Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features

Authors: Kornak, Uwe, Saha, Namrata, Keren, Boris, Neumann, Alexander, Taylor Tavares, Ana Lisa, Piard, Juliette, Kopp, Johannes, Rodrigues Alves, João Guilherme, Rodríguez de los Santos, Miguel, El Choubassi, Naji, Ehmke, Nadja, Jäger, Marten, Spielmann, Malte, Pantel, Jean Tori, Lejeune, Elodie, Fauler, Beatrix, Mielke, Thorsten, Hecht, Jochen, Meierhofer, David, Strom, Tim M., Laugel, Vincent, Brice, Alexis, Mundlos, Stefan, Bertoli-Avella, Aida, Bauer, Peter, Heyd, Florian, Boute, Odile, Dupont, Juliette, Depienne, Christel, Van Maldergem, Lionel, Fischer-Zirnsak, Björn

Source: In Genetics in Medicine September 2022 24(9):1927-1940

Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literature

Authors: Lesieur-Sebellin, Marion, Capri, Yline, Grisval, Margot, Courtin, Thomas, Burtz, Augustine, Thevenon, Julien, Buratti, Julien, Lejeune, Elodie, Faivre, Laurence, Keren, Boris

Source: In European Journal of Medical Genetics November 2021 64(11)

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

Authors: Heide, Solveig, Spentchian, Myrtille, Valence, Stéphanie, Buratti, Julien, Mach, Corinne, Lejeune, Elodie, Olin, Valérie, Massimello, Marta, Lehalle, Daphné, Mouthon, Linda, Whalen, Sandra, Faudet, Anne, Mignot, Cyril, Garel, Catherine, Blondiaux, Eleonore, Lefebvre, Mathilde, Quenum-Miraillet, Geneviève, Chantot-Bastaraud, Sandra, Milh, Mathieu, Bretelle, Florence, Portes, Vincent des, Guibaud, Laurent, Putoux, Audrey, Tsatsaris, Vassili, Spodenkiewic, Marta, Layet, Valérie, Dard, Rodolphe, Mandelbrot, Laurent, Guet, Agnès, Moutton, Sébastien, Gorce, Magali, Nizon, Mathilde, Vincent, Marie, Beneteau, Claire, Rocchisanni, Marie-Amélie, Benachi, Alexandra, Saada, Julien, Attié-Bitach, Tania, Guilbaud, Lucie, Maurice, Paul, Friszer, Stéphanie, Jouannic, Jean-Marie, de Villemeur, Thierry Billette, Moutard, Marie-Laure, Keren, Boris, Héron, Delphine

Source: In Genetics in Medicine November 2020 22(11):1887-1891

The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome

Authors: Larcher, Lise, Norris, Joy W., Lejeune, Elodie, Buratti, Julien, Mignot, Cyril, Garel, Catherine, Keren, Boris, Schwartz, Charles E., Whalen, Sandra

Source: In European Journal of Medical Genetics April 2020 63(4)

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

Authors: Heide, Solveig ^*, Keren, Boris, Billette de Villemeur, Thierry, Chantot-Bastaraud, Sandra, Depienne, Christel, Nava, Caroline, Mignot, Cyril, Jacquette, Aurélia, Fonteneau, Eric, Lejeune, Elodie, Mach, Corinne, Marey, Isabelle, Whalen, Sandra, Lacombe, Didier, Naudion, Sophie, Rooryck, Caroline, Toutain, Annick, Caignec, Cédric Le, Haye, Damien, Olivier-Faivre, Laurence, Masurel-Paulet, Alice, Thauvin-Robinet, Christel, Lesne, Fabien, Faudet, Anne, Ville, Dorothée, des Portes, Vincent, Sanlaville, Damien, Siffroi, Jean-Pierre, Moutard, Marie-Laure, Héron, Delphine

Source: In The Journal of Pediatrics June 2017 185:160-166

Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy.

Authors: Papadopoulos, Constantinos, Malfatti, Edoardo, Métay, Corinne, Keren, Boris, Lejeune, Elodie, Buratti, Julien, Xirou, Sophia, Chrysanthou-Piterou, Margarita, Papadimas, George K.

Source: International Journal of Molecular Sciences; Jul2023, Vol. 24 Issue 13, p11181, 10p

Subject Terms: INTERMEDIATE filament proteins, MUSCLE diseases, GENETIC variation, CARDIOMYOPATHIES, NEMALINE myopathy, RNA, HEART, DEEP brain stimulation

Suzanne Bidault : une pionnière oubliée

Authors: Lejeune, Élodie

Source: Relations internationales, 2004 Jul 01(118), 139-154.

Access URL: https://www.jstor.org/stable/45342477

Loss of function of ADNPby an intragenic inversion

Authors: Georget, Mathieu, Lejeune, Elodie, Buratti, Julien, Servant, Euphrasie, le Guern, Eric, Heron, Delphine, Keren, Boris, de Sainte Agathe, Jean-Madeleine

Source: European Journal of Human Genetics: EJHG; August 2023, Vol. 31 Issue: 8 p967-970, 4p

Alternative splicing of BUD13determines the severity of a developmental disorder with lipodystrophy and progeroid features

Authors: Kornak, Uwe, Saha, Namrata, Keren, Boris, Neumann, Alexander, Taylor Tavares, Ana Lisa, Piard, Juliette, Kopp, Johannes, Rodrigues Alves, João Guilherme, Rodríguez de los Santos, Miguel, El Choubassi, Naji, Ehmke, Nadja, Jäger, Marten, Spielmann, Malte, Pantel, Jean Tori, Lejeune, Elodie, Fauler, Beatrix, Mielke, Thorsten, Hecht, Jochen, Meierhofer, David, Strom, Tim M., Laugel, Vincent, Brice, Alexis, Mundlos, Stefan, Bertoli-Avella, Aida, Bauer, Peter, Heyd, Florian, Boute, Odile, Dupont, Juliette, Depienne, Christel, Van Maldergem, Lionel, Fischer-Zirnsak, Björn

Source: Genetics in Medicine; September 2022, Vol. 24 Issue: 9 p1927-1940, 14p

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