TRIT1 deficiency: Two novel patients with four novel variants by Smol, Thomas, Brunelle, Perrine, Caumes, Roseline, Boute-Benejean, Odile, Thuillier, Caroline, Figeac, Martin, Ait-Yahya, Emilie, Bonte, Fabrice, Mau-Them, Frederic Tran, Thauvin-Robinet, Christel, Faivre, Laurence, Roche-Lestienne, Catherine, Manouvrier-Hanu, Sylvie, Petit, Florence, Ghoumid, Jamal

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Integrated genome and transcriptome analyses solves about one third of the patients with rare developmental disorders and negative first-line molecular investigations by Vitobello, A., Mau-Them, F. T., Bruel, A. L., Duffourd, Y., Tisserant, E., Callier, P., Moutton, S., Nambot, S., Lehalle, D., Jean-Marcais, N., Delanne, J., Racine, C., Thevenon, J., Poe, C., Jouan, T., Chevarin, M., Willems, M., Coubes, C., Genevieve, D., Houcinat, N., Masurel-Paulet, A., Mosca-Boidron, A., Sorlin, A., Isidor, Bertrand, Heide, S., Afenjar, A., Rodriguez, D., Mignot, C., Heron, D., Vincent, M., Charles, P., Odent, S., Dubourg, C., Faudet, A., Keren, B., Cogné, Benjamin, Boland, Anne, Olaso, Robert, Philippe, C., Deleuze, Jean-François, Faivre, L., Thauvin-Robinet, C.

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Fast genome sequencing in less than 40 days for newborn patients in intensive care unit: a feasibility study allowing diagnosis in 56% of cases in a French hospital network by Denomme-Pichon, A., Vitobello, A., Olaso, Robert, Ziegler, A., Isidor, Bertrand, Jeanne, M., Racine, C., Mau-Them, F. T., Couturier, V., Poë, C., Jouan, T., Boland, Anne, Fin, Bertrand, Garde, A., Prost, A., Garret, P., Tisserant, E., Delanne, J., Gorce, M., Nizon, M., Vincent, M., Moutton, S., Nambot, S., Capri, Y., van Gils, J., Busa, T., Sigaudy, S., Fradin, M., Lavillaureix, A., Rollier, P., Pasquier, L., Barth, M., Bruel, A., Bonneau, D., Toutain, A., Philippe, C., Duffourd, Y., Callier, P., Deleuze, Jean-François, Faivre, L., Thauvin-Robinet, C., Sorlin, A.

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Phenotypic and genotypic description of 44 patients with variants in DLG4 encoding the post-synaptic density protein PSD-95 by Seuma, ARP, Boerrigter, M, Mandrile, G, Pelle, A, Giorgio, E, Lindstrand, A, Johansson, M, Kvarnung, M, Everman, D, Bahrambeigi, V, MacKenzie, A, Morton, J, Ruivenkamp, C, Challman, T, Hurst, A, Hoyer, J, Elmslie, F, Dye, T, Isidor, B, Haldeman-Englert, C, Gomez-Andres, D, Schluter, A, de Man, S, Shieh, J, Prada, C, Moutton, S, Denomme-Pichon, A, Motti, S, Bruel, A, Mau-Them, FT, Reiter, S, van Ravenswaaij-Arts, C, Shaw-Smith, C, Parikh, S, Aldinger, K, Lovgren, A, Rauch, A, Ross, M, Gomez-Puertas, P, de Vries, B, Pujol, A, Tumer, Z

