Kevin L. Gunderson

TL;DR: A patient whose dysmorphism at birth was not diagnostic for Pallister–Killian syndrome (PKS) was found to have mosaic tetrasomy 12p by an array‐based comparative genomic hybridization of peripheral blood DNA.

TL;DR: It is concluded that ST6GALNAC5 mutations can cause CAD, and there is substantial literature suggesting a relation between sialyltransferase and sialic acid levels and coronary disease.

TL;DR: In this article, a technique for sequencing nucleic acids in an automated or semi-automated manner is disclosed, in which sample arrays of a multitude of nucleic acid sites are processed in multiple cycles to add nucleotides to the material to be sequenced, detect the nucleotide added to sites, and to de-block the added nucleotide of blocking agents and tags used to identify the last added nucleotide. Quality control routines are run during sequencing to determine quality of samples, and quality of the data collected.

TL;DR: In this paper, a composition can include a nanopore including a first side, a second side, and an aperture extending through the first and second sides; and a permanent tether including head and tail regions and an elongated body disposed therebetween.

TL;DR: It is proposed that the CBLB gene is responsible for the craniofacial phenotype in patients with deletions of proximal 3q region based on previously published data and clinical, cytogenetic and molecular findings of a 20‐month‐old Hispanic male.