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Production of Duchenne muscular dystrophy cellular model using CRISPR-Cas9 exon deletion strategy

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  1. Article

    Open Access

    TMEM263: a novel candidate gene implicated in human autosomal recessive severe lethal skeletal dysplasia

    Skeletal dysplasia is a common, clinically and genetically heterogeneous disorder in the human population. An increasing number of different genes are being identified causing this disorder. We used whole exom...

    Mahsa Sadat Asl Mohajeri, Atieh Eslahi, Zeinab Khazaii… in Human Genomics (2021)

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  2. Article

    Open Access

    Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

    Developmental and/or epileptic encephalopathies (DEEs) are a group of devastating genetic disorders, resulting in early-onset, therapy-resistant seizures and developmental delay. Here we report on 22 individua...

    Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi… in Acta Neuropathologica (2020)

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