A5007970056- Genetic Associations and Epidemiology
- Genetic Mapping and Diversity in Plants and Animals
- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Genomic variations and chromosomal abnormalities
- Genetic and phenotypic traits in livestock
- Bioinformatics and Genomic Networks
- Genomics and Chromatin Dynamics
- Muscle Physiology and Disorders
- Genomics and Rare Diseases
- Congenital heart defects research
- Virology and Viral Diseases
- Statistical Mechanics and Entropy
- Evolution and Genetic Dynamics
- Genetics and Plant Breeding
- Child and Adolescent Psychosocial and Emotional Development
- Gene expression and cancer classification
- Diabetes and associated disorders
- RNA Research and Splicing
- Adipose Tissue and Metabolism
- RNA and protein synthesis mechanisms
- Epigenetics and DNA Methylation
- Gene Regulatory Network Analysis
- Genetic factors in colorectal cancer
- BRCA gene mutations in cancer
The Ohio State University
2012-2023
Nationwide Children's Hospital
2012-2021
Battelle
2010-2021
University of Iowa
1998-2014
Rutgers, The State University of New Jersey
2013
Statistical Service
2011-2013
Children’s Institute
2007
Faculty of Public Health
2004-2005
Statistical Research (United States)
2005
Cancer Research And Biostatistics
2001
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,...
A learning health system (LHS) integrates research done in routine care settings, structured data capture during every encounter, and quality improvement processes to rapidly implement advances new knowledge, all with active meaningful patient participation. While disease-specific pediatric LHSs have shown tremendous impact on improved clinical outcomes, a national digital architecture across multiple conditions does not exist. PEDSnet is network that provides the infrastructure support LHS....
We examined WNT2 as a candidate disease gene for autism the following reasons. First, WNT family of genes influences development numerous organs and systems, including central nervous system. Second, is located in region chromosome 7q31-33 linked to adjacent chromosomal breakpoint an individual with autism. Third, mouse knockout Dvl1, member essential function pathway, exhibits behavioral phenotype characterized primarily by diminished social interaction. screened coding sequence mutations...
We investigated the effect of incorporating information about proband and parental structural language phenotypes into linkage analyses in two regions for which we found highest signals our first-stage affected sibling pair genome screen: chromosomes 13q 7q. were particularly interested following up on chromosome 7q finding light prior reports this region to developmental disorder, since one diagnostic criteria autism is absent or abnormal development. hypothesized that if phenotype...
Panic disorder is characterized by spontaneous and recurrent panic attacks, often accompanied agoraphobia. The results of family, twin, segregation studies suggest a genetic role in the etiology illness. We have genotyped up to 23 families that high density with 540 microsatellite DNA markers first-pass genomic screen. thirteen best (ELOD > 6.0 under dominant model) been an ordered set encompassing all autosomes, at average marker 11 cM. Over 110,000 genotypes generated on whole families,...
<h3>Background</h3> Autism spectrum disorder (ASD) is characterised by impairments in social communication and a pattern of repetitive behaviours, with learning disability (LD) typically seen up to 70% cases. A recent study using the PPL statistical framework identified novel region genetic linkage on chromosome 16q21 that limited ASD families LD. <h3>Methods</h3> In this study, two autism and/or LD are described which harbour rare >1.6 Mb microdeletions located within region. The...
Background:Papillary thyroid carcinoma (PTC) shows high heritability, yet efforts to find predisposing genes have been largely negative.
Abstract When a disease is controlled by two or more mendelian loci acting epistatically, it can be modeled in linkage analysis as single‐locus with reduced penetrance. However, the reliability of such an approximation has not yet been demonstrated. This study evaluates adequacy approximations, when under investigation determined loci, one which tightly linked to genetic marker. A wide range two‐locus models were simulated, and analyzed both correct model that model. In general,...
Specific language impairment is a neurodevelopmental disorder characterized by impairments essentially restricted to the domain of and learning skills. This contrasts with autism, which pervasive developmental defined multiple in language, social reciprocity, narrow interests and/or repetitive behaviors. Genetic linkage studies family data suggest that two disorders may have genetic components common. Two samples, from Canada US, selected for specific were genotyped at loci where such common...
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 ≤...
Objective Duchenne muscular dystrophy (DMD) is a severe X‐linked recessive disease caused by loss‐of‐function dystrophin ( DMD ) mutations in boys, who typically suffer loss of ambulation age 12. Previously, we reported that coding variants latent transforming growth factor beta (TGFβ)‐binding protein 4 LTBP4 were associated with reduced TGFβ signaling and prolonged p = 1.0 × 10 −3 patients; this result was subsequently replicated other groups. In study, evaluated whether additional modifier...
In a long-term follow-up of study designed to assess the impact school-based suicide prevention curricula on high school students, group 174 students from two schools who were exposed program compared with 207 control additional not curriculum. A questionnaire, measure effects actual help-seeking behaviors and morbidity during period, was administered 18 months after delivery program. The failed find convincing evidence any effect.
Due in part to an influential paper by Risch and Merikangas [(1996) Science 273:1516-1517], which suggested that disequilibrium tests would have greater power detect genes of small effect than linkage tests, interest the use Transmission Disequilibrium Test (TDT) as analysis tool for genomewide studies is steadily growing. However, made several simplifying assumptions. One such assumption was underlying gene showed allelic homogeneity, another allele being measured actual susceptibility...
Abstract A mutation in the gene FOXP2 was recently identified as being responsible for a complicated speech and language phenotype single large extended pedigree. This is of interest to autism because it lies one most consistently linked chromosomal regions interest. We therefore tested this its involvement sample families. completely sequenced exon containing mutation, screened remaining coding sequence using SSCP technology, genotyped two novel intronic tetranucleotide repeat polymorphisms...
The development of rigorous methods for evaluating the overall strength evidence genetic linkage based on multiple sets data is becoming increasingly important in connection with genomic screens complex disorders. We consider here what happens when we attempt to increase power detect by pooling independently collected families under conditions variable levels locus heterogeneity across samples. show that can be substantially reduced pooled samples compared most informative constituent...
Autism is a highly heritable neurodevelopmental syndrome with complex genetic etiology for which no disease genes have yet been definitively identified. We ascertained three subjects autism spectrum disorders and chromosome 2q37.3 terminal deletions, refined the deletion breakpoint regions using polymorphism mapping fluorescence in situ hybridization (FISH) probes. then genotyped polymorphic markers downstream from region sample of affected sibling pair families. Both chromosomal breakpoints...