Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human von Coutton, Charles, Vargas, Alexandra S., Amiri-Yekta, Amir, Kherraf, Zine-Eddine, Ben Mustapha, Selima Fourati, Le Tanno, Pauline, Wambergue-Legrand, Clémentine, Karaouzène, Thomas, Martinez, Guillaume, Crouzy, Serge, Daneshipour, Abbas, Hosseini, Seyedeh Hanieh, Mitchell, Valérie, Halouani, Lazhar, Marrakchi, Ouafi, Makni, Mounir, Latrous, Habib, Kharouf, Mahmoud, Deleuze, Jean-François, Boland, Anne, Hennebicq, Sylviane, Satre, Véronique, Jouk, Pierre-Simon, Thierry-Mieg, Nicolas, Conne, Beatrice, Dacheux, Denis, Landrein, Nicolas, Schmitt, Alain, Stouvenel, Laurence, Lorès, Patrick, El Khouri, Elma, Bottari, Serge P., Fauré, Julien, Wolf, Jean-Philippe, Pernet-Gallay, Karin, Escoffier, Jessica, Gourabi, Hamid, Robinson, Derrick R., Nef, Serge, Dulioust, Emmanuel, Zouari, Raoudha, Bonhivers, Mélanie, Touré, Aminata, Arnoult, Christophe, Ray, Pierre F.

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Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis von Ghesh, Leïla, Désir, Julie, Haye, Damien, Le Tanno, Pauline, Devillard, Françoise, Cogné, Benjamin, Marangoni, Martina, Tecco, Laura, Heron, Delphine, Le Vaillant, Claudine, Joubert, Madeleine, Beneteau, Claire

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Exome Sequencing Detects Uniparental Disomy of Chromosome 4 Revealing a LARP7 Pathogenic Variant Responsible for Alazami Syndrome: A Case Report von Amélie, Buisine-Sbraggia, Julien, Thevenon, Kevin, Yauy, Marie-Emmanuelle, Naud, Jean-Marc, Costa, Fanny, Dubois-Teklali, Marjolaine, Willems, Klaus, Dieterich, Véronique, Satre, Charles, Coutton, Pauline, Le Tanno

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Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases von Vegas, Nancy, Demir, Zeynep, Gordon, Christopher T., Breton, Sylvain, Romanelli Tavares, Vanessa L., Moisset, Hugo, Zechi‐Ceide, Roseli, Kokitsu‐Nakata, Nancy M., Kido, Yasuhiro, Marlin, Sandrine, Gherbi Halem, Souad, Meerschaut, Ilse, Callewaert, Bert, Chung, Brian, Revencu, Nicole, Lehalle, Daphné, Petit, Florence, Propst, Evan J., Papsin, Blake C., Phillips, John H., Jakobsen, Linda, Le Tanno, Pauline, Thévenon, Julien, McGaughran, Julie, Gerkes, Erica H., Leoni, Chiara, Kroisel, Peter, Tan, Tiong Y., Henderson, Alex, Terhal, Paulien, Basel‐Salmon, Lina, Alkindy, Adila, White, Susan M., Passos‐Bueno, Maria R., Pingault, Véronique, De Pontual, Loïc, Amiel, Jeanne

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Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome von Le Tanno, Pauline, Folacci, Mathilde, Revilloud, Jean, Faivre, Laurence, Laurent, Gabriel, Pinson, Lucile, Amedro, Pascal, Millat, Gilles, Janin, Alexandre, Vivaudou, Michel, Roux-Buisson, Nathalie, Fauré, Julien

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Hyperechoic Content of the Fetal Colon Is Not Always Cystinuria-Case Report von Knapke, Antje, Bourdat Michel, Guylhène, Marey, Isabelle, Le Tanno, Pauline

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Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations von Amiri-Yekta, Amir, Coutton, Charles, Kherraf, Zine-Eddine, Karaouzène, Thomas, Le Tanno, Pauline, Sanati, Mohammad Hossein, Sabbaghian, Marjan, Almadani, Navid, Sadighi Gilani, Mohammad Ali, Hosseini, Seyedeh Hanieh, Bahrami, Salahadin, Daneshipour, Abbas, Bini, Maurizio, Arnoult, Christophe, Colombo, Roberto, Gourabi, Hamid, Ray, Pierre F

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KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties von Cioclu, Maria Cristina, Mosca, Ilaria, Ambrosino, Paolo, Puzo, Deborah, Bayat, Allan, Wortmann, Saskia B, Koch, Johannes, Strehlow, Vincent, Shirai, Kentaro, Matsumoto, Naomichi, Sanders, Stephan J, Michaud, Vincent, Legendre, Marine, Riva, Antonella, Striano, Pasquale, Muhle, Hiltrud, Pendziwiat, Manuela, Lesca, Gaetan, Mangano, Giuseppe Donato, Nardello, Rosaria, Lemke, Johannes R, Møller, Rikke S, Soldovieri, Maria Virginia, Rubboli, Guido, Taglialatela, Maurizio

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An Extended Phenotype of PPP1R13L Cardiocutaneous Syndrome von Coudert, Alicia, Thevenon, Julien, Testard, Quentin, Satre, Véronique, Harbuz, Radu, Bouvagnet, Patrice, Rabattu, Pierre-Yves, Coutton, Charles, Le Tanno, Pauline

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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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A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility von Kherraf, Zine-Eddine, Amiri-Yekta, Amir, Dacheux, Denis, Karaouzène, Thomas, Coutton, Charles, Christou-Kent, Marie, Martinez, Guillaume, Landrein, Nicolas, Le Tanno, Pauline, Fourati Ben Mustapha, Selima, Halouani, Lazhar, Marrakchi, Ouafi, Makni, Mounir, Latrous, Habib, Kharouf, Mahmoud, Pernet-Gallay, Karin, Gourabi, Hamid, Robinson, Derrick R., Crouzy, Serge, Blum, Michael, Thierry-Mieg, Nicolas, Touré, Aminata, Zouari, Raoudha, Arnoult, Christophe, Bonhivers, Mélanie, Ray, Pierre F.

