 102 > 6 > 1169-1184

Causal genes and variants within genome-wide association study (GWAS) loci can be identified by integrating GWAS statistics with expression quantitative trait loci (eQTL) and determining which variants underlie both GWAS and eQTL signals. Most analyses, however, consider only the marginal eQTL signal, rather than dissect this signal into multiple conditionally independent signals for each gene. Here...

article

Combining Autism And Intellectual Disability Exome Data Implicates Disruption Of Neocortical Development In Both Disorders

Joseph Buxbaum, Ercument Cicek, Bernie Devlin, Lambertus Klei, more

European Neuropsychopharmacology > 2017 > 27 > S3 > S437

Autism spectrum disorder (ASD) and intellectual disability (ID) are known to be highly co-morbid, but whether their genetic risk converges on a common neurodevelopmental process is unknown. Integrative approaches using genetic evidence and brain co-expression data have proven useful in pinpointing specific developmental epochs and, within them, discrete neural circuits where risk for ASD maps. These...

article

Integrative Analyses of Autism And Intellectual Disability Exome Data Reveal Similarities And Divergences And Identify Novel Risk Genes For Both Disorders

Joseph Buxbaum, Ercument Cicek, Bernie Devlin, Lambertus Klei, more

European Neuropsychopharmacology > 2017 > 27 > S3 > S419-S420

article

A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies

Corneliu A. Bodea, Benjamin M. Neale, Stephan Ripke, Murray Barclay, more

The American Journal of Human Genetics > 2016 > 98 > 5 > 857-868

One goal of human genetics is to understand the genetic basis of disease, a challenge for diseases of complex inheritance because risk alleles are few relative to the vast set of benign variants. Risk variants are often sought by association studies in which allele frequencies in case subjects are contrasted with those from population-based samples used as control subjects. In an ideal world we would...

chapter

Evolutionary-Based Association Analysis Using Haplotype Data

Kathryn Roeder

Lecture Notes in Computer Science > Computational Methods for SNPs and Haplotype Inference > Abstracts > 144-144

Association studies, both family-based and population-based, can be powerful means of detecting disease-liability alleles. To increase the information of the test, various researchers have proposed targeting haplotypes. The larger number of haplotypes, however, relative to alleles at individual loci, could decrease power because of the additional degrees of freedom required for the test. An optimal...

article

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

Stephan J. Sanders, Xin He, A. Jeremy Willsey, A. Gulhan Ercan-Sencicek, more

Neuron > 2015 > 87 > 6 > 1215-1233

Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci (1q21.1, 3q29, 7q11.23, 16p11.2, 15q11.2-13, and 22q11.2). The addition of published CNV data from the Autism Genome Project (AGP) and exome sequencing data from the SSC and the Autism Sequencing...

article

Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder

Devin Absher, Ingrid Agartz, Huda Akil, Farooq Amin, more

The American Journal of Human Genetics > 2015 > 96 > 2 > 283-294

article

De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder

Shan Dong, Michael F. Walker, Nicholas J. Carriero, Michael DiCola, more

Cell Reports > 2014 > 9 > 1 > 16-23

Whole-exome sequencing (WES) studies have demonstrated the contribution of de novo loss-of-function single-nucleotide variants (SNVs) to autism spectrum disorder (ASD). However, challenges in the reliable detection of de novo insertions and deletions (indels) have limited inclusion of these variants in prior analyses. By applying a robust indel detection method to WES data from 787 ASD families (2,963...

article

Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families

Ian Blumenthal, Ashok Ragavendran, Serkan Erdin, Lambertus Klei, more

The American Journal of Human Genetics > 2014 > 94 > 6 > 870-883

Reciprocal copy-number variation (CNV) of a 593 kb region of 16p11.2 is a common genetic cause of autism spectrum disorder (ASD), yet it is not completely penetrant and can manifest in a wide array of phenotypes. To explore its molecular consequences, we performed RNA sequencing of cerebral cortex from mouse models with CNV of the syntenic 7qF3 region and lymphoblast lines from 34 members of 7 multiplex...

article

Linking Peer Victimization to the Development of Depressive Self-Schemas in Children and Adolescents

David A. Cole, Tammy L. Dukewich, Kathryn Roeder, Keneisha R. Sinclair, more

Journal of Abnormal Child Psychology > 2014 > 42 > 1 > 149-160

Previous theory and research suggest that childhood experiences are more likely to generate depressive self-schemas when they focus attention on negative information about oneself, generate strong negative affect, and are repetitive or chronic. Persistent peer victimization meets these criteria. In the current study, 214 youths (112 females) with empirically-validated histories of high or low peer...

article

DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics

Li Liu, Jing Lei, Stephan J Sanders, Arthur Jeremy Willsey, more

Molecular Autism > 2014 > 5 > 1 > 1-18

Background De novo loss-of-function (dnLoF) mutations are found twofold more often in autism spectrum disorder (ASD) probands than their unaffected siblings. Multiple independent dnLoF mutations in the same gene implicate the gene in risk and hence provide a systematic, albeit arduous, path forward for ASD genetics. It is likely that using additional non-genetic data will enhance...

