Violet Gelowani

发表

Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki–Lupski syndrome

J. Lupski, P. Liu, L. Potocki, 2014, American journal of medical genetics. Part A.

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

Li Zhao, Fei Wang, Yong Chen, 2017, BMC Bioinformatics.

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

J. Lupski, R. Gibbs, E. Boerwinkle, 2014, Cell.

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

Klaudia Walter, M. Hurles, P. Stankiewicz, 2017, Cell.

ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.

Yumei Li, Rui Chen, D. Creel, 2015, Investigative ophthalmology & visual science.

Comprehensive analysis of Stargardt macular dystrophy patients reveals new genotype-phenotype correlations and unexpected diagnostic revisions

Yumei Li, Rui Chen, Hui Wang, 2014, Genetics in Medicine.

Genetics ATF 6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement

Yumei Li, Rui Chen, D. Creel, 2015 .

Comprehensive analysis of patients with Stargardt macular

Yumei Li, Rui Chen, Hui Wang, 2015 .

Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.

J. Lupski, V. Drory, J. Higgins, 2014, American journal of human genetics.

Chromosomal microarray analysis, or comparative genomic hybridization: A high throughput approach

A. Beaudet, Mohammad Haeri, Violet Gelowani, 2015, MethodsX.

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

J. Lupski, S. Cheung, A. Munnich, 2015, American journal of human genetics.

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Gao T. Wang, Mahshid S. Azamian, M. Hurles, 2013, American journal of human genetics.

ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.

Yumei Li, Rui Chen, D. Creel, 2015, Investigative ophthalmology & visual science.

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

J. Lupski, R. Gibbs, E. Boerwinkle, 2014, Cell.