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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas von Tolchin, Dara, Yeager, Jessica P., Prasad, Priya, Dorrani, Naghmeh, Russi, Alvaro Serrano, Martinez-Agosto, Julian A., Haseeb, Abdul, Santen, G.W.E., Ruivenkamp, Claudia, Mercimek-Andrews, Saadet, Depienne, Christel, Kuechler, Alma, Mikat, Barbara, Ludecke, Hermann-Josef, Bilan, Frederic, Le Guyader, Gwenael, Gilbert-Dussardier, Brigitte, Keren, Boris, Heide, Solveig, Haye, Damien, Van Esch, Hilde, Keldermans, Liesbeth, Lancaster, Emily, Krantz, Ian D., Krock, Bryan L., DeChene, Elizabeth T., Melistaccio, Giada, Suri, Mohnish, Foulds, Nicola, Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., Furió-Tarí, P., Hackett, J.M., Halai, D., Holman, J.E., Hubbard, T.J.P., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Need, A.C., Odhams, C.A., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Ryten, M., Savage, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Thomas, E.R.A., Thompson, S.R., Tregidgo, C., Tucci, A., Walsh, E., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Begtrup, Amber, Henderson, Lindsay B., Forster, Cara, Reed, Patrick, McDonald, Marie T., McConkie-Rosell, Allyn, Thevenon, Julien, Le Tanno, Pauline, Coutton, Charles, Stewart, Sarah, Maver, Ales, Gorazd, Rudolf, Pichon, Olivier, Nizon, Mathilde, Cogné, Benjamin, Isidor, Bertrand, Stoeva, Radka, Le Caignec, Cédric

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Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases von Vegas, Nancy, Demir, Zeynep, Gordon, Christopher T, Breton, Sylvain, Romanelli Tavares, Vanessa L, Moisset, Hugo, Zechi‐Ceide, Roseli, Kokitsu‐Nakata, Nancy M, Kido, Yasuhiro, Marlin, Sandrine, Gherbi Halem, Souad, Meerschaut, Ilse, Callewaert, Bert, Chung, Brian, Revencu, Nicole, Lehalle, Daphné, Petit, Florence, Propst, Evan J, Papsin, Blake C, Phillips, John H, Jakobsen, Linda, Le Tanno, Pauline, Thévenon, Julien, McGaughran, Julie, Gerkes, Erica H, Leoni, Chiara, Kroisel, Peter, Tan, Tiong Y, Henderson, Alex, Terhal, Paulien, Basel‐Salmon, Lina, Alkindy, Adila, White, Susan M, Passos‐Bueno, Maria R, Pingault, Véronique, De Pontual, Loïc, Amiel, Jeanne

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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas von Tolchin, Dara, Yeager, Jessica P, Prasad, Priya, Dorrani, Naghmeh, Russi, Alvaro Serrano, Martinez-Agosto, Julian A, Haseeb, Abdul, Angelozzi, Marco, Santen, G.W.E, Ruivenkamp, Claudia, Mercimek-Andrews, Saadet, Depienne, Christel, Kuechler, Alma, Mikat, Barbara, Ludecke, Hermann-Josef, Bilan, Frederic, Le Guyader, Gwenael, Gilbert-Dussardier, Brigitte, Keren, Boris, Heide, Solveig, Haye, Damien, Van Esch, Hilde, Keldermans, Liesbeth, Ortiz, Damara, Lancaster, Emily, Krantz, Ian D, Krock, Bryan L, Pechter, Kieran B, Arkader, Alexandre, Medne, Livija, DeChene, Elizabeth T, Calpena, Eduardo, Melistaccio, Giada, Wilkie, Andrew O.M, Suri, Mohnish, Foulds, Nicola, Begtrup, Amber, Henderson, Lindsay B, Forster, Cara, Reed, Patrick, McDonald, Marie T, McConkie-Rosell, Allyn, Thevenon, Julien, Le Tanno, Pauline, Coutton, Charles, Tsai, Anne C.H, Stewart, Sarah, Maver, Ales, Gorazd, Rudolf, Pichon, Olivier, Nizon, Mathilde, Cogne, Benjamin, Isidor, Bertrand, Martin-Coignard, Dominique, Stoeva, Radka, Lefebvre, Veronique, Le Caignec, Cedric

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Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability von Le Tanno, Pauline, Poreau, Brice, Devillard, Francoise, Vieville, Gaëlle, Amblard, Florence, Jouk, Pierre-Simon, Satre, Véronique, Coutton, Charles

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Hyperechoic Content of the Fetal Colon Is Not Always Cystinuria-Case Report von Knapke, Antje, Bourdat Michel, Guylhène, Marey, Isabelle, Le Tanno, Pauline

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