Background Autophagy is the major intracellular degradation route in mammalian cells.
Systemic ablation of core autophagy-related (ATG) genes in mice leads to embryonic or …

Recent studies revealed the power of whole-exome sequencing to identify mutations in
sporadic cases with non-syndromic intellectual disability. We now identified de novo missense …

Background Despite abundant evidence for pathogenicity of large copy number variants (CNVs)
in neurodevelopmental disorders (NDDs), the individual significance of genome-wide …

Purpose Microcephaly is a sign of many genetic conditions but has been rarely systematically
evaluated. We therefore comprehensively studied the clinical and genetic landscape of an …

A chromosomal balanced translocation disrupting the MED13L (Mediator complex subunit13-like)
gene, encoding a subunit of the Mediator complex, was previously associated with …

Early-onset epileptic encephalopathy (EE) and combined developmental and epileptic
encephalopathies (DEE) are clinically and genetically heterogeneous severely devastating …

We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals
in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 …

Cadherins constitute a family of transmembrane proteins that mediate calcium-dependent
cell-cell adhesion. The extracellular domain of cadherins consists of extracellular cadherin (EC…

Next-generation sequencing combined with international data sharing has enormously
facilitated identification of new disease-associated genes and mutations. This is particularly true …

Aortic dilatation/dissection (AD) can occur spontaneously or in association with genetic
syndromes, such as Marfan syndrome (MFS; caused by FBN1 mutations), MFS type 2 and Loeys–…