Salima El Chehadeh-Djebbar

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test

Julien Thévenon, Yannis Duffourd, Alice Masurel‐Paulet et al. · Clinical Genetics · 2016 · 265 citations

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 et al. · Genetics in Medicine · 2017 · 193 citations · Full text

Developmental Anomaly, Rare Diseases, Mendelian Disorder +10

Cohen syndrome is associated with major glycosylation defects

Laurence Duplomb, Sandrine Duvet, Damien Picot et al. · Human Molecular Genetics · 2013 · 96 citations · Full text

Glycobiology, Molecular Biology, Pathology +24

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

Caroline Alby, Kevin Piquand, Céline Huber et al. · The American Journal of Human Genetics · 2015 · 92 citations · Full text

Molecular Diagnostic Techniques, Mendelian Disorder, Genetic Disorder +9

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

Stéphanie Bauché, S O’Regan, Yoshiteru Azuma et al. · The American Journal of Human Genetics · 2016 · 91 citations · Full text

Physiology, Episodic Apnea, Congenital Myasthenic Syndrome +1