Jinli Bai

Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing

Yanyan Cao, Yu-jin Qu, Fang Song et al. · Molecular Genetics and Metabolism · 2014 · 26 citations

Urology, Molecular Diagnostic Techniques, Ion Torrent Pgm +8

Compound heterozygous mutation in two unrelated cases of Chinese spinal muscular atrophy patients.

Yu-jin Qu, Fang Song, Yanling Yang et al. · PubMed · 2011 · 17 citations

Subtle Mutation Detection of <i>SMN1</i> Gene in Chinese Spinal Muscular Atrophy Patients: Implication of Molecular Diagnostic Procedure for <i>SMN1</i> Gene Mutations

Jinli Bai, Yu-jin Qu, Cao Yanyan et al. · Genetic Testing and Molecular Biomarkers · 2014 · 17 citations

Molecular and clinical characterization of Angelman syndrome in Chinese patients

Jinli Bai, Yu-jin Qu, Yu-wei Jin et al. · Clinical Genetics · 2013 · 12 citations

Mendelian Disorder, Genetic Disorder, Angelman Syndrome +8