Brain development and function depend on the precise regulation of gene expression.
However, our understanding of the complexity and dynamics of the transcriptome of the human …

Cornelia de Lange syndrome (CdLS) is a multiple malformation disorder characterized by
dysmorphic facial features, mental retardation, growth delay and limb reduction defects 1 , 2 . …

Messenger RNA encodes cellular function and phenotype. In the context of human cancer, it
defines the identities of malignant cells and the diversity of tumor tissue. We studied 72,501 …

The evolution of gene expression in mammalian organ development remains largely
uncharacterized. Here we report the transcriptomes of seven organs (cerebrum, cerebellum, heart, …

INTRODUCTION The thymus is the critical organ for T cell development and T cell receptor (TCR)
repertoire formation, which shapes the landscape of adaptive immunity. T cell …

The cellular landscape of the human intestinal tract is dynamic throughout life, developing
in utero and changing in response to functional requirements and environmental exposures. …

Definitive haematopoiesis in the fetal liver supports self-renewal and differentiation of
haematopoietic stem cells and multipotent progenitors (HSC/MPPs) but remains poorly defined in …

INTRODUCTION Human skin provides vital protection from water loss and from external insult
through structural adaptations and interplay with the innate and adaptive immune systems…

Tissue-resident immune cells are important for organ homeostasis and defense. The epithelium
may contribute to these functions directly or by cross-talk with immune cells. We used …

Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly
horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-…