Kaya Bilguvar

TL;DR: This study presents a novel and scalable approach to genome analysis that aims to provide real-time information about the “building blocks” of Alzheimer’s disease and its progression through childhood and adolescence.

TL;DR: This is first report of the coexistence of CFEOM and Marcus Gunn jaw-winking phenomenon in a patient with a KIF21A mutation from Turkey.

TL;DR: In this article, a semi-quantitative flow injection-electrospray ionization-quadrupole time-of-flight mass spectrometry (ESI-QTOF/MS) N-glycan assay was used to detect subtle abnormalities in N glycans that normally account for <0.3% of the total plasma glycans that may increase up to 0.5% in females with the p(Asn107Ser) variant.

TL;DR: In this article, the authors identified six patients from three unrelated families with homozygous loss-of-function variants in NSRP1, which is a ubiquitously expressed splicing regulator not known to underlie a Mendelian disorder.

TL;DR: In this paper, the authors reported 28 bi-allelic variants in SPATA5L1 associated with sensorineural hearing loss in 47 individuals from 28 (26 unrelated) families, and 25/47 affected individuals presented with microcephaly, developmental delay/intellectual disability, cerebral palsy, and/or epilepsy.