Publications by authors named "Odile Boute"

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Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro.
Florence Desprez, Solène Remize, Liberty François-Moutal, Dévina C Ung, Audrey Dangoumau, Odile Boute

Mol Psychiatry· November 2025

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Maternal Mosaicism Challenges in Non-Invasive Prenatal Diagnosis.
Margot Comel, Marina Lamairia, Odile Boute, Camille Cenni, Anne Bergougnoux

Prenat Diagn· October 2025

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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Odile Boute

Nat Genet· June 2025

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Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features.
Christel Thauvin-Robinet, Aurore Garde, Maud Favier, Julian Delanne, Caroline Racine, Odile Boute

Eur J Hum Genet· May 2025

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Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.
Christopher C Y Mak, Hannah Klinkhammer, Sanaa Choufani, Nikola Reko, Angela K Christman, Odile Boute

EBioMedicine· May 2025

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Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.
Charlotte Guillouet, Valeria Agostini, Geneviève Baujat, Dario Cocciadiferro, Tommaso Pippucci, Odile Boute

Am J Hum Genet· April 2025

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Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.
Maud Favier, Elise Brischoux-Boucher, Louise C Pyle, Nicolas Mottet, Marion Auber-Lenoir, Odile Boute

Prenat Diagn· December 2024

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Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.
Alexis Billes, Mathilde Pujalte, Guillaume Jedraszak, Daniel Amsallem, Elise Boudry-Labis, Odile Boute

Clin Genet· September 2024

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Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.
Christel Thauvin-Robinet, Aurore Garde, Julian Delanne, Caroline Racine, Thierry Rousseau, Odile Boute

Prenat Diagn· September 2024

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PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature.
Fiona Leduc, Thomas Smol, Benoit Catteau, Odile Boute, Florence Petit

Eur J Med Genet· June 2024

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Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Thomas Husson, François Lecoquierre, Gaël Nicolas, Anne-Claire Richard, Alexandra Afenjar, Odile Boute

Eur J Hum Genet· February 2024

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Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Quentin Sabbagh, Sadegheh Haghshenas, Juliette Piard, Chloé Trouvé, Jeanne Amiel, Odile Boute

Genet Med· January 2024

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Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.
Eyyup Uctepe, Barbara Vona, Fatma Nisa Esen, F Mujgan Sonmez, Thomas Smol, Odile Boute

Eur J Hum Genet· January 2024

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Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Laurence Faivre, Jean-Charles Crépin, Manon Réda, Sophie Nambot, Virginie Carmignac, Odile Boute

Clin Genet· November 2023

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Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Rebecca S Tooze, Kerry A Miller, Sigrid M A Swagemakers, Eduardo Calpena, Simon J McGowan, Odile Boute

Genet Med· September 2023

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Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Frédéric Tran Mau-Them, Julian Delanne, Anne-Sophie Denommé-Pichon, Hana Safraou, Ange-Line Bruel, Odile Boute

Front Genet· March 2023

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Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.
Uwe Kornak, Namrata Saha, Boris Keren, Alexander Neumann, Ana Lisa Taylor Tavares, Odile Boute

Genet Med· September 2022

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CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.
Flavien Rouxel, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Michael Levy, Odile Boute

Genet Med· May 2022

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First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
Bertrand Chesneau, Marion Aubert-Mucca, Félix Fremont, Jacmine Pechmeja, Vincent Soler, Odile Boute

Clin Genet· May 2022

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Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.
Roseline Vibert, Cyril Mignot, Boris Keren, Sandra Chantot-Bastaraud, Marie-France Portnoï, Odile Boute

Clin Genet· March 2022

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EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.
Jonathan Lévy, Bérénice Schell, Hala Nasser, Myriam Rachid, Lyse Ruaud, Odile Boute

Clin Genet· October 2021

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The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.
Leïla Ghesh, Marie Denis Musquer, Louise Devisme, Morgane Stichelbout, Lucile Boutaud, Odile Boute

Clin Genet· October 2021

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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, Odile Boute

J Invest Dermatol· May 2020

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Growth charts in Kabuki syndrome 1.
Valentin Ruault, Carole Corsini, Claire Duflos, Sandrine Akouete, Véra Georgescu, Odile Boute

Am J Med Genet A· March 2020

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Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
Pierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, Bénédicte Demeer, Judith St-Onge, Odile Boute

Nat Genet· March 2020

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