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  1. Article

    Open Access

    Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders

    Pathogenic variants in MYH3 cause distal arthrogryposis type 2A and type 2B3 as well as contractures, pterygia and spondylocarpotarsal fusion syndromes types 1A and 1B. These disorders are ultra-rare and their na...

    Sen Zhao, Yuanqiang Zhang, Sigrun Hallgrimsdottir, Yuzhi Zuo… in npj Genomic Medicine (2022)

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    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)