Neu Laxova syndrome and megacystis in the first trimester: Broadening the fetal phenotype von Bourgon, Nicolas, Chen, Ruiqian, Grangé, Gilles, Grotto, Sarah, Molac, Clémence, Loeuillet, Laurence, Attié‐Bitach, Tania

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Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit (GSS) von Jury, Jeanne, Benoist, Jean‐François, Joubert, Madeleine, Quelin, Chloé, Besnard, Thomas, Conrad, Solène, Le Vaillant, Claudine, Bézieau, Stéphane, Isidor, Bertrand, Attié‐Bitach, Tania, Cogné, Benjamin, Vincent, Marie

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Artificial intelligence‐based diagnosis in fetal pathology using external ear shapes von Hennocq, Quentin, Garcelon, Nicolas, Bongibault, Thomas, Bouygues, Thomas, Marlin, Sandrine, Amiel, Jeanne, Boutaud, Lucile, Douillet, Maxime, Lyonnet, Stanislas, Pingault, Vèronique, Picard, Arnaud, Rio, Marlèe, Attie‐Bitach, Tania, Khonsari, Roman H., Roux, Nathalie

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Clinical heterogeneity of NADSYN1‐associated VCRL syndrome von Aubert‐Mucca, Marion, Janel, Caroline, Porquet‐Bordes, Valérie, Patat, Olivier, Touraine, Renaud, Edouard, Thomas, Michot, Caroline, Tessier, Aude, Cormier‐Daire, Valérie, Attie‐Bitach, Tania, Baujat, Geneviève

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EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion‐Almeida type von Thomas, Huw B., Wood, Katherine A., Buczek, Weronika A., Gordon, Christopher T., Pingault, Véronique, Attié‐Bitach, Tania, Hentges, Kathryn E., Varghese, Vinod C., Amiel, Jeanne, Newman, William G., O'Keefe, Raymond T.

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Investigating genotype‐to‐phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering von Dana, Jérémy, Dorval, Guillaume, Martin, Christine Saint, Belhous, Kahina, Levy, Raphael, Marlin, Sandrine, De Bie, Isabelle, Mautret‐Godefroy, Manon, Rausell, Antonio, Rio, Marlène, Boucher‐Brischoux, Elise, Attié‐Bitach, Tania, Boddaert, Nathalie, Pingault, Véronique

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Morphological and genetic causes of fetal cardiomyopathies von Kohaut, Eva, Ader, Flavie, Rooryck, Caroline, Pelluard, Fanny, Bonnière, Maryse, André, Gwenaelle, Sauvestre, Fanny, Roth, Philippe, Khraiche, Diala, Bessières, Bettina, Attié‐Bitach, Tania, Richard, Pascale

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Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases von Jordan, Penelope, Dorval, Guillaume, Arrondel, Christelle, Morinière, Vincent, Tournant, Carole, Audrezet, Marie‐Pierre, Michel‐Calemard, Laurence, Putoux, Audrey, Lesca, Gaethan, Labalme, Audrey, Whalen, Sandra, Loeuillet, Laurence, Martinovic, Jelena, Attie‐Bitach, Tania, Bessières, Bettina, Schaefer, Elise, Scheidecker, Sophie, Lambert, Laetitia, Beneteau, Claire, Patat, Olivier, Boute‐Benejean, Odile, Molin, Arnaud, Guimiot, Fabien, Fontanarosa, Nicolas, Nizon, Mathilde, Lefebvre, Mathilde, Jeanpierre, Cécile, Saunier, Sophie, Heidet, Laurence

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GGCX‐related congenital combined vitamin K‐dependent clotting factors deficiency‐1: Description of a fetus with chondrodysplasia punctata von Mathonnet, Alix, Cunat, Séverine, Allias, Fabienne, Caillot, Sandrine, Thonnon, Cyrielle, Till, Marianne, Attié‐Bitach, Tania, Touraine, Renaud, Meunier, Sandrine, Cartellier, Charline, Rossi, Massimiliano, Attia, Jocelyne, Putoux, Audrey

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Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy data von Lamouroux, Audrey, Dauge, Coralie, Wells, Constance, Mousty, Eve, Pinson, Lucile, Cavé, Hélène, Capri, Yline, Faure, Jean‐Michel, Grosjean, Frédéric, Sauvestre, Fanny, Attié‐Bitach, Tania, Pelluard, Fanny, Geneviève, David

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Novel CDK10 variants with multicystic dysplastic kidney, left ventricular non‐compaction, and a solitary median maxillary central incisor von Darcha, Claude, Laffargue, Fanny, Boutaud, Lucile, Gallot, Denis, Dauphin, Claire, Garcier, Jean Marc, Achaiaa, Amale, Nitschke, Patrick, Fourrage, Cécile, Goumy, Carole, Attie‐Bitach, Tania

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A clinical and histopathological study of malformations observed in fetuses infected by the Zika virus von Beaufrère, Aurélie, Bessières, Bettina, Bonnière, Maryse, Driessen, Marine, Alfano, Christian, Couderc, Thérèse, Thiry, Marc, Thelen, Nicolas, Lecuit, Marc, Attié‐Bitach, Tania, Vekemans, Michel, Ville, Yves, Nguyen, Laurent, Leruez‐Ville, Marianne, Encha‐Razavi, Férechté

