Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies von Lowther, Chelsea, Valkanas, Elise, Giordano, Jessica L., Wang, Harold Z., Currall, Benjamin B., O’Keefe, Kathryn, Pierce-Hoffman, Emma, Kurtas, Nehir E., Whelan, Christopher W., Hao, Stephanie P., Weisburd, Ben, Jalili, Vahid, Fu, Jack, Wong, Isaac, Collins, Ryan L., Zhao, Xuefang, Austin-Tse, Christina A., Evangelista, Emily, Lemire, Gabrielle, Aggarwal, Vimla S., Lucente, Diane, Gauthier, Laura D., Tolonen, Charlotte, Sahakian, Nareh, Stevens, Christine, An, Joon-Yong, Dong, Shan, Norton, Mary E., MacKenzie, Tippi C., Devlin, Bernie, Gilmore, Kelly, Powell, Bradford C., Brandt, Alicia, Vetrini, Francesco, DiVito, Michelle, Sanders, Stephan J., MacArthur, Daniel G., Hodge, Jennelle C., O'Donnell-Luria, Anne, Rehm, Heidi L., Vora, Neeta L., Levy, Brynn, Brand, Harrison, Wapner, Ronald J., Talkowski, Michael E.

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Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes von Provenzano, Aldesia, La Barbera, Andrea, Scagnet, Mirko, Pagliazzi, Angelica, Traficante, Giovanna, Pantaleo, Marilena, Tiberi, Lucia, Vergani, Debora, Kurtas, Nehir Edibe, Guarducci, Silvia, Bargiacchi, Sara, Forzano, Giulia, Artuso, Rosangela, Palazzo, Viviana, Kura, Ada, Giordano, Flavio, di Feo, Daniele, Mortilla, Marzia, De Filippi, Claudio, Mattei, Gianluca, Garavelli, Livia, Giusti, Betti, Genitori, Lorenzo, Zuffardi, Orsetta, Giglio, Sabrina

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Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes von Schöpflin, Robert, Melo, Uirá Souto, Moeinzadeh, Hossein, Heller, David, Laupert, Verena, Hertzberg, Jakob, Holtgrewe, Manuel, Alavi, Nico, Klever, Marius-Konstantin, Jungnitsch, Julius, Comak, Emel, Türkmen, Seval, Horn, Denise, Duffourd, Yannis, Faivre, Laurence, Callier, Patrick, Sanlaville, Damien, Zuffardi, Orsetta, Tenconi, Romano, Kurtas, Nehir Edibe, Giglio, Sabrina, Prager, Bettina, Latos-Bielenska, Anna, Vogel, Ida, Bugge, Merete, Tommerup, Niels, Spielmann, Malte, Vitobello, Antonio, Kalscheuer, Vera M., Vingron, Martin, Mundlos, Stefan

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Small supernumerary marker chromosomes: A legacy of trisomy rescue? von Kurtas, Nehir Edibe, Xumerle, Luciano, Leonardelli, Lorena, Delledonne, Massimo, Brusco, Alfredo, Chrzanowska, Krystyna, Schinzel, Albert, Larizza, Daniela, Guerneri, Silvana, Natacci, Federica, Bonaglia, Maria Clara, Reho, Paolo, Manolakos, Emmanouil, Mattina, Teresa, Soli, Fiorenza, Provenzano, Aldesia, Al‐Rikabi, Ahmed H., Errichiello, Edoardo, Nazaryan‐Petersen, Lusine, Giglio, Sabrina, Tommerup, Niels, Liehr, Thomas, Zuffardi, Orsetta

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O11: An atlas of 1.2M structural variants across global populations in the Genome Aggregation Database (gnomAD) von Brand, Harrison, Zhao, Xuefang, Fu, Jack, Collins, Ryan, Wong, Isaac, Liao, Cal, Wang, Lily, Baxter, Samantha, Solomonson, Matthew, Darnowsky, Philip, Chapman, Sinéad, Stevens, Christine, Cusick, Caroline, Sanchis-Juan, Alba, Walker, Mark, Kurtas, Nehir, Chao, Katherine, Gabriel, Stacey, Banks, Eric, O’Donnell-Luria, Anne, MacArthur, Daniel, Rehm, Heidi, Neale, Benjamin, Daly, Mark, Samocha, Kaitlin, Karczewski, Konrad, Talkowski, Michael

