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  1. No Access

    Article

    The infertile individual analysis based on whole-exome sequencing in chinese multi-ethnic groups

    Infertility is a common and rapidly growing health issue around the world. The genetic analysis based on the infertile population is crucial for intervention and treatment.

    Qiongzhen Zhao, Yanqi Li, Qi Liang, Jie Zhao, Kai Kang, Meiling Hou… in Genes & Genomics (2023)

  2. Article

    Open Access

    Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy

    Although recessive mutations in LAMA2 are already known to cause laminin α2-related muscular dystrophy, a rare neuromuscular disorder, large deletions or duplications within this gene are not well-characterized. ...

    Lin Ge, Aijie Liu, Kai Gao, Renqian Du, Juan Ding, Bing Mao, Ying Hua… in Scientific Reports (2018)

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  3. No Access

    Article

    Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis

    Tooth agenesis (TA), the failure of development of one or more permanent teeth, is a common craniofacial abnormality observed in different world populations. The genetic etiology of TA is heterogeneous; more t...

    Renqian Du, Nuriye Dinckan, **aofei Song, Zeynep Coban-Akdemir… in Human Genetics (2018)

  4. No Access

    Article

    The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease

    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. Accordingly, the iss...

    Jiaqi Liu, Yangzhong Zhou, Sen Liu, **aofei Song, **n-Zhuang Yang… in Human Genetics (2018)

  5. Article

    Open Access

    Evaluation of copy number variation detection for a SNP array platform

    Copy Number Variations (CNVs) are usually inferred from Single Nucleotide Polymorphism (SNP) arrays by use of some software packages based on given algorithms. However, there is no clear understanding of the p...

    **n Zhang, Renqian Du, Shilin Li, Feng Zhang, Li **, Hongyan Wang in BMC Bioinformatics (2014)

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  6. No Access

    Article

    NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy

    While pathogenic copy number variations (CNVs) in 15q11.2 were recently identified in Caucasian patients with idiopathic generalized epilepsies (IGEs), the epilepsy-associated gene(s) in this region is/are sti...

    Yuwu Jiang, Yuehua Zhang, **** Zhang, Tian Sang, Feng Zhang… in Human Genetics (2012)