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First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients von Chesneau, Bertrand, Aubert‐Mucca, Marion, Fremont, Félix, Pechmeja, Jacmine, Soler, Vincent, Isidor, Bertrand, Nizon, Mathilde, Dollfus, Hélène, Kaplan, Josseline, Fares‐Taie, Lucas, Rozet, Jean‐Michel, Busa, Tiffany, Lacombe, Didier, Naudion, Sophie, Amiel, Jeanne, Rio, Marlène, Attie‐Bitach, Tania, Lesage, Cécile, Thouvenin, Dominique, Odent, Sylvie, Morel, Godelieve, Vincent‐Delorme, Catherine, Boute, Odile, Vanlerberghe, Clémence, Dieux, Anne, Boussion, Simon, Faivre, Laurence, Pinson, Lucile, Laffargue, Fanny, Le Guyader, Gwenaël, Le Meur, Guylène, Prieur, Fabienne, Lambert, Victor, Laudier, Beatrice, Cottereau, Edouard, Ayuso, Carmen, Corton‐Pérez, Marta, Bouneau, Laurence, Le Caignec, Cédric, Gaston, Véronique, Jeanton‐Scaramouche, Claire, Dupin‐Deguine, Delphine, Calvas, Patrick, Chassaing, Nicolas, Plaisancié, Julie

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SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects von Hureaux, Marguerite, Ben Miled, Selima, Chatron, Nicolas, Coussement, Aurelie, Bessières, Bettina, Egloff, Matthieu, Mechler, Charlotte, Stirnemann, Julien, Tsatsaris, Vassilis, Barcia, Giulia, Turleau, Catherine, Ville, Yves, Encha‐Razavi, Ferechte, Attie‐Bitach, Tania, Malan, Valérie

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Inappropriate p53 activation during development induces features of CHARGE syndrome von Van Nostrand, Jeanine L., Brady, Colleen A., Jung, Heiyoun, Fuentes, Daniel R., Kozak, Margaret M., Johnson, Thomas M., Lin, Chieh-Yu, Lin, Chien-Jung, Swiderski, Donald L., Vogel, Hannes, Bernstein, Jonathan A., Attié-Bitach, Tania, Chang, Ching-Pin, Wysocka, Joanna, Martin, Donna M., Attardi, Laura D.

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Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia von Ranza, Emmanuelle, Le Gouez, Morgane, Guimier, Anne, Dunlop, Naziha Khen, Beaudoin, Sylvie, Malan, Valérie, Michot, Caroline, Baujat, Geneviève, Rio, Marlène, Cormier‐Daire, Valérie, Abadie, Véronique, Sarnacki, Sabine, Delacourt, Christophe, Lyonnet, Stanislas, Attié‐Bitach, Tania, Pingault, Véronique, Rousseau, Véronique, Amiel, Jeanne

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The first two non‐Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome von Ghesh, Leïla, Musquer, Marie Denis, Devisme, Louise, Stichelbout, Morgane, Boutaud, Lucile, Elkhartoufi, Nadia, Vaast, Pascal, Boute, Odile, Riteau, Anne‐Sophie, Le Vaillant, Claudine, Winer, Norbert, Joubert, Madeleine, Bezieau, Stéphane, Thomas, Sophie, Attie‐Bitach, Tania, Beneteau, Claire

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Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene von Billon, Clarisse, Molin, Arnaud, Poirsier, Céline, Clemenson, Alix, Dauge, Coralie, Grelet, Maude, Sigaudy, Sabine, Patrier, Sophie, Goldenberg, Alice, Layet, Valérie, Tantau, Julia, Fleury, Clémence, Liard, Agnès, Diguet, Alain, Fritih, Radia, Verspyck, Eric, Rendu, John, Boutaud, Lucile, Tessier, Aude, Thomas, Sophie, Razavi, Ferechté, Achaiaa, Amale, Elkhartoufi, Nadia, Hakkakian, Leila, Magnin, Eglantine, Bôle‐Feysot, Christine, Masson, Cécile, Ville, Yves, Roth, Philippe, Prieur, Fabienne, Bessieres, Bettina, Bonniere, Maryse, Attie‐Bitach, Tania

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Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis von Quélin, Chloé, Loget, Philippe, Boutaud, Lucile, Elkhartoufi, Nadia, Milon, Joelle, Odent, Sylvie, Fradin, Mélanie, Demurger, Florence, Pasquier, Laurent, Thomas, Sophie, Attié‐Bitach, Tania

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Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly von El Mouatani, Ahmed, Van Winckel, Géraldine, Zaafrane‐Khachnaoui, Khaoula, Whalen, Sandra, Achaiaa, Amale, Kaltenbach, Sophie, Superti‐Furga, Andrea, Vekemans, Michel, Fodstad, Heidi, Giuliano, Fabienne, Attie‐Bitach, Tania

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