Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice von Coutton, Charles, Martinez, Guillaume, Kherraf, Zine-Eddine, Amiri-Yekta, Amir, Boguenet, Magalie, Saut, Antoine, He, Xiaojin, Zhang, Feng, Cristou-Kent, Marie, Escoffier, Jessica, Bidart, Marie, Satre, Véronique, Conne, Béatrice, Fourati Ben Mustapha, Selima, Halouani, Lazhar, Marrakchi, Ouafi, Makni, Mounir, Latrous, Habib, Kharouf, Mahmoud, Pernet-Gallay, Karin, Bonhivers, Mélanie, Hennebicq, Sylviane, Rives, Nathalie, Dulioust, Emmanuel, Touré, Aminata, Gourabi, Hamid, Cao, Yunxia, Zouari, Raoudha, Hosseini, Seyedeh Hanieh, Nef, Serge, Thierry-Mieg, Nicolas, Arnoult, Christophe, Ray, Pierre F.

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CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report von Beurois, Julie, Martinez, Guillaume, Cazin, Caroline, Kherraf, Zine-Eddine, Amiri-Yekta, Amir, Thierry-Mieg, Nicolas, Bidart, Marie, Petre, Graciane, Satre, Véronique, Brouillet, Sophie, Touré, Aminata, Arnoult, Christophe, Ray, Pierre F, Coutton, Charles

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Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function von Dacheux, Denis, Martinez, Guillaume, Broster Reix, Christine E, Beurois, Julie, Lores, Patrick, Tounkara, Magamba, Dupuy, Jean-William, Robinson, Derrick Roy, Loeuillet, Corinne, Lambert, Emeline, Wehbe, Zeina, Escoffier, Jessica, Amiri-Yekta, Amir, Daneshipour, Abbas, Hosseini, Seyedeh-Hanieh, Zouari, Raoudha, Mustapha, Selima Fourati Ben, Halouani, Lazhar, Jiang, Xiaohui, Shen, Ying, Liu, Chunyu, Thierry-Mieg, Nicolas, Septier, Amandine, Bidart, Marie, Satre, Véronique, Cazin, Caroline, Kherraf, Zine Eddine, Arnoult, Christophe, Ray, Pierre F, Toure, Aminata, Bonhivers, Mélanie, Coutton, Charles

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Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse von Shen, Qunshan, Martinez, Guillaume, Liu, Hongbin, Beurois, Julie, Wu, Huan, Amiri-Yekta, Amir, Liang, Dan, Kherraf, Zine-Eddine, Bidart, Marie, Cazin, Caroline, Celse, Tristan, Satre, Véronique, Thierry-Mieg, Nicolas, Whitfield, Marjorie, Touré, Aminata, Song, Bing, Lv, Mingrong, Li, Kuokuo, Liu, Chunyu, Tao, Fangbiao, He, Xiaojin, Zhang, Feng, Arnoult, Christophe, Ray, Pierre F., Cao, Yunxia, Coutton, Charles

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A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation von Harbuz, Radu, Zouari, Raoudha, Pierre, Virginie, Ben Khelifa, Mariem, Kharouf, Mahmoud, Coutton, Charles, Merdassi, Ghaya, Abada, Farid, Escoffier, Jessica, Nikas, Yorgos, Vialard, François, Koscinski, Isabelle, Triki, Chema, Sermondade, Nathalie, Schweitzer, Thérèse, Zhioua, Amel, Zhioua, Fethi, Latrous, Habib, Halouani, Lazhar, Ouafi, Marrakchi, Makni, Mounir, Jouk, Pierre-Simon, Sèle, Bernard, Hennebicq, Sylviane, Satre, Véronique, Viville, Stéphane, Arnoult, Christophe, Lunardi, Joël, Ray, Pierre F.

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New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella von Martinez, Guillaume, Barbotin, Anne-Laure, Cazin, Caroline, Wehbe, Zeina, Boursier, Angèle, Amiri-Yekta, Amir, Daneshipour, Abbas, Hosseini, Seyedeh-Hanieh, Rives, Nathalie, Feraille, Aurélie, Thierry-Mieg, Nicolas, Bidart, Marie, Satre, Véronique, Arnoult, Christophe, Ray, Pierre F, Kherraf, Zine-Eddine, Coutton, Charles

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Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry von Del Llano, Edgar, Perrin, Aurore, Morel, Frédéric, Devillard, Françoise, Harbuz, Radu, Satre, Véronique, Amblard, Florence, Bidart, Marie, Hennebicq, Sylviane, Brouillet, Sophie, Ray, Pierre F, Coutton, Charles, Martinez, Guillaume

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FISH and Chimps: Insights into Frequency and Distribution of Sperm Aneuploidy in Chimpanzees (Pan troglodytes) von Guyot, Charlotte, Gandula, Marlène, Noordermeer, Wendy, François-Brazier, Céline, Moigno, Rosemary, Bessonnat, Julien, Brouillet, Sophie, Dhellemmes, Magali, Bidart, Marie, Arnoult, Christophe, Satre, Véronique, Coutton, Charles, Martinez, Guillaume

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SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes von Kherraf, Zine‐Eddine, Christou‐Kent, Marie, Karaouzene, Thomas, Amiri‐Yekta, Amir, Martinez, Guillaume, Vargas, Alexandra S, Lambert, Emeline, Borel, Christelle, Dorphin, Béatrice, Aknin‐Seifer, Isabelle, Mitchell, Michael J, Metzler‐Guillemain, Catherine, Escoffier, Jessica, Nef, Serge, Grepillat, Mariane, Thierry‐Mieg, Nicolas, Satre, Véronique, Bailly, Marc, Boitrelle, Florence, Pernet‐Gallay, Karin, Hennebicq, Sylviane, Fauré, Julien, Bottari, Serge P, Coutton, Charles, Ray, Pierre F, Arnoult, Christophe