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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies by Myers, Candace T., Cossette, Patrick, Lemay, Philippe, Spiegelman, Dan, Laporte, Alexandre Dionne, Nassif, Christina, Diallo, Ousmane, Monlong, Jean, Cadieux-Dion, Maxime, Dobrzeniecka, Sylvia, Meloche, Caroline, Retterer, Kyle, Cho, Megan T., Rosenfeld, Jill A., Bi, Weimin, Massicotte, Christine, Miguet, Marguerite, Brunga, Ledia, Regan, Brigid M., Mo, Kelly, Tam, Cory, Hollingsworth, Georgie, FitzPatrick, David R., Canham, Natalie, Blair, Edward, Kerr, Bronwyn, Fry, Andrew E., Thomas, Rhys H., Shelagh, Joss, Hurst, Jane A., Brittain, Helen, Blyth, Moira, Lebel, Robert Roger, Gerkes, Erica H., Davis-Keppen, Laura, Stein, Quinn, Dorison, Sara J., Benke, Paul J., Fassi, Emily, Corsten-Janssen, Nicole, Kamsteeg, Erik-Jan, Mau-Them, Frederic T., Bruel, Ange-Line, Verloes, Alain, Õunap, Katrin, Wojcik, Monica H., Albert, Dara V.F., Venkateswaran, Sunita, Ware, Tyson, Liu, Yu-Chi, Mohammad, Shekeeb S., Bizargity, Peyman, Bacino, Carlos A., Leuzzi, Vincenzo, Martinelli, Simone, Dallapiccola, Bruno, Tartaglia, Marco, Blumkin, Lubov, Wierenga, Klaas J., Purcarin, Gabriela, O’Byrne, James J., Stockler, Sylvia, Lehman, Anna, Keren, Boris, Nougues, Marie-Christine, Mignot, Cyril, Auvin, Stéphane, Nava, Caroline, Hiatt, Susan M., Bebin, Martina, Shao, Yunru, Scaglia, Fernando, Frye, Richard E., Jarjour, Imad T., Jacques, Stéphanie, Boucher, Renee-Myriam, Riou, Emilie, Srour, Myriam, Carmant, Lionel, Lortie, Anne, Major, Philippe, Diadori, Paola, Dubeau, François, D’Anjou, Guy, Bourque, Guillaume, Berkovic, Samuel F., Sadleir, Lynette G., Campeau, Philippe M., Kibar, Zoha, Lafrenière, Ronald G., Girard, Simon L., Mercimek-Mahmutoglu, Saadet, Boelman, Cyrus, Rouleau, Guy A., Scheffer, Ingrid E., Mefford, Heather C., Andrade, Danielle M., Rossignol, Elsa, Minassian, Berge A., Michaud, Jacques L.

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Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly by Bruel, A.‐L., Thevenon, J., Huet, F., Jean‐Marcais, N., Odent, S., Dubourg, C., Lehalle, D., Tran Mau‐Them, F., Philippe, C., Moutton, S., Houcinat, N., Gay, S., Guibaud, L., Duffourd, Y., Rivière, J.‐B., Faivre, L., Thauvin‐Robinet, C.

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Monitoring Resistance to Spinosad in the Melon Fly (Bactrocera cucurbitae) in Hawaii and Taiwan by Hsu, Ju-Chun, Haymer, David S., Chou, Ming-Yi, Feng, Hai-Tung, Chen, Hsaio-Han, Huang, Yu-Bing, Mau, Ronald F. L.

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Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features by Moutton, S., Bruel, A.‐L., Assoum, M., Chevarin, M., Sarrazin, E., Goizet, C., Guerrot, A.‐M., Charollais, A., Charles, P., Heron, D., Faudet, A., Houcinat, N., Vitobello, A., Tran‐Mau‐Them, F., Philippe, C., Duffourd, Y., Thauvin‐Robinet, C., Faivre, L.

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Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature by Delanne, J., Nambot, S., Chassagne, A., Putois, O., Pelissier, A., Peyron, C., Gautier, E., Thevenon, J., Cretin, E., Bruel, A.L., Goussot, V., Ghiringhelli, F., Boidot, R., Tran Mau-Them, F., Philippe, C., Vitobello, A., Demougeot, L., Vernin, C., Lapointe, A.S., Bardou, M., Luu, M., Binquet, C., Lejeune, C., Joly, L., Juif, C., Baurand, A., Sawka, C., Bertolone, G., Duffourd, Y., Sanlaville, D., Pujol, P., Geneviève, D., Houdayer, F., Thauvin-Robinet, C., Faivre, L.

