A systematic classification and accepted nomenclature of neuron types is much needed but
is currently lacking. This article describes a possible taxonomical solution for classifying …

… Lawrence Marsh d , Susanne Tilp e , Reinhard Schnettler e , Hamish Simpson f , Volker Alt
… Daniel Fitzpatrick has received licensing and consulting income from Zimmer and Synthes …

The majority of rare diseases affect children, most of whom have an underlying genetic cause
for their condition. However, making a molecular diagnosis with current technologies and …

Background Human genome sequencing has transformed our understanding of genomic
variation and its relevance to health and disease, and is now starting to enter clinical practice …

Congenital heart defects (CHDs) have a neonatal incidence of 0.8–1% (refs. 1 , 2 ). Despite
abundant examples of monogenic CHD in humans and mice, CHD has a low absolute …

Candida species are the most common cause of opportunistic fungal infection worldwide.
Here we report the genome sequences of six Candida species and compare these and related …

The role of DNA methylation and of the maintenance DNA methyltransferase Dnmt1 in the
epigenetic regulation of developmental stage- and cell lineage-specific gene expression in …

Horizontal connections, formed primarily by the axon collaterals of pyramidal neurons in layer
2/3 of visual cortex, extend for millimeters parallel to the cortical surface and form patchy …

Purpose Given the rapid pace of discovery in rare disease genomics, it is likely that improvements
in diagnostic yield can be made by systematically reanalyzing previously generated …

The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology.org
, provides a structured, comprehensive and well-defined set of 10,088 classes (…