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  1. Article

    Open Access

    Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

    The genetics of autosomal recessive intellectual disability (ARID) has mainly been studied in consanguineous families, however, founder populations may also be of interest to study intellectual disability (ID)...

    Irma Järvelä, Tuomo Määttä, Anushree Acharya, Juha Leppälä… in Human Genetics (2021)

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  2. Article

    Open Access

    Germline EMSY sequence alterations in hereditary breast cancer and ovarian cancer families

    BRCA1 and BRCA2 mutations explain approximately one-fifth of the inherited susceptibility in high-risk Finnish hereditary breast and ovarian cancer (HBOC) families. EMSY is located in ...

    Kirsi M. Määttä, Riikka Nurminen, Minna Kankuri-Tammilehto, Anne Kallioniemi… in BMC Cancer (2017)

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