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Droplet Digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia.

Lucie Orhant , Olivia Anselem , Mélanie Fradin , Pierre Hadrien Becker , Caroline Beugnet et al.
Prenatal Diagnosis, 2016, 36 (5), pp.397-406. ⟨10.1002/pd.4790⟩
Journal articles hal-01272602v1

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⟩
Journal articles hal-02064139v1

CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes

Ayman El-Seedy , Emmanuelle Girodon , Caroline Norez , Julie Pajaud , Marie-Claude Pasquet et al.
Human Mutation, 2012, 33 (11), pp.1557-1565. ⟨10.1002/humu.22129⟩
Journal articles istex hal-02446189v1
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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⟩
Journal articles hal-01920261v1
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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Cyril Mignot , Aoife Mcmahon , Claire Bar , Philippe Campeau , David Davidson et al.
Genetics in Medicine, 2019, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Journal articles hal-01919142v1
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p.Ser1235Arg should no longer be considered as a Cystic Fibrosis mutation: results from a large collaborative study

Celine Rene , Damien Paulet , Emmanuelle Girodon , Catherine Costa , Guy Lalau et al.
European Journal of Human Genetics, 2010, ⟨10.1038/ejhg.2010.137⟩
Journal articles hal-00567037v1

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⟩
Journal articles istex hal-01237099v1
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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

Jeremie Courraud , Eric Chater-Diehl , Benjamin Durand , Marie Vincent , Maria del Mar Muniz Moreno et al.
Genetics in Medicine, 2021, 23 (11), pp.2150-2159. ⟨10.1038/s41436-021-01263-1⟩
Journal articles hal-03269307v1