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  • Renqian Du, Chuncheng Lu, +9 authors Feng Zhang
  • Biology, Medicine
  • Journal of Human Genetics
  • 2012 (First Publication: 1 August 2012)
  • Local genomic architecture, such as segmental duplications (SDs), can induce copy number variations (CNVs) hotspots in the human genome, many of which manifest as genomic disorders. SignificantExpand
  • Jiaqi Liu, N. Wu, +64 authors Baylor-Hopkins Center for Mendelian Genomics
  • Medicine
  • Genetics in Medicine
  • 2019 (First Publication: 14 January 2019)
  • PurposeTo characterize clinically measurable endophenotypes, implicating the TBX6 compound inheritance model.MethodsPatients with congenital scoliosis (CS) from China(N = 345, cohort 1), Japan (N =Expand
  • J. Liu, Y. Zhou, +26 authors N. Wu
  • Medicine, Biology
  • Human Genetics
  • 2018 (First Publication: 17 July 2018)
  • With the recent advance in genome-wide association studies (GWAS), disease-associated single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) have been extensively reported.Expand
  • Zhen Peng, Weichen Zhou, Wenqing Fu, Renqian Du, Li Jin, Feng Zhang
  • Medicine, Biology
  • Human molecular genetics
  • 2015 (First Publication: 1 March 2015)
  • Non-allelic homologous recombination (NAHR) is one of the key mechanisms of DNA rearrangement. NAHR occurring between direct homologous repeats can generate genomic copy number variation (CNV) andExpand