Tomasz Zemojtel

TL;DR: This study, the largest published so far, has revealed additional mutations in 23 genes previously implicated in intellectual disability or related neurological disorders, as well as single, probably disease-causing variants in 50 novel candidate genes.

TL;DR: The progress of the HPO project is reviewed, including specific areas of expansion such as common (complex) disease, new algorithms for phenotype driven genomic discovery and diagnostics, integration of cross-species mapping efforts with the Mammalian Phenotype Ontology, an improved quality control pipeline, and the addition of patient-friendly terminology.

TL;DR: Although the AtNOS1 sequence has no similarities to any mammalian NOS isoform, the cloned and purified AtNos1 protein was demonstrated to use the substrates arginine and nicotinamide adenine dinucleotide phosphate to produce NO.

TL;DR: This protocol provides a detailed explanation of how to install Exomiser and use it to prioritize exome sequences in a number of scenarios, including novel disease-gene discovery or differential diagnosis of Mendelian disease.

TL;DR: It is suggested that systematic sequencing of all X-chromosomal genes in a cohort of patients with genetic evidence for X- Chromosome locus involvement may resolve up to 58% of Fragile X-negative cases.