Xinjing Wang
National Institutes of Health
8 Papers
50 Citations
Xinjing Wang is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Genetic testing & Retinitis pigmentosa. The author has an hindex of 5, co-authored 8 publications.
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Papers
Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.
Lori S. Sullivan,Sara J. Bowne,Melissa Reeves,Delphine Blain,Kerry Goetz,Vida Ndifor,Sally Vitez,Xinjing Wang,Santa J. Tumminia,Stephen P. Daiger +9 more
TL;DR: The Laboratory for Molecular Diagnosis of Inherited Eye Disease at the University of Texas in Houston has thus far received DNA samples from 170 families with a diagnosis of adRP from the eyeGENE Network, and the frequencies of disease-causing mutations in the 12 genes were consistent with previous studies.
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NGS-based Molecular diagnosis of 105 eyeGENE® probands with Retinitis Pigmentosa
Zhongqi Ge,Kristen Bowles,Kerry Goetz,Hendrik P. N. Scholl,Feng Wang,Xinjing Wang,Shan Xu,Keqing Wang,Hui Wang,Rui Chen +9 more
TL;DR: This study carried out a pilot study and performed Next-generation sequencing (NGS) based molecular diagnosis for 105 Retinitis Pigmentosa patients randomly selected from the network, demonstrating that NGS target sequencing is efficient and sufficiently precise for molecular diagnosis of a highly heterogeneous patient cohort from eyeGENE®.
High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.
Jin Song,Nizar Smaoui,Radha Ayyagari,David Stiles,Sonia Benhamed,Ian M. MacDonald,Stephen P. Daiger,Santa J. Tumminia,Fielding Hejtmancik,Xinjing Wang +9 more
TL;DR: It is suggested that Retina-Array might be a valuable tool for the detection of disease-causing mutations and disease severity modifiers in a single experiment and may provide a powerful and feasible approach through which to study genetic heterogeneity in retinal diseases.
Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.
Jackson Gao,Leera D’Souza,Keith Wetherby,Christian Antolik,Melissa Reeves,David R. Adams,Santa J. Tumminia,Xinjing Wang +7 more
TL;DR: To study the possibility that genomic abnormalities with single or multiple exon involvement may account for a portion of the potential missing pathogenic variants (the second), retrospectively analyzed the TYR gene by long range PCR and analyzed the target 2.7 kb deletion in the OCA2 gene spanning exon 7 in OCA patients with a single pathogenic variant in the target genes.
Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.
Xinjing Wang,Wadih M. Zein,Leera D’Souza,Chimere Roberson,Keith Wetherby,Hong He,Angela Villarta,Amy Turriff,Kory R. Johnson,Yang C. Fann +9 more
TL;DR: A novel approach to enrich the target gene panel by microdroplet PCR with application of NGS in IRD clinical molecular diagnosis provides a powerful approach to exploring the etiology and pathology in patients.