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Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development by Ivanova, Ekaterina L., Mau-Them, Frédéric Tran, Riazuddin, Saima, Kahrizi, Kimia, Laugel, Vincent, Schaefer, Elise, de Saint Martin, Anne, Runge, Karen, Iqbal, Zafar, Spitz, Marie-Aude, Laura, Mary, Drouot, Nathalie, Gérard, Bénédicte, Deleuze, Jean-François, de Brouwer, Arjan P.M., Razzaq, Attia, Dollfus, Hélène, Assir, Muhammad Zaman, Nitchké, Patrick, Hinckelmann, Maria-Victoria, Ropers, Hilger, Riazuddin, Sheikh, Najmabadi, Hossein, van Bokhoven, Hans, Chelly, Jamel

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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis by Gueneau, Lucie, Fish, Richard J., Shamseldin, Hanan E., Voisin, Norine, Tran Mau-Them, Frédéric, Preiksaitiene, Egle, Monroe, Glen R., Lai, Angeline, Putoux, Audrey, Allias, Fabienne, Ambusaidi, Qamariya, Ambrozaityte, Laima, Cimbalistienė, Loreta, Delafontaine, Julien, Guex, Nicolas, Hashem, Mais, Kurdi, Wesam, Jamuar, Saumya Shekhar, Ying, Lim J., Bonnard, Carine, Pippucci, Tommaso, Pradervand, Sylvain, Roechert, Bernd, van Hasselt, Peter M., Wiederkehr, Michaël, Wright, Caroline F., Xenarios, Ioannis, van Haaften, Gijs, Shaw-Smith, Charles, Schindewolf, Erica M., Neerman-Arbez, Marguerite, Sanlaville, Damien, Lesca, Gaëtan, Guibaud, Laurent, Reversade, Bruno, Chelly, Jamel, Kučinskas, Vaidutis, Alkuraya, Fowzan S., Reymond, Alexandre

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Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly by Serey-Gaut, Margaux, Cortes, Marisol, Makrythanasis, Periklis, Suri, Mohnish, Taylor, Alexander M.R., Sullivan, Jennifer A., Asleh, Ayat N., Mitra, Jaba, Dar, Mohamad A., McNamara, Amy, Shashi, Vandana, Dugan, Sarah, Song, Xiaofei, Rosenfeld, Jill A., Cabrol, Christelle, Iwaszkiewicz, Justyna, Zoete, Vincent, Pehlivan, Davut, Akdemir, Zeynep Coban, Roeder, Elizabeth R., Littlejohn, Rebecca Okashah, Dibra, Harpreet K., Byrd, Philip J., Stewart, Grant S., Geckinli, Bilgen B., Posey, Jennifer, Westman, Rachel, Jungbluth, Chelsy, Eason, Jacqueline, Sachdev, Rani, Evans, Carey-Anne, Lemire, Gabrielle, VanNoy, Grace E., O’Donnell-Luria, Anne, Mau-Them, Frédéric Tran, Juven, Aurélien, Piard, Juliette, Nixon, Cheng Yee, Zhu, Ying, Ha, Taekjip, Buckley, Michael F., Thauvin, Christel, Essien Umanah, George K., Van Maldergem, Lionel, Lupski, James R., Roscioli, Tony, Dawson, Valina L., Dawson, Ted M., Antonarakis, Stylianos E.

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Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation by Guissart, C, Dubucs, C, Raynal, C, Girardet, A, Tran Mau Them, F, Debant, V, Rouzier, C, Boureau-Wirth, A, Haquet, E, Puechberty, J, Bieth, E, Dupin Deguine, D, Khau Van Kien, P, Brechard, M.P, Pritchard, V, Koenig, M, Claustres, M, Vincent, M.C

