Jun Liao

Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus.

R. Kornreich, A. Masri, A. Haghighi, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Follow-up value of serum AFP and aminotransferases in chronic hepatitis B progression

Yuexinzi Jin, Shichang Zhang, Long-feng Jiang, 2023, Frontiers in Cellular and Infection Microbiology.

Development and clinical application of an integrative genomic approach to personalized cancer therapy

Benjamin S. Glicksberg, Gintaras Deikus, Imane Bourzgui, 2016, Genome Medicine.

Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project.

Ulrich Broeckel, Victoria M Pratt, Amy Turner, 2016, The Journal of molecular diagnostics : JMD.

ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories

Jörg Hakenberg, Wei-Yi Cheng, J. Hakenberg, 2015, Genome Medicine.

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

Magalie S Leduc, J. Rosenfeld, R. Schiffmann, 2016, PLoS genetics.

Personalized ovarian cancer disease surveillance and detection of candidate therapeutic drug target in circulating tumor DNA.

H. Shah, E. Schadt, M. Chee, 2014, Neoplasia.

ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories

J. Hakenberg, Wei-Yi Cheng, Rong Chen, 2015, Genome Medicine.