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  1. Sanderson, Leslie E. [Author]; Lanko, Kristina [Author]; Alsagob, Maysoon [Author]; Almass, Rawan [Author]; Al-Ahmadi, Nada [Author]; Najafi, Maryam [Author]; Antony, Dinu [Author]; Schmidts, Miriam [Author]; Barakat, Tahsin Stefan [Author]; Ham, Tjakko J. van [Author]; Kaya, Namik [Author]

    Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

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    Oxford: Oxford Univ. Press, 2021

    Published in: Brain ; 144, 3 (2021), 769–780

  2. Yousefi, Soheil; Deng, Ruizhi; Lanko, Kristina; Salsench, Eva Medico; Nikoncuk, Anita; van der Linde, Herma C.; Perenthaler, Elena; van Ham, Tjakko J.; Mulugeta, Eskeatnaf; Barakat, Tahsin Stefan

    Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance

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    Springer Science and Business Media LLC, 2021

    Published in: Genome Medicine, 13 (2021) 1

  3. Eleftheriadou, Maria; Medici‐ van den Herik, Evita; Stuurman, Kyra; van Bever, Yolande; Hellebrekers, Debby M. E. I.; van Slegtenhorst, Marjon; Ruijter, George; Barakat, Tahsin Stefan

    Isobutyryl‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report

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    Wiley, 2021

    Published in: Molecular Genetics & Genomic Medicine, 9 (2021) 2