article

Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism

A. Jeremy Willsey, Stephan J. Sanders, Mingfeng Li, Shan Dong, more

Cell > 2013 > 155 > 5 > 997-1007

Autism spectrum disorder (ASD) is a complex developmental syndrome of unknown etiology. Recent studies employing exome- and genome-wide sequencing have identified nine high-confidence ASD (hcASD) genes. Working from the hypothesis that ASD-associated mutations in these biologically pleiotropic genes will disrupt intersecting developmental processes to contribute to a common phenotype, we have attempted...

article

Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA

Chad M. Schafer, Nicholas G. Campbell, Guiqing Cai, Fei Yu, more

Genomics > 2013 > 102 > 4 > 270-277

Two common sources of DNA for whole exome sequencing (WES) are whole blood (WB) and immortalized lymphoblastoid cell line (LCL). However, it is possible that LCLs have a substantially higher rate of mutation than WB, causing concern for their use in sequencing studies. We compared results from paired WB and LCL DNA samples for 16 subjects, using LCLs of low passage number (<5). Using a standard...

article

Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders

Elaine T. Lim, Soumya Raychaudhuri, Stephan J. Sanders, Christine Stevens, more

Neuron > 2013 > 77 > 2 > 235-242

To characterize the role of rare complete human knockouts in autism spectrum disorders (ASDs), we identify genes with homozygous or compound heterozygous loss-of-function (LoF) variants (defined as nonsense and essential splice sites) from exome sequencing of 933 cases and 869 controls. We identify a 2-fold increase in complete knockouts of autosomal genes with low rates of LoF variation (≤5% frequency)...

article

The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders

Joseph D. Buxbaum, Mark J. Daly, Bernie Devlin, Thomas Lehner, more

Neuron > 2012 > 76 > 6 > 1052-1056

Research during the past decade has seen significant progress in the understanding of the genetic architecture of autism spectrum disorders (ASDs), with gene discovery accelerating as the characterization of genomic variation has become increasingly comprehensive. At the same time, this research has highlighted ongoing challenges. Here we address the enormous impact of high-throughput sequencing (HTS)...

article

Feasibility and acceptability of interventions to delay gun access in VA mental health settings

Heather Walters, Madhur Kulkarni, Jane Forman, Kathryn Roeder, more

General Hospital Psychiatry > 2012 > 34 > 6 > 692-698

The majority of VA patient suicides are completed with firearms. Interventions that delay patients’ gun access during high-risk periods may reduce suicide, but may not be acceptable to VA stakeholders or may be challenging to implement. Using qualitative methods, stakeholders’ perceptions about gun safety and interventions to delay gun access during high-risk periods were explored.Ten focus groups...

article

Next generation analytic tools for large scale genetic epidemiology studies of complex diseases

Leah E. Mechanic, Huann‐Sheng Chen, Christopher I. Amos, Nilanjan Chatterjee, more

Genetic Epidemiology > 36 > 1 > 22 - 35

Over the past several years, genome‐wide association studies (GWAS) have succeeded in identifying hundreds of genetic markers associated with common diseases. However, most of these markers confer relatively small increments of risk and explain only a small proportion of familial clustering. To identify obstacles to future progress in genetic epidemiology research and provide recommendations to NIH...

article

African ancestry and lung function in Puerto Rican children

John M. Brehm, Edna Acosta-Pérez, Lambertus Klei, Kathryn Roeder, more

The Journal of Allergy and Clinical Immunology > 2012 > 129 > 6 > 1484-1490.e6

Puerto Rican and African American subjects share a significant proportion of African ancestry. Recent findings suggest that African ancestry influences lung function in African American adults.We sought to examine whether a greater proportion of African ancestry is associated with lower FEV ₁ and forced vital capacity (FVC) in Puerto Rican children independently of socioeconomic status, health...

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INFONA - science communication portal

Search results for: Kathryn Roeder

H‐MAGMA, inheriting a shaky statistical foundation, yields excess false positives

Functional connectome fingerprinting accuracy in youths and adults is similar when examined on the same day and 1.5‐years apart

Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS

Combining Autism And Intellectual Disability Exome Data Implicates Disruption Of Neocortical Development In Both Disorders

Integrative Analyses of Autism And Intellectual Disability Exome Data Reveal Similarities And Divergences And Identify Novel Risk Genes For Both Disorders

A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies

Evolutionary-Based Association Analysis Using Haplotype Data

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder

De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder

Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families

Linking Peer Victimization to the Development of Depressive Self-Schemas in Children and Adolescents

DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics

Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism

Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA

Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders

The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders

Feasibility and acceptability of interventions to delay gun access in VA mental health settings

Next generation analytic tools for large scale genetic epidemiology studies of complex diseases

African ancestry and lung function in Puerto Rican children

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