Current Issue

September 2024 - Volume 61 - 9

Editorial

Developmental defects

  • Original research: Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective (7 June, 2024)
    Silvestre Cuinat, Chloé Quélin, Claire Effray, Christèle Dubourg, Gwenaelle Le Bouar, Anne-Sophie Cabaret-Dufour, Philippe Loget, Maia Proisy, Fanny Sauvestre, Mélie Sarreau, Sophie Martin-Berenguer, Claire Beneteau, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Aurélien Trimouille, Pierre Macé, Sabine Sigaudy, Olga Glazunova, Julia Torrents, Laure Raymond, Marie-Hélène Saint-Frison, Tania Attié-Bitach, Mathilde Lefebvre, Yline Capri, Nicolas Bourgon, Christel Thauvin-Robinet, Frédéric Tran Mau-Them, Ange-Line Bruel, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Laurence Faivre, Anne-Claire Brehin, Alice Goldenberg, Sophie Patrier-Sallebert, Alexandre Perani, Benjamin Dauriat, Sylvie Bourthoumieu, Catherine Yardin, Valentine Marquet, Marion Barnique, Maryse Fiorenza-Gasq, Isabelle Marey, Danielle Tournadre, Raïa Doumit, Frédérique Nugues, Tahsin Stefan Barakat, Francisco Bustos, Sylvie Jaillard, Erika Launay, Laurent Pasquier, Sylvie Odent
  • Short report:
    Complex structural variation and nonsense variant in trans cause VPS50-related disorder
    (14 June, 2024)
    Laura Hecher, Esther Gorski-Alberts, Matthias Begemann, Johanna Herwig, Eva Lausberg, Georg Hillebrand, Alexander E Volk, Ingo Kurth, Florian Kraft, Kerstin Kutsche

Neurogenetics

Cancer genetics

Phenotypes

  • Original research: Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome (2 July, 2024)
    Vicken Totten, Gisela Teixido-Tura, Fermina Lopez-Grondona, Paula Fernandez-Alvarez, Amaia Lasa-Aranzasti, Patricia Muñoz-Cabello, Rika Kosaki, Eduardo F Tizzano, Wendy Dewals, Emma Borràs, Elena Gonzalez Cañas, Berta Almoguera, Bart Loeys, Irene Valenzuena
  • Original research: Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients (27 June, 2024)
    Hortense Thomas, Tom Alix, Émeline Renard, Mathilde Renaud, Justine Wourms, Stéphane Zuily, Bruno Leheup, David Geneviève, Natacha Dreumont, Emmanuelle Schmitt, Myriam Bronner, Marc Muller, Marion Divoux, Marion Wandzel, Jean-Marie Ravel, Mylène Dexheimer, Aurélie Becker, Virginie Roth, Marjolaine Willems, Christine Coubes, Gaëlle Vieville, Françoise Devillard, Élise Schaefer, Sarah Baer, Amélie Piton, Bénédicte Gérard, Marie Vincent, Mathilde Nizon, Benjamin Cogné, Lyse Ruaud, Nathalie Couque, Audrey Putoux, Patrick Edery, Gaëtan Lesca, Nicolas Chatron, Marianne Till, Laurence Faivre, Frédéric Tran-Mau-Them, Jean-Luc Alessandri, Marine Lebrun, Chloé Quélin, Sylvie Odent, Christèle Dubourg, Véronique David, Marie Faoucher, Cyril Mignot, Boris Keren, Élise Pisan, Alexandra Afenjar, Sophie Julia, Éric Bieth, Guillaume Banneau, Alice Goldenberg, Thomas Husson, Dominique Campion, François Lecoquierre, Gaël Nicolas, Camille Charbonnier, Anne De Saint Martin, Sophie Naudion, Manon Degoutin, Sophie Rondeau, Caroline Michot, Valérie Cormier-Daire, Abderrahim Oussalah, Carine Pourié, Laëtitia Lambert, Céline Bonnet

Immunogenetics

Genotype-phenotype correlations

Somatic mosaicism

Copy-number variation