John W. Belmont

TL;DR: A fourth case of a 3‐year‐old female presenting with megalencephaly, obstructive hydrocephalus due to cerebral aqueductal stenosis, asymmetric polymicrogyria, dysgenesis of the corpus callosum, hypotonia, developmental delay, and cutaneous pigmentary mosaicism is reported, demonstrating the tissue variability in mosaic expression of the recurrent p.Thr1977Ile MTOR variant.

TL;DR: Analysis of a patient with features of moderate to severe Hunter syndrome identified a 178‐bp deletion upstream of IDS exon 1 spanning a predicted promoter element, pointing toward nonhomologous recombination as a possible mechanism for this mutation.

TL;DR: A retroviral vector expressing CD18 with the Moloney murine leukemia virus (Mo-MLV) long terminal repeat (LTR) as the promoter, and high-titer ecotropic and amphotropic producer cell lines were isolated using the GP+E-86 and GP+envAM12 safe packaging cell lines.

TL;DR: It is concluded that while it is possible to extract genomic DNA and subsequently perform whole-genome amplification from archived serum samples, WGA serum DNA did not perform well and appeared unsuitable for high-resolution genotyping on these arrays.

TL;DR: Heritability of individual amino acids varied according to the nutritional state, suggesting the amount of genetic and environmental influences differ among the operative systems that control individual amino acid homeostasis throughout the feed/fast cycle.