Publications by authors named "Stanislas Lyonnet"

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Pulmonary hypertension in patients with Noonan syndrome.
Julien Grynblat, Mathieu Farges, Pascal Magro, Laurent Savale, Maria-Rosa Ghigna, Stanislas Lyonnet

Eur Respir J· December 2025

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Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with point variants.
Laurence Pacot, Marinus Blok, Dominique Vidaud, Laura Fertitta, Ingrid Laurendeau, Stanislas Lyonnet

J Med Genet· November 2025

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Evaluation of a New Inclusive Next-Generation Synthetic Face Tool for Dysmorphology.
Ludovic Benichou, Luan Breton, Nicolas Garcelon, Benjamin Benichou, Olivier Lienhard, Stanislas Lyonnet

Am J Med Genet A· November 2025

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Criss cross heart: an outflow tract defect?
Ségolène Bernheim, Adrien Borgel, Véronique Pingault, Stanislas Lyonnet, Damien Bonnet

Orphanet J Rare Dis· November 2025

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Expanding PIGM-related disorders to coding mutations.
Romain Nicolle, Laura Russell, Véronique Abadie, Patrick Nitschke, Christine Bole, Stanislas Lyonnet

J Eur Acad Dermatol Venereol· October 2025

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Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.
Salima El Chehadeh, Solveig Heide, Chloé Quélin, Marlène Rio, Henri Margot, Stanislas Lyonnet

Genome Med· October 2025

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Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenesis: HYPOTYGEN Translational Cohort Study.
Athanasia Stoupa, Dulanjalee Kariyawasam, Fabienne Jabot-Hanin, Adrien Nguyen-Quoc, Sylvain Hanein, Stanislas Lyonnet

J Clin Endocrinol Metab· September 2025

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Systematic analysis of snRNA genes reveals frequent variants in dominant and recessive developmental and epileptic encephalopathies.
Elsa Leitão, Amandine Santini, Benjamin Cogne, Myriam Essid, Maria Athanasiadou, Stanislas Lyonnet

medRxiv· September 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, Stanislas Lyonnet

Nat Genet· June 2025

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Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.
Quentin Hennocq, Olivier Lienhard, Dipesh Rao, Jeanne Amiel, Ludovic Benichou, Stanislas Lyonnet

Clin Genet· May 2025

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Incidental finding of a pathogenic mosaicism in the NF1 gene detected by near infrared fundus imaging - a case report.
Aliénor Vienne-Jumeau, Julien Tilleul, Viviane Tilleul-Hatwell, Stanislas Lyonnet, Matthieu P Robert

Ophthalmic Genet· April 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, Stanislas Lyonnet

Am J Hum Genet· April 2025

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COG6-related prenatal phenotype (CDG2L): Clinico-pathological report and review of the literature.
Sarah Guterman, Agnese Feresin, Lucile Boutaud, Clémence Jacquin, Stanislas Lyonnet

Mol Genet Genomic Med· April 2025

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HDR syndrome: Large cohort and systematic review.
Nicolas Rive Le Gouard, Valentin Lafond-Rive, Laurence Jonard, Natalie Loundon, Sophie Achard, Stanislas Lyonnet

Clin Genet· November 2024

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AI-based diagnosis and phenotype - Genotype correlations in syndromic craniosynostoses.
Quentin Hennocq, Giovanna Paternoster, Corinne Collet, Jeanne Amiel, Thomas Bongibault, Stanislas Lyonnet

J Craniomaxillofac Surg· October 2024

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Artificial intelligence-based diagnosis in fetal pathology using external ear shapes.
Quentin Hennocq, Nicolas Garcelon, Thomas Bongibault, Thomas Bouygues, Sandrine Marlin, Stanislas Lyonnet

Prenat Diagn· September 2024

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Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.
Sadegheh Haghshenas, Karim Karimi, Roger E Stevenson, Michael A Levy, Raissa Relator, Stanislas Lyonnet

Am J Hum Genet· August 2024

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Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies.
Carole Faviez, Xiaoyi Chen, Nicolas Garcelon, Mohamad Zaidan, Katy Billot, Stanislas Lyonnet

BMC Med Inform Decis Mak· May 2024

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Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.
Laurens Hannes, Marta Atzori, Alice Goldenberg, Jesús Argente, Tania Attie-Bitach, Stanislas Lyonnet

Genet Med· April 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, Stanislas Lyonnet

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, Stanislas Lyonnet

Genet Med· January 2024

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Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.
Quentin Hennocq, Marjolaine Willems, Jeanne Amiel, Stéphanie Arpin, Tania Attie-Bitach, Stanislas Lyonnet

Sci Rep· January 2024

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Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, Nathalie Ruiz, , Stanislas Lyonnet

Mol Genet Genomic Med· January 2024

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Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Eden Engal, Kaisa Teele Oja, Reza Maroofian, Ophir Geminder, Thuy-Linh Le, Stanislas Lyonnet

Am J Hum Genet· December 2023

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AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.
Quentin Hennocq, Thomas Bongibault, Sandrine Marlin, Jeanne Amiel, Tania Attie-Bitach, Stanislas Lyonnet

Front Pediatr· August 2023

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