Kendall C. Parks

Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders

D. Lev, E. Sherr, T. Lerman-Sagie, 2021, Journal of human genetics.

Loss of Non-motor Kinesin KIF26A Causes Congenital Brain Malformations via Dysregulated Neuronal Migration and Axonal Growth as well as Apoptosis

E. M. DeGennaro, J. Lupski, K. Im, 2022, Developmental cell.

ANKLE2 ‐related microcephaly: A variable microcephaly syndrome resembling Zika infection

F. Alkuraya, H. Bellen, G. Demmler-Harrison, 2022, Annals of clinical and translational neurology.

Overcoming presynaptic effects of VAMP2 mutations with 4‐aminopyridine treatment

Shaun A. Hussain, M. Shinawi, B. Paul, 2020, Human mutation.

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

A. Pagnamenta, J. Lupski, T. Nägele, 2021, American journal of human genetics.

Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders

D. Lev, E. Sherr, T. Lerman-Sagie, 2021, Journal of Human Genetics.

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

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

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.