Rebekah Barrick

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Karin, A. Need, M. Kayikci, 2022, medRxiv.

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder

T. Kleefstra, C. Fagerberg, M. Kurian, 2021, medRxiv.

Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes

F. Del Bene, C. Compagnucci, M. Tartaglia, 2022, Human molecular genetics.

Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene

D. Gudbjartsson, A. Jonasdottir, Á. Jónasdóttir, 2022, Nature Communications.

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

A. Need, M. Kayikci, D. Smedley, 2023, American journal of human genetics.