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authFullName_s : Marjolaine Willems
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New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

Anaïs Begemann , Heinrich Sticht , Amber Begtrup , Antonio Vitobello , Laurence Faivre et al.
Genetics in Medicine, In press, 23, pp.543-554. ⟨10.1038/s41436-020-01011-x⟩
Article dans une revue hal-03029836v1

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

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

Victoria Parker , Kim Keppler-Noreuil , Laurence Faivre , Maxime Luu , Neal Oden et al.
Genetics in Medicine, In press, ⟨10.1038/s41436-018-0297-9⟩
Article dans une revue hal-02000984v1

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

Frederic Tran Mau-Them , Sebastien Moutton , Caroline Racine , Antonio Vitobello , Ange-Line Bruel et al.
Human Genetics, 2020, 139 (11), pp.1381-1390. ⟨10.1007/s00439-020-02178-8⟩
Article dans une revue hal-03573698v1

B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation

Kevin Yauy , Frederic Tran Mau-Them , Marjolaine Willems , Christine Coubes , Patricia Blanchet et al.
Genetics in Medicine, 2018, 20 (2), pp.269-274. ⟨10.1038/gim.2017.109⟩
Article dans une revue hal-01634463v1

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
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10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

Claude Messiaen , Caroline Racine , Ahlem Khatim , Louis Soussand , Sylvie Odent et al.
Orphanet Journal of Rare Diseases, 2021, 16 (1), ⟨10.1186/s13023-021-01957-4⟩
Article dans une revue hal-03403349v1
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LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters

Marion Imbert-Bouteille , Frédéric Tran Mau Them , Julien Thevenon , Thomas Guignard , Vincent Gatinois et al.
European Journal of Medical Genetics, 2019, 62 (3), pp.161-166. ⟨10.1016/j.ejmg.2018.07.003⟩
Article dans une revue hal-01845043v1

NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients

Michele Bertacchi , Anna Lisa Romano , Agnès Loubat , Frederic Tran Mau-Them , Marjolaine Willems et al.
EMBO Journal, 2020, 39 (13), pp.e104163. ⟨10.15252/embj.2019104163⟩
Article dans une revue hal-02890188v1

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
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PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

Katrine M Johannesen , Elena Gardella , Cathrine E Gjerulfsen , Allan Bayat , Rob P W Rouhl et al.
Neurology Genetics, 2021, 7 (6), pp.e613. ⟨10.1212/nxg.0000000000000613⟩
Article dans une revue hal-03881856v1
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Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation

Maud Jordan , Virginie Carmignac , Arthur Sorlin , Paul Kuentz , Juliette Albuisson et al.
Journal of Investigative Dermatology, 2019, ⟨10.1016/j.jid.2019.08.455⟩
Article dans une revue hal-03158801v1
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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⟩
Article dans une revue hal-03269307v1
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Autism and developmental disability caused by KCNQ3 gain‐of‐function variants

Tristan Sands , Francesco Miceli , Gaetan Lesca , Anita Beck , Lynette Sadleir et al.
Annals of Neurology, 2019, ⟨10.1002/ana.25522⟩
Article dans une revue hal-02151807v1