Alison Merikangas
A5091281664- Genetic Associations and Epidemiology
- Autism Spectrum Disorder Research
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Cognitive Abilities and Testing
- Substance Abuse Treatment and Outcomes
- Alcohol Consumption and Health Effects
- Epigenetics and DNA Methylation
- Birth, Development, and Health
- Congenital heart defects research
- Adolescent and Pediatric Healthcare
- Child and Adolescent Psychosocial and Emotional Development
- Bipolar Disorder and Treatment
- Functional Brain Connectivity Studies
- Genomics and Rare Diseases
- Bioinformatics and Genomic Networks
- Neural and Behavioral Psychology Studies
- BRCA gene mutations in cancer
- Schizophrenia research and treatment
- Cardiovascular Disease and Adiposity
- Health, Environment, Cognitive Aging
- Neurotransmitter Receptor Influence on Behavior
- Diet and metabolism studies
- Memory and Neural Mechanisms
- Ethics in Clinical Research
University of Pennsylvania
2015-2023
Children's Hospital of Philadelphia
2017-2023
Lifespan
2017-2023
California University of Pennsylvania
2023
Philadelphia University
2023
University of Pennsylvania Health System
2022
American Jewish Committee
2020
Conference Board
2020
National Institute of Mental Health
2006-2019
Trinity College Dublin
2010-2015
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed excess genic deletions duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) increase subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD intellectual disability (odds ratio 12.62, 2.7 10(-15), ∼3% subjects). Pathogenic CNVs, often showing variable expressivity,...
Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known risk has been traced to rare variants, principally copy number variants (CNVs). To identify common variation, Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes association with ASD. In one four primary analyses, signal marker rs4141463, located within MACROD2, crossed genome-wide...
While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), contribution common to risk developing ASD less clear.To produce a more comprehensive picture, we report Stage 2 Autism Genome Project genome-wide association study, adding 1301 families and bringing total 2705 analysed (Stages 1 2).In addition evaluating individual single nucleotide polymorphisms (SNPs), also sought evidence variants, en masse, might affect...
Biologic systems involved in the regulation of motor activity are intricately linked with other homeostatic such as sleep, feeding behavior, energy, and mood. Mobile monitoring technology (eg, actigraphy ecological momentary assessment devices) allows these multiple real time. However, most clinical studies mental disorders that use mobile devices have not focused on dynamic associations between systems.To examine directional among activity, mood, sleep using a community-identified sample,...
Autism spectrum disorder (ASD) is a highly heritable of complex and heterogeneous aetiology. It primarily characterized by altered cognitive ability including impaired language communication skills fundamental deficits in social reciprocity. Despite some notable successes neuropsychiatric genetics, overall, the high heritability ASD (~90%) remains poorly explained common genetic risk variants. However, recent studies suggest that rare genomic variation, particular copy number may account for...
Psychiatric and cognitive phenotypes have been associated with a range of specific, rare copy number variants (CNVs). Moreover, IQ is strongly CNV risk scores that model the predicted CNVs across genome. But utility for psychiatric has sparsely examined.To determine how scores, common genetic variation indexed by polygenic (PGSs), environmental factors combine to associate cognition psychopathology in community sample.The Philadelphia Neurodevelopmental Cohort community-based study examining...
Although multiple reports show that defective genetic networks underlie the aetiology of autism, few have translated into pharmacotherapeutic opportunities. Since drugs compete with endogenous small molecules for protein binding, many successful target large gene families drug binding sites. Here we search family interaction (GFINs) in 6,742 patients ASDs relative to 12,544 neurologically normal controls, find potentially druggable targets. We significant enrichment structural defects (P ≤...
BackgroundPrediction of disease risk is a key component precision medicine. Common traits such as psychiatric disorders have complex polygenic architecture, making the identification single predictor difficult. Polygenic scores (PRSs) denoting sum an individual's genetic liability for disorder are promising biomarker disorders, but they require evaluation in clinical setting.MethodsWe developed PRSs 6 (schizophrenia, bipolar disorder, major depressive cross attention-deficit/hyperactivity...
Importance Current Diagnostic and Statistical Manual of Mental Disorders (Fifth Edition) ( DSM-5 ) diagnoses substance use disorders rely on criterion count–based approaches, disregarding severity grading indexed by individual criteria. Objective To examine correlates alcohol disorder (AUD) across count-based groups (ie, mild, moderate, mild-to-moderate, severe), identify specific diagnostic criteria indicative greater severity, evaluate whether within mild-to-moderate AUD differentiate...
Significant evidence exists for the association between copy number variants (CNVs) and Autism Spectrum Disorder (ASD); however, most of this work has focused solely on diagnosis ASD. There is limited understanding impact CNVs 'sub-phenotypes' The objective paper to evaluate associations in differentially brain expressed (DBE) genes or previously implicated ASD/intellectual disability (ASD/ID) specific sub-phenotypes sample consisted 1590 cases European ancestry from Genome Project (AGP)...
The human brain consumes a disproportionate amount of the body’s overall metabolic resources, and evidence suggests that body may compete for substrate during development. Using perfusion MRI from large cross-sectional cohort, we examined developmental changes MRI-derived estimates metabolism, in relation to weight change. Nonlinear models demonstrated that, childhood, were inversely related age-related metabolism. This inverse relationship persisted through early adolescence, after which...
There are limited data on the neurocognitive correlates of childhood anxiety disorders. The objective this study was to examine whether visual and verbal memory deficits nonemotional stimuli (1) a shared feature three common disorders (social phobia, separation disorder, generalized disorder) or these restricted specific disorders, (2) present in offspring who possess at least one following established risk factors for parental history panic disorder (PD), major depressive (MDD). One hundred...