Mesenchymal stromal cells (MSCs), also known as mesenchymal stem cells, have been
intensely investigated for clinical applications within the last decades. However, the majority …

Primary microcephaly (MCPH, for “microcephaly primary hereditary”) is a disorder of brain
development that results in a head circumference more than 3 standard deviations below …

Strategies to optimize clinical genetic diagnostic pathways by combining both targeted and
next-generation sequencing are discussed. In addition to improved genetic counseling …

The 22q11. 2 deletion syndrome (22q11. 2DS) is a congenital malformation and
neuropsychiatric disorder caused by meiotic chromosome rearrangements. One of the goals …

Cranial sutures are major growth centers for the calvarial vault, and their premature fusion
leads to a pathologic condition called craniosynostosis. This study investigates whether …

Background Craniosynostosis, the premature fusion of one or more cranial sutures, occurs
in∼ 1 in 2250 births, either in isolation or as part of a syndrome. Mutations in at least 57 …

High-throughput sequencing has become a standard first-tier approach for both diagnostics
and research-based genetic testing. Consequently, this hypothesis-free testing manner has …

Ribosomal RNAs (rRNAs) in budding yeast are encoded by~ 100–200 repeats of a 9.1 kb
sequence arranged in tandem on chromosome XII, the ribosomal DNA (rDNA) locus. Copy …

During genome replication, polymerase epsilon (Pol ε) acts as the major leading-strand
DNA polymerase. Here we report the identification of biallelic mutations in POLE, encoding …

Abstract Background 22q11. 2 deletion syndrome (22q11DS), a copy number variation
(CNV) disorder, occurs in approximately 1: 4000 live births due to a heterozygous …