COVID-19 and Down's syndrome: are we heading for a disaster? von Dard, Rodolphe, Janel, Nathalie, Vialard, Francois

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

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Incidental and secondary findings in trio exome sequencing von Cohen, Camille, Bellanger, Emeline, Mortreux, Jeremie, Raymond, Laure, Vialard, François, Dard, Rodolphe

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Metabolic Diseases and Down Syndrome: How Are They Linked Together? von Moreau, Manon, Benhaddou, Soukaina, Dard, Rodolphe, Tolu, Stefania, Hamze, Rim, Vialard, Francois, Movassat, Jamileh, Janel, Nathalie

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The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling von Bouassida, Malek, Molina‐Gomes, Denise, Koraichi, Fairouz, Hervé, Bérénice, Lhuilier, Morgane, Duvillier, Clémence, Le Gall, Jessica, Gauthier‐Villars, Marion, Serazin, Valérie, Quibel, Thibaud, Dard, Rodolphe, Vialard, François

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Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation von Dard, Rodolphe, Mignot, Cyril, Durr, Alexandra, Lesca, Gaetan, Sanlaville, Damien, Roze, Emmanuel, Mochel, Fanny

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Down syndrome and infertility: what support should we provide? von Parizot, Estelle, Dard, Rodolphe, Janel, Nathalie, Vialard, François

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Prenatal Diagnosis of Primrose Syndrome von Abdallah, Wael, Spaggiari, Emmanuel, Brisset, Sophie, Dard, Rodolphe, Attié Bitach, Tania, Bault, Jean Philippe, Quibel, Thibault

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Prenatal treatment with preimplantation factor improves early postnatal neurogenesis and cognitive impairments in a mouse model of Down syndrome von Moreau, Manon, Dard, Rodolphe, Madani, Amélia, Kandiah, Janany, Kassis, Nadim, Ziga, Jessica, Castiglione, Héloïse, Day, Solenn, Bourgeois, Thomas, Matrot, Boris, Vialard, François, Janel, Nathalie

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MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy von Pujol, Claire, Lebigot, Elise, Gaignard, Pauline, Galai, Said, Kraoua, Ichraf, Bault, Jean-Philippe, Dard, Rodolphe, Youssef-Turki, Ilhem Ben, Omar, Souheil, Boutron, Audrey, Wai, Timothy, Slama, Abdelhamid

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Effects of the implementation of second-line prenatal cell-free DNA testing on termination of pregnancy in a French perinatal network von Duvillier, Clémence, Dard, Rodolphe, Hervé, Bérénice, Cohen, Camille, Vialard, François, Quibel, Thibaud

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X-linked transient antenatal Bartter syndrome related to MAGED2 gene: Enriching the phenotypic description and pathophysiologic investigation von Buffet, Alexandre, Filser, Mathilde, Bruel, Alexandra, Dard, Rodolphe, Quibel, Thibaud, Dubucs, Charlotte, Kwon, Theresa, Le Tanno, Pauline, Thevenon, Julien, Ziegler, Alban, Allard, Lise, Guigonis, Vincent, Roux, Jean-Jacques, Heidet, Laurence, Rougeulle, Claire, Boyer, Olivia, Vargas-Poussou, Rosa, Hureaux, Marguerite

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Spermatogonial depletion and a spermatogenesis defect in the Dp(16)1Yey mouse model of Down syndrome von Dard, Rodolphe, Tutunaru, Anastasia, Bouassida, Malek, Balde Camara, Aissatu, Parizot, Estelle, Kassis, Nadim, Fortemps, Joanne, Cierniewski, Céline, Racine, Chrystèle, Clemente, Nathalie di, Vialard, Francois, Janel, Nathalie

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2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review von Bouassida, Malek, Egloff, Matthieu, Levy, Jonathan, Chatron, Nicolas, Bernardini, Laura, Le Guyader, Gwenaël, Tabet, Anne-Claude, Schluth-Bolard, Caroline, Brancati, Francesco, Giuffrida, Maria Grazia, Dard, Rodolphe, Clorennec, Juliette, Coursimault, Juliette, Vialard, François, Hervé, Bérénice

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Prenatal diagnosis of 2q13 duplications: The crucial role of the family survey in genetic counseling on novel copy number variations von Bellil, Hela, Molina-Gomes, Denise, Quibel, Thibaud, Roy, Sophie, Dard, Rodolphe, Vialard, François, Herve, Bérénice

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Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation von Dard, Rodolphe, Meyniel, Claire, Touitou, Valérie, Stevanin, Giovanni, Lamari, Foudil, Durr, Alexandra, Ewenczyk, Claire, Mochel, Fanny

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Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome) von Courdier, Cécile, Boudjarane, John, Malan, Valérie, Muti, Christine, Sperelakis‐Beedham, Brian, Odent, Sylvie, Jaillard, Sylvie, Quelin, Chloé, Le Caignec, Cédric, Patat, Olivier, Dubucs, Charlotte, Julia, Sophie, Schluth‐Bolard, Caroline, Goumy, Carole, Redon, Sylvia, Gaillard, Jean‐Baptiste, Huynh, Minh Tuan, Dupont, Céline, Tabet, Anne‐Claude, Cogan, Guillaume, Vialard, François, Dard, Rodolphe, Jedraszak, Guillaume, Jobic, Florence, Lefebvre, Mathilde, Quenum, Geneviève, Inai, Saori, Rama, Mélanie, Sauvestre, Fanny, Coatleven, Frédéric, Thomas, Julie, Rooryck, Caroline

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Relapsing encephalopathy with cerebellar ataxia related to an ATP 1A3 mutation von Dard, Rodolphe, Mignot, Cyril, Durr, Alexandra, Lesca, Gaetan, Sanlaville, Damien, Roze, Emmanuel, Mochel, Fanny

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Traitement prénatal des troubles du neurodéveloppement : étude de l’effet d’un peptide neuroprotecteur chez un modèle murin de trisomie 21 von Dard, Rodolphe, Moreau, Manon, Vialard, François, Janel, Nathalie

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DYRK1A Overexpression in Mice Downregulates the Gonadotropic Axis and Disturbs Early Stages of Spermatogenesis von Dard, Rodolphe, Moreau, Manon, Parizot, Estelle, Ghieh, Farah, Brehier, Leslie, Kassis, Nadim, Serazin, Valerie, Lamaziere, Antonin, Racine, Chrystele, di Clemente, Nathalie, Vialard, Francois, Janel, Nathalie

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