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  1. No Access

    Article

    VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19

    With the increasing importance of genomic data in understanding genetic diseases, there is an essential need for efficient and user-friendly tools that simplify variant analysis. Although multiple tools exist,...

    Noam Hadar, Vadim Dolgin, Katya Oustinov, Yuval Yogev, Tomer Poleg… in Human Genetics (2024)

  2. Article

    Open Access

    IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma

    Genomic sequences residing within introns of few genes have been shown to act as enhancers affecting expression of neighboring genes. We studied an autosomal recessive phenotypic continuum of microphthalmia, a...

    Ohad Wormser, Yonatan Perez, Vadim Dolgin, Bahman Kamali… in npj Genomic Medicine (2023)

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  3. No Access

    Article

    Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation

    Tricho-hepato-enteric syndrome (THES) (OMIM #222,470) is a rare autosomal recessive syndromic enteropathy whose primary manifestations are dysmorphism, intractable diarrhea, failure to thrive, hair abnormaliti...

    Eyal Kristal, Amit Nahum, Galina Ling, Arnon Broides… in Immunologic Research (2022)