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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Chiara Olcese , Mitali Patel , Amelia Shoemark , Santeri Kiviluoto , Marie Legendre et al.
Nature Communications, 2017, 8 (1), pp.14279. ⟨10.1038/ncomms14279⟩
Article dans une revue hal-01560951v1

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

T. Smol , F. Petit , A. Piton , B. Keren , D. Sanlaville et al.
neurogenetics, 2018, 19 (2), pp.93-103. ⟨10.1007/s10048-018-0541-0⟩
Article dans une revue hal-02393664v1

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

Paul Kuentz , Judith Saint-Onge , Yannis Duffourd , Jean-Benoît Courcet , Virginie Carmignac et al.
Genetics in Medicine, 2017, 19 (9), pp.989-997. ⟨10.1038/gim.2016.220⟩
Article dans une revue hal-01560452v1

Copy number variations in DCC/ 18q and ERBB2/ 17q are associated with disease-free survival in microsatellite stable colon cancer

David Sefrioui , Thomas Vermeulin , France Blanchard , Caroline Chapusot , Ludivine Beaussire et al.
International Journal of Cancer, 2017, 140 (7), pp.1653-1661. ⟨10.1002/ijc.30584⟩
Article dans une revue hal-02353187v1
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A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.

Anne-Laure Mosca-Boidron , Lucie Gueneau , Guillaume Huguet , Alice Goldenberg , Céline Henry et al.
European Journal of Human Genetics, 2016, 24 (6), pp.838-43. ⟨10.1038/ejhg.2015.211⟩
Article dans une revue pasteur-01342825v1

Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases

S. Baer , A. Afenjar , T. Smol , A. Piton , B. Gérard et al.
Clinical Genetics, 2018, 94 (1), pp.141-152. ⟨10.1111/cge.13254⟩
Article dans une revue hal-02393652v1

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.

Gaël Nicolas , Cyril Pottier , Camille Charbonnier , Lucie Guyant-Maréchal , Isabelle Le Ber et al.
Brain - A Journal of Neurology , 2013, 136 (Pt 11), pp.3395-407. ⟨10.1093/brain/awt255⟩
Article dans une revue hal-01133847v1

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

Sophie Nambot , Alice Masurel , Salima El Chehadeh , Anne-Laure Mosca-Boidron , Christel Thauvin-Robinet et al.
European Journal of Human Genetics, 2016, 24 (6), pp.830 - 837. ⟨10.1038/ejhg.2015.202⟩
Article dans une revue hal-01400905v1