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We consider panel count data which are frequently obtained in prospective studies involving recurrent events that are only detected and recorded at periodic assessment times. The data take the form of counts of the cumulative number of events detected at each inspection time, along with explanatory covariates. Examples arise in diverse areas such as(More)
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(More)
We consider here scalar aggregation queries in databases that may violate a given set of functional dependencies. We define consistent answers to such queries to be greatest lowest/least upper bounds on the value of the scalar function across all (minimal) repairs of the database. We show how to compute such answers. We provide a complete characterization(More)
A novel member of the organic anion transporter (OAT) family, Oat5 (Slc22a19), has been reported to transport a naturally occurring mycotoxin, ochratoxin A (OTA). However, neither its endogenous substrate and driving force nor physiological functions have been determined. Herein, we report the functional characterization of rat Oat5 (rOat5), as well as its(More)
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(More)
We present a new linear time algorithm for nding rectangular duals of planar triangular graphs. The algorithm is conceptually simpler than the previous known algorithm. The coordinates of the rectangular dual constructed by our algorithm are integers and have pure combinatorial meaning. This allows us to discuss the heuristics for minimizing the size of the(More)
De novo mutations affect risk for many diseases and disorders, especially those with early-onset. An example is autism spectrum disorders (ASD). Four recent whole-exome sequencing (WES) studies of ASD families revealed a handful of novel risk genes, based on independent de novo loss-of-function (LoF) mutations falling in the same gene, and found that de(More)
Human organic anion transporter 4 (OAT4) is an apical organic anion/dicarboxylate exchanger in the renal proximal tubules and mediates high-affinity transport of steroid sulfates such as estrone-3-sulfate (E1S) and dehydroepiandrosterone sulfate. Here, two multivalent PDZ (PSD-95/Discs Large/ZO-1) proteins PDZK1 and NHERF1 were examined as interactors of(More)
Panel count data often occur in long-term studies that concern occurrence rate of a recurrent event. Methods have been proposed for regression analysis of panel count data, but most of the existing research focuses on situations where observation times are independent of longitudinal response variables and therefore rely on conditional inference procedures(More)
Enhancers instruct spatio-temporally specific gene expression in a manner tightly linked to higher-order chromatin architecture. Critical chromatin architectural regulators condensin I and condensin II play non-redundant roles controlling mitotic chromosomes. But the chromosomal locations of condensins and their functional roles in interphase are poorly(More)