Inorganic phosphate (Pi) plays a critical function in many tissues of the body: for example, as
part of the hydroxyapatite in the skeleton and as a substrate for ATP synthesis. Pi is the main …

The physiological process of biomineralization is complex and deviation from it leads to a
variety of diseases. Progress in the past 10 years has enhanced understanding of the …

Abstract Germline SAMD9 and SAMD9L mutations (SAMD9/9L mut) predispose to
myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we …

Adrenal hypoplasia is a rare, life-threatening congenital disorder. Here we define a new
form of syndromic adrenal hypoplasia, which we propose to term MIRAGE (myelodysplasia …

Hepatocellular carcinoma (HCC) is one of the most common cancers worldwide and shows
a propensity to metastasize and infiltrate adjacent and more distant tissues. HCC is …

Several monogenic causes of familial myelodysplastic syndrome (MDS) have recently been
identified. We studied 2 families with cytopenia, predisposition to MDS with chromosome 7 …

Given the dramatic increase in skeletal size during growth, the need to preserve skeletal
mass during adulthood, and the large capacity of bone to store calcium and phosphate …

Increasing awareness about germline predisposition and the widespread application of
unbiased whole exome sequencing contributed to the discovery of new clinical entities with …

Ataxia-pancytopenia (AP) syndrome is characterized by cerebellar ataxia, variable
hematologic cytopenias, and predisposition to marrow failure and myeloid leukemia …

It is well established that somatic genomic changes can influence phenotypes in cancer, but
the role of adaptive changes in developmental disorders is less well understood. Here we …