Diagnosis support systems for rare diseases: a scoping review
Stanislas Lyonnet5,8,9, Sophie Saunier5,10 and Anita Burgun1,3,5,11 Abstract Introduction: Rare diseases affect approximately 350 million people worldwide Delayed diagnosis is frequent due to lack of knowledge of most clinicians and a small number of expert centers Consequently, computerized
Hmgj 21 19 coverqxd 9/10/12 7:53 PM Page 1 HUMAN MOLECULAR
Stanislas Lyonnet, Paris, France Michael O’Donovan, Cardiff, UK Harry Orr, Minneapolis, MN, USA Oxford Journals, a division of Oxford University Press, is committed to
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Thierry Frebourgnominated by Stanislas Lyonnet and Arnold Munnich I am a Professor of Genetics at the University of Rouen I head the Department of Medical Genetics at the Rouen University including the clinical unit and DNA laboratory My research field includes genetic predisposition to
AcomprehensivemolecularstudyonCoin-SirisandNicolaides
Kilic10, Pelin O¨zlem Simsek-Kiper10, Vanesa Lo´pez-Gonza´lez24, Alma Kuechler1, Stanislas Lyonnet 27 ,FrancescaMari 20,37 ,AnnabellaMarozza 37 ,Miche`leMathieuDramard 28 ,BarbaraMikat 1 , Gilles Morin 28 , Fanny Morice-Picard 29 , Ferda O¨zkinay 17 , Anita Rauch 30 , Alessandra Renieri 20,37 ,
De novo mutation screening in childhood-onset mutations in
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene Jean Chemin,1,2,* Karine Siquier-Pernet,3,4,* Michae¨l Nicouleau,3,4 Giulia Barcia,3,4
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WDR81 mutations cause extreme microcephaly fibroblasts and
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells Mara Cavallin,1,2,3,* Maria A Rujano,2,4,* Nathalie Bednarek,5
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