OC07.07: Exome sequencing for structurally normal fetuses: yields and dilemmas von Daum, H., Harel, T., Eilat, A., Fahham, D., Gershon‐ Naamat, S., Basal, A., Rosenbluh, C., Yanai, N., Porat, S., Kabiri, D., Yagel, S., Valsky, D.V., Elpeleg, O., Meiner, V., Mor‐Shaked, H.

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Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome von Engal, E, Oja, KT, Maroofian, R, Geminder, O, Le, TL, Marzin, P, Guimier, A, Mor, E, Zvi, N, Elefant, N, Zaki, MS, Gleeson, JG, Muru, K, Pajusalu, S, Wojcik, MH, Pachat, D, Elmaksoud, MA, Chan Jeong, W, Lee, H, Bauer, P, Zifarelli, G, Houlden, H, Daana, M, Elpeleg, O, Amiel, J, Lyonnet, S, Gordon, CT, Harel, T, Õunap, K, Salton, M, Mor-Shaked, H

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SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia von Srivastava, Siddharth, Shaked, Hagar Mor, Gable, Kenneth, Gupta, Sita D, Pan, Xueyang, Somashekarappa, Niranjanakumari, Han, Gongshe, Mohassel, Payam, Gotkine, Marc, Doney, Elizabeth, Goldenberg, Paula, Tan, Queenie K G, Gong, Yi, Kleinstiver, Benjamin, Wishart, Brian, Cope, Heidi, Pires, Claudia Brito, Stutzman, Hannah, Spillmann, Rebecca C, Sadjadi, Reza, Elpeleg, Orly, Lee, Chia-Hsueh, Bellen, Hugo J, Edvardson, Simon, Eichler, Florian, Dunn, Teresa M

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Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome von Engal, Eden, Oja, Kaisa Teele, Maroofian, Reza, Geminder, Ophir, Le, Thuy-Linh, Marzin, Pauline, Guimier, Anne, Mor, Evyatar, Zvi, Naama, Elefant, Naama, Zaki, Maha S., Gleeson, Joseph G., Muru, Kai, Pajusalu, Sander, Wojcik, Monica H., Pachat, Divya, Elmaksoud, Marwa Abd, Chan Jeong, Won, Lee, Hane, Bauer, Peter, Zifarelli, Giovanni, Houlden, Henry, Daana, Muhannad, Elpeleg, Orly, Amiel, Jeanne, Lyonnet, Stanislas, Gordon, Christopher T., Harel, Tamar, Õunap, Katrin, Salton, Maayan, Mor-Shaked, Hagar

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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy von Hengel, Holger, Bosso-Lefèvre, Célia, Grady, George, Szenker-Ravi, Emmanuelle, Li, Hankun, Pierce, Sarah, Lebigot, Élise, Tan, Thong-Teck, Eio, Michelle Y., Narayanan, Gunaseelan, Utami, Kagistia Hana, Yau, Monica, Handal, Nader, Deigendesch, Werner, Keimer, Reinhard, Marzouqa, Hiyam M., Gunay-Aygun, Meral, Muriello, Michael J., Verhelst, Helene, Weckhuysen, Sarah, Mahida, Sonal, Naidu, Sakkubai, Thomas, Terrence G., Lim, Jiin Ying, Tan, Ee Shien, Haye, Damien, Willemsen, Michèl A. A. P., Oegema, Renske, Mitchell, Wendy G., Pierson, Tyler Mark, Andrews, Marisa V., Willing, Marcia C., Rodan, Lance H., Barakat, Tahsin Stefan, van Slegtenhorst, Marjon, Gavrilova, Ralitza H., Martinelli, Diego, Gilboa, Tal, Tamim, Abdullah M., Hashem, Mais O., AlSayed, Moeenaldeen D., Abdulrahim, Maha M., Al-Owain, Mohammed, Awaji, Ali, Mahmoud, Adel A. H., Faqeih, Eissa A., Asmari, Ali Al, Algain, Sulwan M., Jad, Lamyaa A., Aldhalaan, Hesham M., Helbig, Ingo, Koolen, David A., Riess, Angelika, Kraegeloh-Mann, Ingeborg, Bauer, Peter, Gulsuner, Suleyman, Stamberger, Hannah, Ng, Alvin Yu Jin, Tang, Sha, Tohari, Sumanty, Keren, Boris, Schultz-Rogers, Laura E., Klee, Eric W., Barresi, Sabina, Tartaglia, Marco, Mor-Shaked, Hagar, Maddirevula, Sateesh, Begtrup, Amber, Telegrafi, Aida, Pfundt, Rolph, Schüle, Rebecca, Ciruna, Brian, Bonnard, Carine, Pouladi, Mahmoud A., Stewart, James C., Claridge-Chang, Adam, Lefeber, Dirk J., Alkuraya, Fowzan S., Mathuru, Ajay S., Venkatesh, Byrappa, Barycki, Joseph J., Simpson, Melanie A., Jamuar, Saumya S., Schöls, Ludger, Reversade, Bruno

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Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder von Küry, Sébastien, Ebstein, Frédéric, Mollé, Alice, Besnard, Thomas, Lee, Ming-Kang, Vignard, Virginie, Hery, Tiphaine, Nizon, Mathilde, Mancini, Grazia M.S., Giltay, Jacques C., Cogné, Benjamin, McWalter, Kirsty, Deb, Wallid, Mor-Shaked, Hagar, Li, Hong, Schnur, Rhonda E., Wentzensen, Ingrid M., Denommé-Pichon, Anne-Sophie, Fourgeux, Cynthia, Verheijen, Frans W., Faurie, Eva, Schot, Rachel, Stevens, Cathy A., Smits, Daphne J., Barr, Eileen, Sheffer, Ruth, Bernstein, Jonathan A., Stimach, Chandler L., Kovitch, Eliana, Shashi, Vandana, Schoch, Kelly, Smith, Whitney, van Jaarsveld, Richard H., Hurst, Anna C.E., Smith, Kirstin, Baugh, Evan H., Bohm, Suzanne G., Vyhnálková, Emílie, Ryba, Lukáš, Delnatte, Capucine, Neira, Juanita, Bonneau, Dominique, Toutain, Annick, Rosenfeld, Jill A., Audebert-Bellanger, Séverine, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Laumonnier, Frédéric, Berger, Seth I., Smith, Ann C.M., Bourdeaut, Franck, Stern, Marc-Henri, Redon, Richard, Krüger, Elke, Margueron, Raphaël, Bézieau, Stéphane, Poschmann, Jeremie, Isidor, Bertrand

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