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Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population von Coutton, Charles, Abada, Farid, Karaouzene, Thomas, Sanlaville, Damien, Satre, Véronique, Lunardi, Joël, Jouk, Pierre-Simon, Arnoult, Christophe, Thierry-Mieg, Nicolas, Ray, Pierre F

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Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology von Faucherre, Adèle, Desbois, Pierrette, Nagano, Fumiko, Satre, Véronique, Lunardi, Joël, Gacon, Gérard, Dorseuil, Olivier

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Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse von Dong, Frederick N., Amiri-Yekta, Amir, Martinez, Guillaume, Saut, Antoine, Tek, Julie, Stouvenel, Laurence, Lorès, Patrick, Karaouzène, Thomas, Thierry-Mieg, Nicolas, Satre, Véronique, Brouillet, Sophie, Daneshipour, Abbas, Hosseini, Seyedeh Hanieh, Bonhivers, Mélanie, Gourabi, Hamid, Dulioust, Emmanuel, Arnoult, Christophe, Touré, Aminata, Ray, Pierre F., Zhao, Haiqing, Coutton, Charles

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Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella von Martinez, Guillaume, Kherraf, Zine-Eddine, Zouari, Raoudha, Fourati Ben Mustapha, Selima, Saut, Antoine, Pernet-Gallay, Karin, Bertrand, Anne, Bidart, Marie, Hograindleur, Jean Pascal, Amiri-Yekta, Amir, Kharouf, Mahmoud, Karaouzène, Thomas, Thierry-Mieg, Nicolas, Dacheux-Deschamps, Denis, Satre, Véronique, Bonhivers, Mélanie, Touré, Aminata, Arnoult, Christophe, Ray, Pierre F, Coutton, Charles

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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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Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection von Wambergue, Clémentine, Zouari, Raoudha, Fourati Ben Mustapha, Selima, Martinez, Guillaume, Devillard, Françoise, Hennebicq, Sylviane, Satre, Véronique, Brouillet, Sophie, Halouani, Lazhar, Marrakchi, Ouafi, Makni, Mounir, Latrous, Habib, Kharouf, Mahmoud, Amblard, Florence, Arnoult, Christophe, Ray, Pierre F., Coutton, Charles

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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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From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes von Hichri, Haifa, Rendu, John, Monnier, Nicole, Coutton, Charles, Dorseuil, Olivier, Poussou, Rosa Vargas, Baujat, Geneviève, Blanchard, Anne, Nobili, François, Ranchin, Bruno, Remesy, Michel, Salomon, Rémi, Satre, Véronique, Lunardi, Joel

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Expanding MNS1 Heterotaxy Phenotype von Maraval, Julien, Delahaye‐Duriez, Andrée, Racine, Caroline, Bruel, Ange‐Line, Denommé‐Pichon, Anne‐Sophie, Gaudillat, Léa, Thauvin‐Robinet, Christel, Lucain, Marie, Satre, Véronique, Coutton, Charles, Sainte Agathe, Jean‐Madelaine, Keren, Boris, Faivre, Laurence

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Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11 von Goldenberg, Alice, Riccardi, Florence, Tessier, Aude, Pfundt, Rolph, Busa, Tiffany, Cacciagli, Pierre, Capri, Yline, Coutton, Charles, Delahaye-Duriez, Andree, Frebourg, Thierry, Gatinois, Vincent, Guerrot, Anne-Marie, Genevieve, David, Lecoquierre, Francois, Jacquette, Aurélia, Khau Van Kien, Philippe, Leheup, Bruno, Marlin, Sandrine, Verloes, Alain, Michaud, Vincent, Nadeau, Gwenael, Mignot, Cyril, Parent, Philippe, Rossi, Massimiliano, Toutain, Annick, Schaefer, Elise, Thauvin-Robinet, Christel, Van Maldergem, Lionel, Thevenon, Julien, Satre, Véronique, Perrin, Laurence, Vincent-Delorme, Catherine, Sorlin, Arthur, Missirian, Chantal, Villard, Laurent, Mancini, Julien, Saugier-Veber, Pascale, Philip, Nicole

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Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases von Jedraszak, Guillaume, Jobic, Florence, Receveur, Aline, Bilan, Frédéric, Gilbert‐Dussardier, Brigitte, Tiffany, Busa, Missirian, Chantal, Willems, Marjolaine, Odent, Sylvie, Lucas, Josette, Dubourg, Christele, Schaefer, Elise, Scheidecker, Sophie, Lespinasse, James, Goldenberg, Alice, Guerrot, Anne‐Marie, Joly‐Helas, Géraldine, Chambon, Pascal, Le Caignec, Cédric, David, Albert, Coutton, Charles, Satre, Véronique, Vieville, Gaëlle, Amblard, Florence, Harbuz, Radu, Sanlaville, Damien, Till, Marianne, Vincent‐Delorme, Catherine, Colson, Cindy, Andrieux, Joris, Naudion, Sophie, Toutain, Jérome, Rooryck, Caroline, Fréminville, Bénédicte, Prieur, Fabienne, Daire, Valérie Cormier, Amram, Daniel, Kleinfinger, Pascale, Schulze, Matthias B., Raabe‐Meyer, Gisela, Courage, Carolina, Lemke, Johannes, Stefanou, Eunice G., Loretta, Thomaidis, Emmanouil, Manolakos, Tzeli, Sophia Kitsiou, Sodowska, Henryka, Anderson, Jasen, Nandini, Adayapalam, Copin, Henri, Garçon, Loïc, Liehr, Thomas, Morin, Gilles

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