E. Beaver

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.

B. V. van Bon, A. Hoischen, J. Lupski, 2018, American journal of human genetics.

De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.

S. Antonarakis, Xiang-Jiao Yang, E. Beaver, 2020, American journal of human genetics.

Mobile element insertion detection in 89,874 clinical exomes

E. Beaver, J. Heeley, S. Neil, 2020, Genetics in Medicine.

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability

I. Krantz, L. Medne, E. Beaver, 2017, Journal of Medical Genetics.

Further delineation of putative ACTB loss‐of‐function variants: A 4‐patient series

F. Santos-Simarro, E. Beaver, G. Povysil, 2020, Human mutation.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

M. Reijnders, W. Chung, A. Munnich, 2020, Genetics in Medicine.

Mobile element insertion detection in 89,874 clinical exomes

E. Beaver, S. Neil, Kevin Galens, 2020, Genetics in Medicine.