Reza Maroofian

TL;DR: The results suggest that CSF1R is required for human brain development and establish the csf1rDM fish as a model for microgliopathies and exemplify an under-recognized form of phenotypic expansion.

TL;DR: The results show that de-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission.

TL;DR: The genetic studies identified mutations in B4GALNT1 (GM2 synthase), encoding the enzyme that catalyzes the second step in complex ganglioside biosynthesis, as the cause of this neurodegenerative phenotype, and confirmed a lack of GM2 in affected subjects in association with a predictable increase in levels of its precursor, GM3, a finding that will greatly facilitate diagnosis of this condition.

TL;DR: Overall, this study highlights the importance of family history and generation of databases for multiple ethnically discrete populations to improve the ability to detect and accurately interpret genetic variants for pathogenicity.

TL;DR: The natural history, clinical manifestations, genetics, and immunohematological findings in 14 patients from 11 families with ARPC1B deficiency delineating the spectrum of the disease that appears progressive and challenging to manage clinically are reported.