Bats possess extraordinary adaptations, including flight, echolocation, extreme longevity
and unique immunity. High-quality genomes are crucial for understanding the molecular …

The emergence of novel sequencing technologies has greatly improved the identification of
structural variation, revealing that a human genome harbors tens of thousands of structural …

The development of the human cerebral cortex is a complex and dynamic process, in which
neural stem cell proliferation, neuronal migration, and post-migratory neuronal organization …

Heterozygous pathogenic variants in DNM1 cause developmental and epileptic
encephalopathy (DEE) as a result of a dominant-negative mechanism impeding vesicular …

Fas Apoptosis Inhibitory Molecule (FAIM) is an anti-apoptotic protein that is up-regulated in
B cell receptor (BCR)-activated B cells and confers upon them resistance to Fas-mediated …

Intellectual disability (ID) is characterized by significant limitations in both intellectual
functioning and adaptive behaviors, originating before the age of 18 years. However, the …

DNM1 developmental and epileptic encephalopathy (DEE) is characterized by severe to
profound intellectual disability, hypotonia, movement disorder, and refractory epilepsy …

Abstract Fas Apoptotic Inhibitory Molecule protein (FAIM) is a death receptor antagonist and
an apoptosis regulator. It encodes two isoforms, namely FAIM‐S (short) and FAIM‐L (long) …

MicroRNAs (or miRNAs) are short nucleotide sequences (~ 17–22 bp long) that play
important roles in gene regulation through targeting genes in the 3′ untranslated regions …

Abstract Purpose The 22q11. 2 deletion syndrome (22q11. 2DS) is the most common
microdeletion in humans, with highly variable phenotypic expression. Whereas congenital …