Sylvie Sukno

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Claire Redin, Bénédicte Gérard, Julia Lauer et al. · Journal of Medical Genetics · 2014 · 273 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases

Caroline Schluth‐Bolard, Bruno Delobel, Damien Sanlaville et al. · European Journal of Medical Genetics · 2009 · 173 citations

Life Sciences, Genetics, Molecular Genetics +17

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

Julien Thévenon, Patrick Callier, Joris Andrieux et al. · European Journal of Human Genetics · 2012 · 106 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Allelic heterogeneity of SMARD1 at the IGHMBP2 locus

Isabelle Maystadt, Mohammed Zarhrate, P. Landrieu et al. · Human Mutation · 2004 · 52 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy

Stéphanie Bauché, Geoffroy Vellieux, Damien Sternberg et al. · Journal of Neurology · 2017 · 47 citations

Medicine, Genetics, Molecular Genetics +14