Maria Kibaek

TL;DR: Even if most clinical features of MED13L-related intellectual disability are rather non-specific, the syndrome may be suspected in some individuals based on the association of developmental delay, speech impairment, bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance.

TL;DR: These results establish deleterious variation in RFX3, RFX4, and RFX7 as important causes of monogenic intellectual disability, ADHD and ASD, and position these genes as potentially critical transcriptional regulators of neurobiological pathways associated with neurodevelopmental disease pathogenesis.

TL;DR: A novel childhood-onset neurometabolic disease caused by choline transporter deficiency with autosomal recessive inheritance is described and choline treatments could restore the membrane lipids, repair cellular organelles and protect mutant cells from acute iron overload.

TL;DR: In this article, the authors reported clinical and molecular data for 50 individuals with Intellectual Disabilities harboring DYRK1A variants and developed tools to improve interpretation of missense variants, which remains a major challenge in human genetics.

TL;DR: Four novel PDHA1 mutations in patients with pyruvate dehydrogenase deficiency are reported, including a duplication and two missense mutations associated with decreased amounts of E1α And E1β protein on western blot analysis, whereas the other two mutations were associated with normal amounts.