@ARTICLE{
author={Clewing Marietta J,Fryssira Helen,Goodman David,Smithson Sarah F,Sloan Emily A,Lou Shu,Huang Yan,Chow Kunho,Luecke Thomas,Alpay Harika,Andre Jean-Luc,Asakura Yumi,Biebuyck-Gouge Nathalie,Bogdanovic Radovan M,Bonneau Dominique,Cancrini Caterina,Cochat Pierre,Cockfield Sandra,Collard Laure,Cordeiro Isabel,Cormier-Daire Valerie,Cransberg Karlien,Cutka Karel,Deschenes Georges,Ehrich Jochen HH,Frund S,Georgaki Helen,Guillen-Navarro Encarna,Hinkelmann Barbara,Kanariou Maria,Kasap Belde,Kilic-Sebnem Sara,Lama Guiliana,Lamfers Petra,Loirat Chantal,Majore Silvia,Milford David V,Morin Denis,Ozdemir Nihal,Pontz Bertram F,Proesmans Willem,Psoni Stavroula,Reichenbach Herbert,Reif Silke,Rusu Cristina,Saraiva Jorge M,Sakallioglu Onur,Schmidt Beate,Shoemaker Lawrence,Sigaudy Sabine,Smith Graham C,Sotsiou Flora,Stajic Natasa,Stein Anja,Stray-Pedersen Asbjorg,Taha Doris,Taque Sophie,Tizard Jane,Tsimaratos Michel,Wong Newton ACS,Boerkoel Cornelius F},
year={2007},
title={Schimke immunoosseous dysplasia: Suggestions of genetic diversity},
journal={HUMAN MUTATION},
volume={28},
number={3},
pages={273-283},
document_type={Article},
} 

@ARTICLE{
author={Boerkoel Cornelius F,Takashima H,John J,Yan J,Stankiewicz P,Rosenbarker L,Andre Jean-Luc,Bogdanovic Radovan M,Burguet A,Cockfield Sandra,Cordeiro Isabel,Frund S,Illies F,Joseph MW,Kaitila I,Lama Guiliana,Loirat Chantal,McLeod DR,Milford David V,Petty EM,Rodrigo F,Saraiva Jorge M,Schmidt Beate,Smith Graham C,Spranger J,Stein Anja,Thiele H,Tizard Jane,Weksberg R,Lupski JR,Stockton DW},
year={2002},
title={Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia},
journal={NATURE GENETICS},
volume={30},
number={2},
pages={215-220},
document_type={Article},
}