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authFullName_s : Marie-Line Jacquemont

The landscape of epilepsy-related GATOR1 variants

Sara Baldassari , Fabienne Picard , Nienke E. Verbeek , Marjan van Kempen , Eva Brilstra et al.
Genetics in Medicine, 2019, 21 (2), pp.398-408. ⟨10.1038/s41436-018-0060-2⟩
Article dans une revue hal-02063270v1

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

Paul Kuentz , Judith Saint-Onge , Yannis Duffourd , Jean-Benoît Courcet , Virginie Carmignac et al.
Genetics in Medicine, 2017, 19 (9), pp.989-997. ⟨10.1038/gim.2016.220⟩
Article dans une revue hal-01560452v1

Correction: The landscape of epilepsy-related GATOR1 variants

Sara Baldassari , Fabienne Picard , Nienke E. Verbeek , Marjan van Kempen , Eva Brilstra et al.
Genetics in Medicine, 2019, 21 (8), pp.1896-1896. ⟨10.1038/s41436-018-0325-9⟩
Article dans une revue hal-02066352v1
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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⟩
Article dans une revue hal-01919142v1
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Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

Natacha Lehman , Anne-Claire Mazery , Antoine Visier , Clarisse Baumann , Dominique Lachesnais et al.
Clinical Genetics, 2017, 92 (3), pp.298-305. ⟨10.1111/cge.13010⟩
Article dans une revue hal-01560204v1
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Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

Virginie Carmignac , Cyril Mignot , Emmanuelle Blanchard , Paul Kuentz , Marie-Hélène Aubriot-Lorton et al.
Genetics in Medicine, 2021, 23 (8), pp.1484-1491. ⟨10.1038/s41436-021-01161-6⟩
Article dans une revue hal-03602359v1

Clinical and molecular spectrum of renal malformations in Kabuki syndrome

Jean-Benoît Courcet , Laurence Faivre , Caroline Michot , Antoine Burguet , Stéphanie Perez-Martin et al.
The Journal of Pediatrics, 2013, 163 (3), pp.742--746. ⟨10.1016/j.jpeds.2013.02.032⟩
Article dans une revue hal-01064380v1

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome

Jean-Luc Alessandri , Christopher T Gordon , Marie-Line Jacquemont , Nicolas Gruchy , Norbert Ajeawung et al.
European Journal of Human Genetics, 2018, 26 (3), pp.340-349. ⟨10.1038/s41431-017-0087-x⟩
Article dans une revue hal-02392961v1