With a prevalence between 1 and 3%, hereditary forms of intellectual disability (ID) are among
the most important problems in health care. Particularly, autosomal-recessive forms of the …

Background Colorectal cancer (CRC) is with approximately 1 million cases the third most
common cancer worldwide. Extensive research is ongoing to decipher the underlying genetic …

We carried out whole-genome homozygosity mapping, gene expression analysis and DNA
sequencing in individuals with isolated mitochondrial ATP synthase deficiency and identified …

Cranioectodermal dysplasia (CED) is a disorder characterized by craniofacial, skeletal, and
ectodermal abnormalities. Most cases reported to date are sporadic, but a few familial cases …

Mental retardation/intellectual disability is a devastating neurodevelopmental disorder with
serious impact on affected individuals and their families, as well as on health and social …

Autosomal recessive gene defects are arguably the most important, but least studied genetic
causes of severe cognitive dysfunction. Homozygosity mapping in 78 consanguineous …

The genetic variants leading to impairment of intellectual performance are highly diverse
and are still poorly understood. ST3GAL3 encodes the Golgi enzyme β-galactoside-α2,3-…

Background Primary microcephaly (MCPH) is a genetically heterogeneous disorder showing
an autosomal recessive mode of inheritance. Affected individuals present with head …

Aims Inflammation is a key driver of atherosclerosis and myocardial infarction (MI), and beyond
proteins and microRNAs (miRs), long noncoding RNAs (lncRNAs) have been implicated …

One of the central research questions on the etiology of Alzheimer’s disease (AD) is the
elucidation of the molecular signatures triggered by the amyloid cascade of pathological events. …