Publications by authors named "Busa Tiffany"

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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, Tiffany Busa

medRxiv· December 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, Tiffany Busa

Genome Med· October 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, Tiffany Busa

Nat Genet· June 2025

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Domain specific phenotypic expansion associated with variants in .
Nikhita Gogate, Angad Jolly, Jill A Rosenfeld, Paulina Bahena-Carbajal, Jonathan A Bernstein, Tiffany Busa

medRxiv· June 2025

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Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.
Charlotte Guillouet, Valeria Agostini, Geneviève Baujat, Dario Cocciadiferro, Tommaso Pippucci, Tiffany Busa

Am J Hum Genet· 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, Tiffany Busa

J Med Genet· March 2025

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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

J Med Genet· November 2024

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The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Niels Vos, Sadegheh Haghshenas, Liselot van der Laan, Perle K M Russel, Kathleen Rooney, Tiffany Busa

Hum Genet· June 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, Busa Tiffany

Am J Med Genet A· April 2024

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Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.
Lindsay R Freud, Stephanie Galloway, T Blaine Crowley, Julie Moldenhauer, Ann Swillen, Tiffany Busa, Tiffany Lee

Am J Obstet Gynecol· March 2024

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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Dong Li, Qin Wang, Allan Bayat, Mark R Battig, Yijing Zhou, Tiffany Busa

J Clin Invest· January 2024

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YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Anne-Sophie Denommé-Pichon, Stephan C Collins, Ange-Line Bruel, Anna Mikhaleva, Christel Wagner, Tiffany Busa

Genet Med· July 2023

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Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.
Yingjie Zhao, Yujue Wang, Lijie Shi, Donna M McDonald-McGinn, T Blaine Crowley, Tiffany Busa

NPJ Genom Med· July 2023

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New insights into -related Joubert syndrome.
Madeleine Harion, Leila Qebibo, Audrey Riquet, Christelle Rougeot, Alexandra Afenjar, Tiffany Busa

J Med Genet· June 2023

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In Marfan Syndrome and Related Diseases, STABILISE Technique Should Be Used with Care: Results from a Volumetric Comparative Study of Endovascular Treatment for Aortic Dissection.
Ron Azogui, Alizee Porto, Maxime Castelli, Virgile Omnes, Mariangela De Masi, Tiffany Busa

J Clin Med· June 2023

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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Pleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Tiffany Busa

Genet Med· February 2023

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Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.
Quentin Testard, Xavier Vanhoye, Kevin Yauy, Marie-Emmanuelle Naud, Gaelle Vieville, Tiffany Busa

J Med Genet· December 2022

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Endovascular Management of Vascular Complications in Ehlers-Danlos Syndrome Type IV.
Mubarak Alqahtani, Amandine Claudinot, Marine Gaudry, Axel Bartoli, Pierre Antoine Barral, Tiffany Busa

J Clin Med· October 2022

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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Pleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Tiffany Busa

Genet Med· August 2022

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Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49.
Mario Abaji, Svetlana Gorokhova, Nathalie Da Silva, Tiffany Busa, Maude Grelet

Genes (Basel)· July 2022

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First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
Bertrand Chesneau, Marion Aubert-Mucca, Félix Fremont, Jacmine Pechmeja, Vincent Soler, Tiffany Busa

Clin Genet· May 2022

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Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients.
Julie Masson, Linda Pons, Tiffany Busa, Chantal Missirian, Matthew Lines

Eur J Med Genet· April 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, Tiffany Busa

Clin Genet· March 2022

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Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.
Claire Forde, Emma Burkitt-Wright, Peter D Turnpenny, Eric Haan, John Ealing, Tiffany Busa

Eur J Hum Genet· March 2022

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Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.
Clarisse Billon, Salma Adham, Natalia Hernandez Poblete, Anne Legrand, Michael Frank, Tiffany Busa

Orphanet J Rare Dis· December 2021

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