Neurodevelopmental disorders (NDDs) are multifaceted pathologic conditions manifested
with intellectual disability, autistic features, psychiatric problems, motor dysfunction, and/or …

Several new genes and pathways have been identified in recent years associated with
human errors of sex-determination or DSD. SOX family gene mutations, as well as mutations …

Summary The Sonic Hedgehog (SHH) morphogen pathway is fundamental for embryonic
development and stem cell maintenance and is implicated in various cancers. A key step in …

Methylation of several lysine residues of histones is a crucial mechanism for relatively long-
term regulation of genomic activity. Recent molecular biological studies have demonstrated …

Biallelic variants of the gene encoding for the zinc‐finger protein 142 (ZNF142) have
recently been associated with intellectual disability (ID), speech impairment, seizures, and …

HERC1 is a member of HERC protein family of ubiquitin ligases and is a negative regulator
of the mTOR pathway. It is also a guanine nucleotide exchange factor for ARF and Rab …

Hedgehog acyltransferase (Hhat), a member of the membrane-bound O-acyltransferase
(MBOAT) family, catalyses the covalent attachment of palmitate to the N-terminus of …

Germline mutations in canonical SET-methyltransferases have been identified in autism and
intellectual disability syndromes and gain-of-function somatic alterations in EZH2, MLL3 …

We report two siblings with microcephaly, early infantile onset seizures, and cerebellar
vermis hypoplasia, in whom whole exome sequencing revealed a novel homozygous …

Nab2 encodes the Drosophila melanogaster member of a conserved family of zinc finger
polyadenosine RNA-binding proteins (RBPs) linked to multiple steps in post-transcriptional …