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  1. Article

    Open Access

    A genome-wide DNA methylation signature for SETD1B-related syndrome

    SETD1B is a component of a histone methyltransferase complex that specifically methylates Lys-4 of histone H3 (H3K4) and is responsible for the epigenetic control of chromatin structure and gene expression. De...

    I. M. Krzyzewska, S. M. Maas, P. Henneman, K. v. d. Lip, A. Venema… in Clinical Epigenetics (2019)

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  2. Article

    Open Access

    A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis

    JI Arostegui, R Rabionet, A Remesal, A Mensa-Vilaro, S Murias… in Pediatric Rheumatology (2015)

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  3. No Access

    Article

    A genome-wide association study of anorexia nervosa

    Anorexia nervosa (AN) is a complex and heritable eating disorder characterized by dangerously low body weight. Neither candidate gene studies nor an initial genome-wide association study (GWAS) have yielded si...

    V Boraska, C S Franklin, J A B Floyd, L M Thornton, L M Huckins… in Molecular Psychiatry (2014)

  4. No Access

    Article

    Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene

    Mutations in the GJB2 gene have been identified in many patients with childhood deafness, 35delG being the most common mutation in Caucasoid populations. We have analyzed a total of 576 families/unrelated patien...

    R. Rabionet, L. Zelante, N. López-Bigas, L. D'Agruma, S. Melchionda… in Human Genetics (2000)