Zachry T. Soens

Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort

Hui Wang, Xia Wang, Xuan Zou et al. · Investigative Ophthalmology & Visual Science · 2015 · 107 citations · Full text

Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland

Li Zhao, Feng Wang, Hui Wang et al. · Human Genetics · 2014 · 93 citations · Full text

Bioinformatics, Dna Sequencing, Retinitis Pigmentosa +13

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

Mingchu Xu, Ya‐Jing Xie, Hana Abouzeid et al. · The American Journal of Human Genetics · 2017 · 77 citations · Full text

Ocular Disease, Developmental Biology, Retina +8

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

Philip M. Boone, Ian M. Campbell, Brett Baggett et al. · Genome Research · 2013 · 70 citations · Full text

Genetics, Genetic Epidemiology, Pathology +19

Leveraging splice‐affecting variant predictors and a minigene validation system to identify Mendelian disease‐causing variants among exon‐captured variants of uncertain significance

Zachry T. Soens, Justin Branch, Shijing Wu et al. · Human Mutation · 2017 · 44 citations · Full text

Uncertain Significance, Genetics, Genetic Epidemiology +20