Ataxia-pancytopenia syndrome with SAMD9L mutations

по Gorcenco, Sorina, Komulainen-Ebrahim, Jonna, Nordborg, Karin, Suo-Palosaari, Maria, Andréasson, Sten, Krüger, Johanna, Nilsson, Christer, Kjellström, Ulrika, Rahikkala, Elisa, Turkiewicz, Dominik, Karlberg, Mikael, Nilsson, Lars, Cammenga, Jörg, Tedgård, Ulf, Davidsson, Josef, Uusimaa, Johanna, Puschmann, Andreas
Опубликовано в: Neurol Genet (2017)

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

по Tesi, Bianca, Davidsson, Josef, Voss, Matthias, Rahikkala, Elisa, Holmes, Tim D., Chiang, Samuel C. C., Komulainen-Ebrahim, Jonna, Gorcenco, Sorina, Rundberg Nilsson, Alexandra, Ripperger, Tim, Kokkonen, Hannaleena, Bryder, David, Fioretos, Thoas, Henter, Jan-Inge, Möttönen, Merja, Niinimäki, Riitta, Nilsson, Lars, Pronk, Cornelis Jan, Puschmann, Andreas, Qian, Hong, Uusimaa, Johanna, Moilanen, Jukka, Tedgård, Ulf, Cammenga, Jörg, Bryceson, Yenan T.
Опубликовано в: Blood (2017)

Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland

по Kurki, Mitja I., Saarentaus, Elmo, Pietiläinen, Olli, Gormley, Padhraig, Lal, Dennis, Kerminen, Sini, Torniainen-Holm, Minna, Hämäläinen, Eija, Rahikkala, Elisa, Keski-Filppula, Riikka, Rauhala, Merja, Korpi-Heikkilä, Satu, Komulainen–Ebrahim, Jonna, Helander, Heli, Vieira, Päivi, Männikkö, Minna, Peltonen, Markku, Havulinna, Aki S., Salomaa, Veikko, Pirinen, Matti, Suvisaari, Jaana, Moilanen, Jukka S., Körkkö, Jarmo, Kuismin, Outi, Daly, Mark J., Palotie, Aarno
Опубликовано в: Nat Commun (2019)