Publications by authors named "Bertrand Isidor"

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The phenotypic presentation of adult individuals with -related neurodevelopmental disorders.
Katrine M Johannesen, Jimmi Nielsen, Anne Sabers, Bertrand Isidor, Anja A Kattentidt-Mouravieva, Dominik Zieglgänsberger, Alexis R Heidlebaugh, Kathryn F Oetjens, Anna Abuli Vidal, Jakob Christensen

Front Neurosci· August 2023

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De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.
Samuel M Bradbrook, Gail Graham, Melissa T Carter, Maria Kibaek, Christina Fagerberg, Bertrand Isidor, Federica Isidori

Am J Med Genet A· January 2026

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Further phenotypical delineation of DLG3-related neurodevelopmental disorders.
Marlène Malbos, Thierry Gautier, Amelle Shillington, Estelle Colin, Xavier Le Guillou, Bertrand Isidor

Eur J Hum Genet· December 2025

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DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE CAUSE A NEURODEVELOPMENTAL DISORDER.
Wallid Deb, Thomas Besnard, Florence Desprez, Benjamin Cogné, Laura Do Souto Ferreira, Bertrand Isidor

medRxiv· December 2025

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AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions.
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent-Delorme

Am J Med Genet A· November 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, Bertrand Isidor

J Med Genet· November 2025

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Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.
Amber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, Jan Prchal, Darina Prchalova, Bertrand Isidor

Genet Med· November 2025

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Resolving structural variations missed by short-read sequencing uncovers their pathogenicity.
Caroline Schluth-Bolard, Laïla El Khattabi, Pierre-Antoine Rollat-Farnier, Nicolas Chatron, Marion Beaumont, Bertrand Isidor

J Med Genet· November 2025

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Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development.
Xiaoxia Peng, Xiangbin Jia, Hanying Wang, Jingjing Chen, Xiaolei Zhang, Bertrand Isidor

J Clin Invest· November 2025

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Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.
Johnny Bou-Rouphael, Auriane Cospain, Thomas Courtin, Boris Keren, Corentine Marie, Bertrand Isidor

Am J Hum Genet· November 2025

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Bertrand Isidor

Am J Hum Genet· November 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, Bertrand Isidor

Nat Genet· November 2025

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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Ghayda M Mirzaa, Keqin Yan, Raissa Relator, Mathieu Levesque, Pranisha Jayasinghe, Bertrand Isidor

Nat Commun· November 2025

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Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Sébastien Küry, Janelle E Stanton, Geeske M van Woerden, Amélie Bosc-Rosati, Tzung-Chien Hsieh, Bertrand Isidor

Nat Commun· November 2025

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Heterozygous alterations of at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder.
Jeanne Jury, Thomas Besnard, Wallid Deb, Annick Toutain, Paul Gueguen, Bertrand Isidor

J Med Genet· 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, Bertrand Isidor

Genome Med· October 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, Bertrand Isidor

medRxiv· September 2025

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KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.
Amber S E van Oirsouw, Michael A Hadders, Martijn Koetsier, Edith D J Peters, Nurit Assia Batzir, Bertrand Isidor

Hum Mol Genet· August 2025

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Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.
Camille Engel, Michaela Rendek, Jessica Assoumani, Emanuela Argilli, Francesca Ariani, Bertrand Isidor

Eur J Hum Genet· August 2025

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Phenotypic Spectrum in Individuals With Pathogenic Loss- and Gain-of-Function Variants.
Alessandra Rossi, Susan X N Lin, Nathan L Absalom, Sebastian Ortiz-De la Rosa, Vivian W Y Liao, Bertrand Isidor

Neurology· July 2025

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Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia.
Harsha Murthy, Ny Hoang, Jamie C Stark, Sunny Cui, Emanuela Pannia, Bertrand Isidor

Brain· July 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, Bertrand Isidor

Nat Genet· June 2025

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Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug-responsive epilepsy with favorable cognitive outcome.
Clément Pierret, Florence Riccardi, Julien Neveu, Marie Alesandrini, Cécilia Altuzarra, Bertrand Isidor

Epilepsia· June 2025

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Comparison of two genetic strategies for diagnostic work-up of hypertrophic cardiomyopathy: impact on the diagnosis of Fabry disease or transthyretin amyloidosis.
Aurélien Palmyre, Fairouz Koraichi, Flavie Ader, Erwan Donal, Céline Bordet, Bertrand Isidor

Orphanet J Rare Dis· June 2025

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Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.
Stephanie Efthymiou, Cailyn P Leo, Chenghong Deng, Sheng-Jia Lin, Reza Maroofian, Bertrand Isidor

Am 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, Bertrand Isidor

EBioMedicine· May 2025

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