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  1. 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)

  2. 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)

  3. 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)