[HTML][HTML] Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays

N Homer, S Szelinger, M Redman, D Duggan… - PLoS …, 2008 - journals.plos.org
We use high-density single nucleotide polymorphism (SNP) genotyping microarrays to
demonstrate the ability to accurately and robustly determine whether individuals are in a complex …

Identification of genetic variants using bar-coded multiplexed sequencing

DW Craig, JV Pearson, S Szelinger, A Sekar… - Nature …, 2008 - nature.com
… discovery Bayes factor, where K s is the Bayes factor for polymorphism discovery for the s
th base as derived in equation 2> (see Methods). An example plot of K s across each base (of …

[HTML][HTML] Whole-genome analysis of sporadic amyotrophic lateral sclerosis

…, DW Craig, JV Pearson, S Szelinger… - New England journal …, 2007 - Mass Medical Soc
Background Approximately 90% of persons with amyotrophic lateral sclerosis (ALS) have
the sporadic form, which may be caused by the interaction of multiple environmental factors …

Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder

…, F Streit, J Strohmaier, S Szelinger… - Human molecular …, 2016 - academic.oup.com
Bipolar disorder (BD) is a genetically complex mental illness characterized by severe
oscillations of mood and behaviour. Genome-wide association studies (GWAS) have identified …

Enrichment of cis-regulatory gene expression SNPs and methylation quantitative trait loci among bipolar disorder susceptibility variants

…, S Zöllner, P Zhang, DW Craig, S Szelinger… - Molecular …, 2013 - nature.com
We conducted a systematic study of top susceptibility variants from a genome-wide
association (GWA) study of bipolar disorder to gain insight into the functional consequences of …

Rare variants in neuronal excitability genes influence risk for bipolar disorder

SA Ament, S Szelinger, G Glusman… - Proceedings of the …, 2015 - National Acad Sciences
We sequenced the genomes of 200 individuals from 41 families multiply affected with bipolar
disorder (BD) to identify contributions of rare variants to genetic risk. We initially focused on …

Singleton deletions throughout the genome increase risk of bipolar disorder

…, MG McInnis, S Zöllner, D Craig, S Szelinger… - Molecular …, 2009 - nature.com
An overall burden of rare structural genomic variants has not been reported in bipolar disorder
(BD), although there have been reports of cases with microduplication and microdeletion. …

[PDF][PDF] Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide–polymorphism association studies

…, S Melquist, N Homer, M Brun, S Szelinger… - The American Journal of …, 2007 - cell.com
We report the development and validation of experimental methods, study designs, and
analysis software for pooling-based genomewide association (GWA) studies that use high-…

Chronotype and cellular circadian rhythms predict the clinical response to lithium maintenance treatment in patients with bipolar disorder

…, C Slaney, E Stapp, S Szelinger… - …, 2019 - nature.com
Bipolar disorder (BD) is a serious mood disorder associated with circadian rhythm abnormalities.
Risk for BD is genetically encoded and overlaps with systems that maintain circadian …

[HTML][HTML] The Pharmacogenomics of Bipolar Disorder study (PGBD): identification of genes for lithium response in a prospective sample

…, H Schoeyen, T Shekhtman, PD Shilling, S Szelinger… - BMC psychiatry, 2016 - Springer
… for future contact, as well as the names, addresses and telephone numbers of two individuals
likely to know the subject’s future whereabouts, and the subject’s driver’s license number. …