Michael A. Schmidt

Learn More
BACKGROUND Autism spectrum disorder (ASD) is highly heritable, yet genome-wide association studies (GWAS), copy number variation screens, and candidate gene association studies have found no single factor accounting for a large percentage of genetic risk. ASD trio exome sequencing studies have revealed genes with recurrent de novo loss-of-function variants(More)
BACKGROUND Autism spectrum disorders (ASDs) comprise a range of neurodevelopmental conditions of varying severity, characterized by marked qualitative difficulties in social relatedness, communication, and behavior. Despite overwhelming evidence of high heritability, results from genetic studies to date show that ASD etiology is extremely heterogeneous and(More)
Is the annoyance of snoring a reliable tool for the measurement of snoring or does it depend more on the sensitivity of the listener? During an automatized hearing experiment, 550 representative snoring sequences, recorded during polysomnography, were randomly presented to ten examiners for the evaluation of their annoyance (0-100). The mean annoyance score(More)
Intellectual disability (ID), often attributed to autosomal-recessive mutations, occurs in 40% of autism spectrum disorders (ASDs). For this reason, we conducted a genome-wide analysis of runs of homozygosity (ROH) in simplex ASD-affected families consisting of a proband diagnosed with ASD and at least one unaffected sibling. In these families, probands(More)
Space flight is one of the most extreme conditions encountered by humans. Advances in Omics methodologies (genomics, transcriptomics, proteomics, and metabolomics) have revealed that unique differences exist between individuals. These differences can be amplified in extreme conditions, such as space flight. A better understanding of individual differences(More)
Pathway analysis based on Genome-Wide Association Studies (GWAS) data has become popular as a secondary analysis strategy. Although many pathway analysis tools have been developed for case-control studies, there is no tool that can use all information from raw genotypes in general nuclear families. We developed Pathway-PDT, which uses the framework of(More)
We consider a scenario for the Quark-Lepton Complementarity (QLC) relations between mixing angles in which the bi-maximal mixing follows from the neutrino mass matrix. According to this scenario in the lowest order the angle θ12 is ∼ 1σ (1.5 − 2 •) above the best fit point coinciding practically with the tri-bimaximal prediction. Realization of this(More)
Metabolomics is the comprehensive study of the metabolome, the repertoire of biochemicals (or small molecules) present in cells, tissues, and body fluids. The study of metabolism at the global or “-omics” level is a rapidly growing field that has the potential to have a profound impact upon medical practice. At the center of metabolomics, is the concept(More)
To identify genes and biologically relevant pathways associated with risk to develop multiple sclerosis (MS), the Genome-Wide Association Studies noise reduction method (GWAS-NR) was applied to MS genotyping data. Regions of association were defined based on the significance of linkage disequilibrium blocks. Candidate genes were cross-referenced based on a(More)
We propose a new approach to the LHC dark matter search analysis within the effective field theory (EFT) framework by utilising the K-matrix unitarisation formalism. This approach provides a reasonable estimate of the dark matter production cross section at high energies, and hence allows reliable bounds to be placed on the cutoff scale of relevant(More)