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Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish by Patterson, Victoria, Ullah, Farid, Bryant, Laura, Griffin, John N, Sidhu, Alpa, Saliganan, Sheila, Blaile, Mackenzie, Saenz, Margarita S, Smith, Rosemarie, Ellingwood, Sara, Grange, Dorothy K, Hu, Xuyun, Mireguli, Maimaiti, Luo, Yanfei, Shen, Yiping, Mulhern, Maureen, Zackai, Elaine, Ritter, Alyssa, Izumi, Kosaki, Hoefele, Julia, Wagner, Matias, Riedhammer, Korbinian M, Seitz, Barbara, Robin, Nathaniel H, Goodloe, Dana, Mignot, Cyril, Keren, Boris, Cox, Helen, Jarvis, Joanna, Hempel, Maja, Gibson, Cynthia Forster, Tran Mau-Them, Frederic, Vitobello, Antonio, Bruel, Ange-Line, Sorlin, Arthur, Mehta, Sarju, Raymond, F Lucy, Gilmore, Kelly, Powell, Bradford C, Weck, Karen, Li, Chumei, Vulto-van Silfhout, Anneke T, Giacomini, Thea, Mancardi, Maria Margherita, Accogli, Andrea, Salpietro, Vincenzo, Zara, Federico, Vora, Neeta L, Davis, Erica E, Burdine, Rebecca, Bhoj, Elizabeth

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OP10.09: Prenatal exome sequencing: a powerful tool to improve description of prenatal features related to genetic disorders by Bourgon, N., Them, F. Tran Mau, Bruel, A., Safraou, H., Denomme‐Pichon, A., Rousseau, T., Vitobello, A., Philippe, C., Binquet, C., Duffour, Y., Faivre, L., Thauvin, C.

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EP06.12: Prospective reanalysis of unsolved prenatal exome sequencing: diagnostic yield and contribution of postnatal/post‐mortem findings by Bourgon, N., Them, F. Tran Mau, Safraou, H., Bruel, A., Denomme‐Pichon, A., Vitobello, A., Binquet, C., Duffour, Y., Faivre, L., Thauvin, C.

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OC18.02: Exome sequencing during pregnancy for fetuses with unsolved multiple congenital abnormalities: a powerful tool to improve prenatal diagnosis by Bourgon, N., Lefebvre, M., Bruel, A., Them, F. Tran Mau, Garde, A., Moutton, S., Sorlin, A., Delanne, J., Vitobello, A., Thauvin, C.

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Identification of rare genetic variants in Juvenile Idiopathic Arthritis using whole exome sequencing by Sanchez, E, Grandemange, S, Mau-Them, F Tran, Louis-Plence, P, Carbasse, A, Jeziorski, E, Picot, M-C, Girard, M, Tran, TA, Isidor, B, Poignant, S, Tiriau, S, Pillet, P, Jurquet, A-L, Touitou, I, Geneviève, D

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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia by Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J H, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Dündar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Catala Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita

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Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases by Marcogliese, Paul C., Deal, Samantha L., Andrews, Jonathan, Harnish, J. Michael, Bhavana, V. Hemanjani, Graves, Hillary K., Jangam, Sharayu, Luo, Xi, Liu, Ning, Bei, Danqing, Chao, Yu-Hsin, Hull, Brooke, Lee, Pei-Tseng, Pan, Hongling, Bhadane, Pradnya, Huang, Mei-Chu, Longley, Colleen M., Chao, Hsiao-Tuan, Chung, Hyung-lok, Haelterman, Nele A., Kanca, Oguz, Manivannan, Sathiya N., Rossetti, Linda Z., German, Ryan J., Gerard, Amanda, Schwaibold, Eva Maria Christina, Fehr, Sarah, Guerrini, Renzo, Vetro, Annalisa, England, Eleina, Murali, Chaya N., Barakat, Tahsin Stefan, van Dooren, Marieke F., Wilke, Martina, van Slegtenhorst, Marjon, Lesca, Gaetan, Sabatier, Isabelle, Chatron, Nicolas, Brownstein, Catherine A., Madden, Jill A., Agrawal, Pankaj B., Keren, Boris, Courtin, Thomas, Perrin, Laurence, Brugger, Melanie, Roser, Timo, Leiz, Steffen, Mau-Them, Frederic Tran, Delanne, Julian, Sukarova-Angelovska, Elena, Trajkova, Slavica, Rosenhahn, Erik, Strehlow, Vincent, Platzer, Konrad, Keller, Roberto, Pavinato, Lisa, Brusco, Alfredo, Rosenfeld, Jill A., Marom, Ronit, Wangler, Michael F., Yamamoto, Shinya

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