Publications by authors named "Salima El Chehadeh"

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Double nonallelic somatic activating oncogene variants in a series of mosaic vascular anomalies.
Paul Kuentz, Thomas Hubiche, Stéphanie Mallet, Maella Severino-Freire, Annabel Maruani, Salima El Chehadeh

Br J Dermatol· 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

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, Salima El Chehadeh

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, Salima El Chehadeh

Nat Genet· June 2025

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Saturation genome editing of reveals distinct dominant and recessive neurodevelopmental disorders.
Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, Elsa Leitão, Ruebena Dawes, Salima El Chehadeh

medRxiv· April 2025

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Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.
Médéric Jeanne, Nathalie Ronce, Solène Remizé, Stéphanie Arpin, Geneviève Baujat, Salima El Chehadeh

J Med Genet· March 2025

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Clinical impact of genetic testing in a large cohort of pediatric cardiomyopathies.
Flavie Ader, Neil Derridj, Anne Claire Brehin, Olivia Domanski, Jean Benoit Baudelet, Salima El Chehadeh

Int J Cardiol· January 2025

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Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene.
Maxence Mancini, Roland Chapurlat, Bertrand Isidor, Marine Desjonqueres, Guillaume Couture, Salima El Chehadeh

Calcif Tissue Int· November 2024

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Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing-A Multicenter Cohort Study.
Sarah Baer, Audrey Schalk, Marguerite Miguet, Élise Schaefer, Salima El Chehadeh

Pediatr Neurol· October 2024

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Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
Anna Gerasimenko, Cyril Mignot, Olivier Naggara, Florence Coulet, Samar Ekram, Salima El Chehadeh

Clin Genet· July 2024

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Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.
Pauline Arnaud, Zakaria Mougin, Genevieve Baujat, Valérie Drouin-Garraud, Salima El Chehadeh

J Med Genet· 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, Salima El Chehadeh

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, Salima El Chehadeh

Am J Med Genet A· 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, Salima El Chehadeh

Clin Genet· November 2023

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Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.
Nika Schuermans, Salima El Chehadeh, Dimitri Hemelsoet, Jérémie Gautheron, Marie-Christine Vantyghem

Nat Genet· November 2023

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Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France.
Allan Lançon, Amandine Beaudouin, Laetitia Lambert, Amandine Baurand, Estelle Petit, Salima El Chehadeh

Eur J Med Genet· October 2023

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Biallelic Truncating Variants Are Associated with Severe Neonatal Cardiomyopathies.
Alexandre Janin, Evan Gouy, Audrey Putoux, Thomas Perouse-de-Monclos, Philippe Chevalier, Salima El Chehadeh

Circ Genom Precis Med· June 2023

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Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2.
Gaofeng Zhu, Mihaly Badonyi, Lina Franklin, Luis Seabra, Gillian I Rice, Salima El-Chehadeh

J Clin Immunol· May 2023

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IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB-Induced Inflammation.
Ilona Gottschalk, Uwe Kölsch, Dimitrios L Wagner, Jonas Kath, Stefania Martini, Salima El Chehadeh

J Clin Immunol· February 2023

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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Elizabeth E Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H Nguyen, Salima El Chehadeh

Mol Psychiatry· February 2023

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Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders.
Estelle Colin, Yannis Duffourd, Martin Chevarin, Emilie Tisserant, Simon Verdez, Salima El Chehadeh

Front Cell Dev Biol· February 2023

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The different clinical facets of -related neurodevelopmental disorders.
Ilaria Parenti, Elsa Leitão, Alma Kuechler, Laurent Villard, Cyril Goizet, Salima El Chehadeh

Front Cell Dev Biol· December 2022

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Molecular and clinical descriptions of patients with GABA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Pierre-Yves Maillard, Sarah Baer, Élise Schaefer, Béatrice Desnous, Nathalie Villeneuve, Salima El Chehadeh

Epilepsia· October 2022

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A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Elisa Calì, Sheng-Jia Lin, Clarissa Rocca, Yavuz Sahin, Aisha Al Shamsi, Salima El Chehadeh

Genet Med· October 2022

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SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.
Salima El Chehadeh, Kyung Ah Han, Dongwook Kim, Gyubin Jang, Somayeh Bakhtiari

Nat Commun· July 2022

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