Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

Authors: Rots, Dmitrijs, Choufani, Sanaa, Faundes, Victor, Dingemans, Alexander J.M., Joss, Shelagh, Foulds, Nicola, Jones, Elizabeth A., Stewart, Sarah, Vasudevan, Pradeep, Dabir, Tabib, Park, Soo-Mi, Jewell, Rosalyn, Brown, Natasha, Pais, Lynn, Jacquemont, Sébastien, Jizi, Khadijé, Ravenswaaij-Arts, Conny M.A. van, Kroes, Hester Y., Stumpel, Constance T.R. M., Ockeloen, Charlotte W., Diets, Illja J., Nizon, Mathilde, Vincent, Marie, Cogné, Benjamin, Besnard, Thomas, Kambouris, Marios, Anderson, Emily, Zackai, Elaine H., McDougall, Carey, Donoghue, Sarah, O'Donnell-Luria, Anne, Valivullah, Zaheer, O'Leary, Melanie, Srivastava, Siddharth, Byers, Heather, Leslie, Nancy, Mazzola, Sarah, Tiller, George E., Vera, Moin, Shen, Joseph J., Boles, Richard, Jain, Vani, Brischoux-Boucher, Elise, Kinning, Esther, Simpson, Brittany N., Giltay, Jacques C., Harris, Jacqueline, Keren, Boris, Guimier, Anne, Marijon, Pierre, Vries, Bert B.A. de, Motter, Constance S., Mendelsohn, Bryce A., Coffino, Samantha, Gerkes, Erica H., Afenjar, Alexandra, Visconti, Paola, Bacchelli, Elena, Maestrini, Elena, Delahaye-Duriez, Andree, Gooch, Catherine, Hendriks, Yvonne, Adams, Hieab, Thauvin-Robinet, Christel, Josephi-Taylor, Sarah, Bertoli, Marta, Parker, Michael J., Rutten, Julie W., Caluseriu, Oana, Vernon, Hilary J., Kaziyev, Jonah, Zhu, Jia, Kremen, Jessica, Frazier, Zoe, Osika, Hailey, Breault, David, Nair, Sreelata, Lewis, Suzanne M.E., Ceroni, Fabiola, Viggiano, Marta, Posar, Annio, Brittain, Helen, Giovanna, Traficante, Giulia, Gori, Quteineh, Lina, Ha-Vinh Leuchter, Russia, Zonneveld-Huijssoon, Evelien, Mellado, Cecilia, Marey, Isabelle, Coudert, Alicia, Aracena Alvarez, Mariana Inés, Kennis, Milou G.P., Bouman, Arianne, Roifman, Maian, Amorós Rodríguez, María Inmaculada, Ortigoza-Escobar, Juan Dario, Vernimmen, Vivian, Sinnema, Margje, Pfundt, Rolph, Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Weksberg, Rosanna, Banka, Siddharth

Source: In The American Journal of Human Genetics 8 August 2024 111(8):1626-1642

An Extended Phenotype of PPP1R13L Cardiocutaneous Syndrome.

Authors: Coudert, Alicia, Thevenon, Julien, Testard, Quentin, Satre, Véronique, Harbuz, Radu, Bouvagnet, Patrice, Rabattu, Pierre‐Yves, Coutton, Charles, Le Tanno, Pauline

Source: American Journal of Medical Genetics. Part A; Apr2025, Vol. 197 Issue 4, p1-5, 5p

Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters

Authors: Coudert, Alicia, Cazin, Caroline, Amiri-Yekta, Amir, Fourati Ben Mustapha, Selima, Zouari, Raoudha, Bessonat, Julien, Zoghmar, Abdelali, Clergeau, Antoine, Metzler-Guillemain, Catherine, Triki, Chema, Lejeune, Hervé, Sermondade, Nathalie, Pipiras, Eva, Prisant, Nadia, Cedrin, Isabelle, Koscinski, Isabelle, Keskes, Leila, Lestrade, Florence, Hesters, Laetitia, Rives, Nathalie, Dorphin, Béatrice, Guichet, Agnes, Patrat, Catherine, Dulioust, Emmanuel, Feraille, Aurélie, Robert, François, Brouillet, Sophie, Morel, Frédéric, Perrin, Aurore, Rougier, Nathalie, Bieth, Eric, Sorlin, Arthur, Siffroi, Jean-Pierre, Ben Khelifa, Mariem, Boiterelle, Florence, Hennebicq, Sylvianne, Satre, Veronique, Arnoult, Christophe, Coutton, Charles, Barbotin, Anne-Laure, Thierry-Mieg, Nicolas, Kherraf, Zine-Eddine, Ray, Pierre F.

Source: In Journal of Genetics and Genomics July 2023 50(7):536-540