Publications by authors named "Elise Schaefer"

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Genetic testing after sudden death with negative ancillary investigations: A French prospective study with multidisciplinary collaboration.
Julien Osouf, Audrey Schalk, Elise Schaefer, Nadège Calmels, Angela Gonzalez

Forensic Sci Int Genet· February 2026

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The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.
Marion Aubert Mucca, Perrine Brunelle, Martine Doco Fenzy, Clémence Vanlerberghe, Anne Dieux, Elise Schaefer

Clin Genet· January 2026

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deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.
Marion Lesieur-Sebellin, Kristen Wigby, Elise Schaefer, Aurélie Gouronc, Nicolas Chatron

J Med Genet· December 2025

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Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.
Ariane Kröll-Hermi, Corinne Stoetzel, Christelle Etard, Levon Halabelian, Elise Schaefer

Am J Hum Genet· December 2025

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Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes.
Sophie Scheidecker, Séverine Bär, Ariane Kröll-Hermi, Clarisse Delvallée, Bruno Rinaldi, Elise Schaefer

Eur J Hum Genet· November 2025

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Ictal Asystole in a Patient With DEE due to an FGF12 Pathogenic Variant: A Reminder to Monitor Cardiac Function.
Johanne Piotrowski, Élise Schaefer, Michael Kuntz, Virginie Bois, Franz Schieffer

Clin Genet· October 2025

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'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors.
Yordi-Michaël Bouhatous, Cecilie Bredrup, Agnes Maurer, Liubinka Mirakovska, Alison Foster, Elise Schaefer

J Med Genet· 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, Elise Schaefer

medRxiv· September 2025

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Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocol.
Nhat Minh Do, Pierre Klienkoff, Anne de Saint Martin, Alexandra Jimenez-Armijo, Elise Schaefer

BMC Oral Health· 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, Elise Schaefer

Nat Genet· June 2025

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Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort.
Nancy Vegas, Marlène Rio, Pauline Adnot, Véronique Soupre, Florence Petit, Elise Schaefer

Orphanet J Rare Dis· June 2025

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Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features.
Christel Thauvin-Robinet, Aurore Garde, Maud Favier, Julian Delanne, Caroline Racine, Elise Schaefer

Eur J Hum Genet· May 2025

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Systematic analysis of SCN5A variants associated with inherited cardiac diseases.
Alexis Hermida, Guillaume Jedraszak, Flavie Ader, Isabelle Denjoy, Véronique Fressart, Elise Schaefer

Heart Rhythm· March 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, Elise Schaefer

J Med Genet· March 2025

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-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, Elise Schaefer

ArXiv· February 2025

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Real-World Safety and Effectiveness of Vosoritide in Children with Achondroplasia: French Early Access Program.
Valérie Cormier-Daire, Thomas Edouard, Bertrand Isidor, Swati Mukherjee, Jeanne M Pimenta, Elise Schaefer

Horm Res Paediatr· January 2025

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Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study.
Maëlle Charpié, Perrine Brunelle, Geneviève Baujat, Caroline Michot, Julien Van Gils, Élise Schaefer

Eur J Hum Genet· December 2024

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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, Élise Schaefer

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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Improving genetic testing pathways for transthyretin amyloidosis in France: challenges and strategies.
Bérénice Hebrard, Marie-Lise Babonneau, Philippe Charron, Emilie Consolino, Benjamin Dauriat, Elise Schaefer

Orphanet J Rare Dis· October 2024

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Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.
Hortense Thomas, Tom Alix, Émeline Renard, Mathilde Renaud, Justine Wourms, Élise Schaefer

J Med Genet· August 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, Elise Schaefer

Clin Genet· July 2024

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Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations.
Lila Krebs-Drouot, Audrey Schalk, Elise Schaefer, Christine Keyser, Angela Gonzalez

Forensic Sci Int Genet· July 2024

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Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Guillaume Jedraszak, Florence Jobic, Aline Receveur, Frédéric Bilan, Brigitte Gilbert-Dussardier, Elise Schaefer

Am J Med Genet A· 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, Elise Schaefer

Eur J Hum Genet· February 2024

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