Publications by authors named "Solveig Heide"

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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, Solveig Heide

Brain· December 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, Solveig Heide

Am J Hum 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

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, Solveig Heide

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, Solveig Heide

Nat Genet· June 2025

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Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range.
Stacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, Colin A Ellis, Alicia G Harrison, Solveig Heide

Am J Hum Genet· June 2025

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De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies.
Monika Weisz-Hubshman, Lindsay C Burrage, Sharayu V Jangam, Jill A Rosenfeld, Sandra von Hardenberg, Solveig Heide

Genet Med· April 2025

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Variants in , encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range.
Stacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, Colin A Ellis, Alicia G Harrison, Solveig Heide

medRxiv· February 2025

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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, Solveig Heide

Eur J Hum Genet· September 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, Solveig Heide

Clin Genet· July 2024

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Loss-of-function variants in cause dominant anomalies of the corpus callosum with favourable cognitive prognosis.
Solveig Heide, Emanuela Argilli, Stéphanie Valence, Lucile Boutaud, Nathalie Roux

J Med Genet· February 2024

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Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Quentin Sabbagh, Sadegheh Haghshenas, Juliette Piard, Chloé Trouvé, Jeanne Amiel, Solveig Heide

Genet Med· 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

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, Solveig Heide

Hum Genet· 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

Neurol Genet· December 2023

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First reports of fetal SMARCC1 related hydrocephalus.
Nicolas Rive Le Gouard, Romain Nicolle, Mathilde Lefebvre, Antoinette Gelot, Solveig Heide

Eur J Med Genet· August 2023

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Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.
Toan Nguyen, Solveig Heide, Lucie Guilbaud, Stéphanie Valence, Saskia Vande Perre

Prenat Diagn· June 2023

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Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities.
Lucie Pierron, Sophie Tezenas du Montcel, Anna Heinzmann, Giulia Coarelli, Delphine Héron, Solveig Heide

J Med Genet· April 2023

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Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Alexander M Holtz, Rachel VanCoillie, Elizabeth A Vansickle, Deanna Alexis Carere, Kara Withrow, Solveig Heide

Genet Med· October 2022

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OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants.
Estelle Colin, Yannis Duffourd, Emilie Tisserant, Raissa Relator, Ange-Line Bruel, Solveig Heide

Front Cell Dev Biol· October 2022

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Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.
Guillaume Jouret, Solveig Heide, Arthur Sorlin, Laurence Faivre, Sandra Chantot-Bastaraud

Clin Genet· August 2022

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Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.
Roseline Vibert, Cyril Mignot, Boris Keren, Sandra Chantot-Bastaraud, Marie-France Portnoï, Solveig Heide

Clin Genet· March 2022

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GM3 synthase deficiency in non-Amish patients.
Solveig Heide, Marie-Line Jacquemont, David Cheillan, Michel Renouil, Marilyn Tallot

Genet Med· February 2022

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Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for -Related Syndrome.
Aidin Foroutan, Sadegheh Haghshenas, Pratibha Bhai, Michael A Levy, Jennifer Kerkhof, Solveig Heide

Int J Mol Sci· February 2022

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Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.
Lucie Tosca, Loïc Drévillon, Aurélie Mouka, Laure Lecerf, Audrey Briand, Solveig Heide

Mol Genet Genomic Med· November 2021

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