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Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

Marguerite Miguet , Laurence Faivre , Jeanne Amiel , Mathilde Nizon , Renaud Touraine et al.
Journal of Medical Genetics, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩
Article dans une revue hal-02064139v1

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Christel Depienne , Caroline Nava , Boris Keren , Solveig Heide , Agnès Rastetter et al.
Human Genetics, 2017, 136 (4), pp.463-479. ⟨10.1007/s00439-017-1772-0⟩
Article dans une revue hal-01502135v1
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In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Virginie Carmignac , Julie Thevenon , Lesley Ades , Bert Callewaert , Sophie Julia et al.
American Journal of Human Genetics, 2012, 91 (5), pp.950 - 957. ⟨10.1016/j.ajhg.2012.10.002⟩
Article dans une revue hal-01670135v1

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

Stephanie Valence , Emmanuelle Cochet , Christelle Rougeot , Catherine Garel , Sandra Chantot-Bastaraud et al.
Genetics in Medicine, 2019, 21 (3), pp.553-563. ⟨10.1038/s41436-018-0089-2⟩
Article dans une revue hal-01932802v1
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Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant

Chloé Angelini , Julien van Gils , Antoine Bigourdan , Pierre-Simon Jouk , Didier Lacombe et al.
European Journal of Medical Genetics, In press, ⟨10.1016/j.ejmg.2018.08.011⟩
Article dans une revue hal-01952641v1
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Delineating FOXG1 syndrome

Nancy Vegas , Mara Cavallin , Camille Maillard , Nathalie Boddaert , Joseph Toulouse et al.
Neurology Genetics, 2018, 4 (6), pp.e281. ⟨10.1212/NXG.0000000000000281⟩
Article dans une revue hal-01920261v1
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Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome

Pauline Arnaud , Nadine Hanna , Mélodie Aubart , Bruno Leheup , Sophie Dupuis-Girod et al.
Journal of Medical Genetics, 2017, 54 (2), pp.100 - 103. ⟨10.1136/jmedgenet-2016-103996⟩
Article dans une revue hal-01670201v1

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

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

Camille Leroy , Émilie Landais , Sylvain Briault , Albert David , Olivier Tassy et al.
European Journal of Human Genetics, 2012, 21 (6), pp.602 - 612. ⟨10.1038/ejhg.2012.230⟩
Article dans une revue hal-01707770v1
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Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: A 7-year national survey

Mathilde Lefebvre , Damien Sanlaville , Nathalie Marle , Christel Thauvin-Robinet , Élodie Gautier et al.
Clinical Genetics, 2016, 89 (5), pp.630-635. ⟨10.1111/cge.12696⟩
Article dans une revue hal-01237103v1

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients

Salima El Chehadeh , Laurence Faivre , Anne-Laure Mosca-Boidron , Valérie Malan , Jeanne Amiel et al.
American Journal of Medical Genetics Part A, 2016, 170 (1), pp.116-129. ⟨10.1002/ajmg.a.37384⟩
Article dans une revue istex hal-01237099v1