Publications by authors named "Perrine Charles"

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Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Jiawan Sun, Charles Schwartz, Perrine Charles

Cell· December 2025

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Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia.
Brandon Bresack, Laura Renée Kohl, Alexandra Afenjar, Frédérique Audic, Lydie Burglen, Perrine Charles

Am J Hum Genet· December 2025

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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen, Mareike Lohse, Perrine Charles

Nat Genet· November 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, Perrine Charles

Genome Med· October 2025

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HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.
Clara Houdayer, A Marie Phillips, Marie Chabbert, Jennifer Bourreau, Reza Maroofian, Perrine Charles

Ann Neurol· 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, Perrine Charles

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, Perrine Charles, Charles Coutton

Nat Genet· June 2025

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GABRA2-related encephalopathy: Identification of two phenotypes with distinctive electroclinical features.
Marie Adamo-Croux, Chloé Angelini, Jérôme Aupy, Laurent Villard, Nathalie Villeneuve, Perrine Charles

Epilepsia· June 2025

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Brain malformations and seizures by impaired chaperonin function of TRiC.
Florian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan, Lena Franken, Kamil Zajt, Perrine Charles

Science· November 2024

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Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).
Eléonore Viora-Dupont, Françoise Robert, Aline Chassagne, Aurore Pélissier, Stéphanie Staraci, Perrine Charles

Eur J Hum Genet· September 2024

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Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Deepro Banerjee, Charles Schwartz, Perrine Charles

medRxiv· August 2024

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CAG repeat mosaicism is gene specific in spinocerebellar ataxias.
Radhia Kacher, François-Xavier Lejeune, Isabelle David, Susana Boluda, Giulia Coarelli, Perrine Charles

Am J Hum Genet· May 2024

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Mono and biallelic variants in cause severe neurodevelopmental disorders.
Clara Houdayer, A Marie Phillips, Marie Chabbert, Jennifer Bourreau, Reza Maroofian, Perrine Charles

medRxiv· March 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, Perrine Charles

Eur J Hum Genet· February 2024

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Growth charts in DYRK1A syndrome.
Pierre-Louis Lanvin, Thomas Goronflot, Bertrand Isidor, Mathilde Nizon, Benjamin Durand, Perrine Charles

Am J Med Genet A· January 2024

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Further characterisation of -related disorders in females due to inherited or de novo variants.
Mathilde Gras, Solveig Heide, Boris Keren, Stéphanie Valence, Catherine Garel, Perrine Charles

J Med Genet· January 2024

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Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Ariane Schmetz, Hermann-Josef Lüdecke, Harald Surowy, Sugirtahn Sivalingam, Ange-Line Bruel, Perrine Charles

Hum Genet· January 2024

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Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Jean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Perrine Charles

EBioMedicine· 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, , Perrine Charles

Mol Genet Genomic Med· January 2024

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Causes Mild Intellectual Disability Followed by Late-Onset Ataxia.
Solveig Heide, Claire-Sophie Davoine, Paulina Cunha, Clarisse Scherer-Gagou, Boris Keren, Perrine Charles

Neurol Genet· December 2023

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A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations.
Mounir Serag, Morgane Plutino, Perrine Charles, Jean-Philippe Azulay, Annabelle Chaussenot

Genes (Basel)· November 2023

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Individual perception of environmental factors that influence lower limbs spasticity in inherited spastic paraparesis.
Pauline Lallemant-Dudek, Livia Parodi, Giulia Coarelli, Anna Heinzmann, Perrine Charles

Ann Phys Rehabil Med· September 2023

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A new neurodevelopmental disorder linked to heterozygous variants in UNC79.
Allan Bayat, Zhenjiang Liu, Sheng Luo, Christina D Fenger, Anne F Højte, Charles Perrine

Genet Med· September 2023

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Huntington's Disease with Small CAG Repeat Expansions.
Anna Heinzmann, Sabrina Sayah, François-Xavier Lejeune, Valérie Hahn, Marc Teichmann, Perrine Charles

Mov Disord· July 2023

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Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Paulina Cunha, Emilien Petit, Marie Coutelier, Giulia Coarelli, Caterina Mariotti, Perrine Charles

Am J Hum Genet· July 2023

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