Matthew A Deardorff

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Genetics in Medicine · 2022-09-09 · 50 citations

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

The American Journal of Human Genetics · 2023-04-12 · 36 citations

<i>SPTSSA</i> variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

Brain · 2023-01-30 · 34 citations

Sphingolipids are a diverse family of lipids with critical structural and signalling functions in the mammalian nervous system, where they are abundant in myelin membranes. Serine palmitoyltransferase, the enzyme that catalyses the rate-limiting reaction of sphingolipid synthesis, is composed of multiple subunits including an activating subunit, SPTSSA. Sphingolipids are both essential and cytotoxic and their synthesis must therefore be tightly regulated. Key to the homeostatic regulation are th…

16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome

Genes · 2025-01-24 · 1 citations

Background: KBG syndrome is a multisystem developmental disorder characterized by macrodontia of the upper permanent incisors, distinctive facial features, a short stature, developmental delay, variable intellectual disability, and behavioral issues. Heterozygous chromosomal deletion encompassing the partial or entire ANKRD11 gene, as well as the loss of function mutations, result in haploinsufficiency of the gene, leading to KBG syndrome. This indicates that precise levels of ANKRD11 transcript…

Autonomous drone behavior via MCDM of UFOMap layers

2024-04-19 · 1 citations