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authFullName_s : Salima El Chehadeh-Djebbar

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

Sophie Nambot , Julien Thévenon , Paul Kuentz , Yannis Duffourd , Emilie Tisserant et al.
Genetics in Medicine, 2018, 20 (6), pp.645-654. ⟨10.1038/gim.2017.162⟩
Article dans une revue hal-01635326v1

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Stéphanie Bauché , Seana O’regan , Yoshiteru Azuma , Fanny Laffargue , Grace Mcmacken et al.
American Journal of Human Genetics, 2016, 99 (3), pp.753-761. ⟨10.1016/j.ajhg.2016.06.033⟩
Article dans une revue hal-03993840v1

Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome

Floriane Limoge , Laurence Faivre , Thomas Gautier , Jean-Michel Petit , Elodie Gautier et al.
Human Molecular Genetics, 2015, 24 (23), pp.6603-6613. ⟨10.1093/hmg/ddv366⟩
Article dans une revue hal-01595306v1

Cohen syndrome is associated with major glycosylation defects

Laurence Duplomb , Sandrine Duvet , Damien Picot , Gaetan Jego , Salima El Chehadeh-Djebbar et al.
Human Molecular Genetics, 2014, 23 (9), pp.2391 - 2399. ⟨10.1093/hmg/ddt630⟩
Article dans une revue hal-01687667v1

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

Aurélie Bourchany , Christel Thauvin-Robinet , Daphne Lehalle , Ange-Line Bruel , Paul Masurel-Paulet et al.
European Journal of Medical Genetics, 2017, 60 (11), pp.595 - 604. ⟨10.1016/j.ejmg.2017.08.011⟩
Article dans une revue hal-01626052v1