Violet Gelowani

Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function

Ender Karaca, Stefan Weitzer, Davut Pehli̇van et al. · Cell · 2014 · 220 citations · Full text

Affecting Both Peripheral, Knockout Mouse, Genome Instability +8

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome

Bo Yuan, Tamar Harel, Shen Gu et al. · The American Journal of Human Genetics · 2015 · 70 citations · Full text

Genetic Disorder, Genetics, Molecular Biology +9

<i>ATF6</i>Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement

Mingchu Xu, Violet Gelowani, Aiden Eblimit et al. · Investigative Ophthalmology & Visual Science · 2015 · 58 citations · Full text

SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data

Yong Chen, Li Zhao, Yi Wang et al. · BMC Bioinformatics · 2017 · 58 citations · Full text

TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities

Wojciech Wiszniewski, Jill V. Hunter, Neil A. Hanchard et al. · The American Journal of Human Genetics · 2013 · 56 citations · Full text

Neurodevelopmental Disorders, Language Disorder, White Matter +13