Publications by authors named "Solene Conrad"

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A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.
Delphine Héron, Anna Gerasimenko, Lisa Frugère, Jade Ducourneau, Capucine Rossi, Solène Conrad

Brain· December 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, Solène Conrad

Nat Commun· November 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, Solène Conrad

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, Solène Conrad

Nat Genet· June 2025

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RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.
Mariagrazia Talarico, Julitta de Bellescize, Matthias De Wachter, Xavier Le Guillou, Guylène Le Meur, Solène Conrad

Genet Med· April 2025

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Multiple congenital anomalies in two fetuses with glutathione-synthetase deficit (GSS).
Jeanne Jury, Jean-François Benoist, Madeleine Joubert, Chloé Quelin, Thomas Besnard, Solène Conrad

Clin Genet· December 2024

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Classification of germline non-truncating variants: a new approach to interpretation.
Henri Margot, Natalie Jones, Thibaut Matis, Dominique Bonneau, Tiffany Busa, Solene Conrad

J Med Genet· November 2024

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Expanding the Spectrum of Congenital Myopathy Linked to Variants in the Gene: A Clinical Report.
Pierre-Louis Lanvin, Dong Li, Solène Conrad, Armelle Magot, Xavier Micaelli

Neurol Clin Pract· June 2024

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Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
Josephina A N Meester, Anne Hebert, Maaike Bastiaansen, Laura Rabaut, Jarl Bastianen, Solène Conrad

NPJ Genom Med· March 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, , Solène Conrad

Mol Genet Genomic Med· January 2024

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C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.
Friedrich G Kapp, Stefanie Kretschmer, Cora C A Beckmann, Lena Wäsch, Anne Molitor, Solène Conrad

Clin Immunol· November 2023

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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
David Picketts, Ghayda Mirzaa, Keqin Yan, Raissa Relator, Sara Timpano, Solène Conrad

Res Sq· September 2023

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Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Bertrand Isidor, Frédéric Ebstein, Anna Hurst, Marie Vincent, Ingrid Bader, Solène Conrad

Genet Med· January 2022

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Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
Quentin Thomas, Thierry Gautier, Dana Marafi, Thomas Besnard, Marjolaine Willems, Solène Conrad

Genet Med· October 2021

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Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
Xenia Latypova, Marie Vincent, Alice Mollé, Oluwadamilare A Adebambo, Cynthia Fourgeux, Solène Conrad

Am J Hum Genet· May 2021

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Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.
Henri Margot, Guilaine Boursier, Claire Duflos, Elodie Sanchez, Jeanne Amiel, Solène Conrad

Genet Med· January 2020

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Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Thomas Besnard, Natacha Sloboda, Alice Goldenberg, Sébastien Küry, Benjamin Cogné, Solène Conrad

Genet Med· September 2019

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Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis.
Anne Molitor, Tony Prud'homme, Zhichao Miao, Solène Conrad, Agnès Bloch-Zupan

J Hum Genet· July 2019

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11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.
Solène Conrad, Florence Demurger, Kamran Moradkhani, Olivier Pichon, Cédric Le Caignec

Am J Med Genet A· June 2019

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