Aziz Mhanni

TL;DR: Variants in SLC39A8 impair the function of manganese-dependent enzymes, most notably β-1,4-galactosyltransferase, a Golgi enzyme essential for biosynthesis of the carbohydrate part of glycoproteins that leads to a severe disorder with deformed skull, severe seizures, short limbs, profound psychomotor retardation, and hearing loss.

TL;DR: An autosomal-recessive disorder in six individuals from the Hutterite community and in an unrelated Egyptian sibpair is described, providing insight into the roles of Mn and Zn homeostasis in human health and development.

TL;DR: These studies are unique as they show for the first time that the 1q21.1 CNV not only causes changes in the expression of its key integral genes, associated with changes at the protein level, but also results in changes in their known function and newly identified function such as DCC activation in the case of CHD1L/ALC1.

TL;DR: Dental abnormalities of permanent teeth were seen in all 8 patients with Kabuki (Niikawa–Kuroki) syndrome and it is believed the presence of the unique dental findings will prove useful in the diagnostic assessment of individuals with KS.

TL;DR: The view that screening for subtelomere rearrangements has a greater positive yield than other commonly used genetic investigations and, if cost and resources permit, should be the next diagnostic test of choice in a child with unexplained MR/dysmorphisms and a normal 550 G‐band karyotype is supported.