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De novo unbalanced translocations have a complex history/aetiology von Bonaglia, Maria Clara, Kurtas, Nehir Edibe, Errichiello, Edoardo, Bertuzzo, Sara, Beri, Silvana, Mehrjouy, Mana M., Provenzano, Aldesia, Vergani, Debora, Pecile, Vanna, Novara, Francesca, Reho, Paolo, Di Giacomo, Marilena Carmela, Discepoli, Giancarlo, Giorda, Roberto, Aldred, Micheala A., Santos-Rebouças, Cíntia Barros, Goncalves, Andressa Pereira, Abuelo, Diane N., Giglio, Sabrina, Ricca, Ivana, Franchi, Fabrizia, Patsalis, Philippos, Sismani, Carolina, Morí, María Angeles, Nevado, Julián, Tommerup, Niels, Zuffardi, Orsetta

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A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies von van de Putte, Romy, Dworschak, Gabriel C., Brosens, Erwin, Reutter, Heiko M., Marcelis, Carlo L. M., Acuna-Hidalgo, Rocio, Kurtas, Nehir E., Steehouwer, Marloes, Dunwoodie, Sally L., Schmiedeke, Eberhard, Märzheuser, Stefanie, Schwarzer, Nicole, Brooks, Alice S., de Klein, Annelies, Sloots, Cornelius E. J., Tibboel, Dick, Brisighelli, Giulia, Morandi, Anna, Bedeschi, Maria F., Bates, Michael D., Levitt, Marc A., Peña, Alberto, de Blaauw, Ivo, Roeleveld, Nel, Brunner, Han G., van Rooij, Iris A. L. M., Hoischen, Alexander

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Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception? von Kurtas, Nehir Edibe, Xumerle, Luciano, Giussani, Ursula, Pansa, Alessandra, Cardarelli, Laura, Bertini, Veronica, Valetto, Angelo, Liehr, Thomas, Clara Bonaglia, Maria, Errichiello, Edoardo, Delledonne, Massimo, Zuffardi, Orsetta

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SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant von Errichiello, Edoardo, Gorgone, Cristina, Giuliano, Loretta, Iadarola, Barbara, Cosentino, Emanuela, Rossato, Marzia, Kurtas, Nehir Edibe, Delledonne, Massimo, Mattina, Teresa, Zuffardi, Orsetta

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Small supernumerary marker chromosomes: A legacy of trisomy rescue? von Kurtas, Nehir Edibe, Xumerle, Luciano, Leonardelli, Lorena, Delledonne, Massimo, Brusco, Alfredo, Chrzanowska, Krystyna, Schinzel, Albert, Larizza, Daniela, Guerneri, Silvana, Natacci, Federica, Bonaglia, Maria Clara, Reho, Paolo, Manolakos, Emmanouil, Mattina, Teresa, Soli, Fiorenza, Provenzano, Aldesia, Al-Rikabi, Ahmed H, Errichiello, Edoardo, Nazaryan-Petersen, Lusine, Giglio, Sabrina, Tommerup, Niels, Liehr, Thomas, Zuffardi, Orsetta

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Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception? von Kurtas, Nehir Edibe, Xumerle, Luciano, Giussani, Ursula, Pansa, Alessandra, Cardarelli, Laura, Bertini, Veronica, Valetto, Angelo, Liehr, Thomas, Clara Bonaglia, Maria, Errichiello, Edoardo, Delledonne, Massimo, Zuffardi, Orsetta

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A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus von Pellerin, David, Del Gobbo, Giulia F., Couse, Madeline, Dolzhenko, Egor, Nageshwaran, Sathiji K., Cheung, Warren A., Xu, Isaac R. L., Dicaire, Marie-Josée, Spurdens, Guinevere, Matos-Rodrigues, Gabriel, Stevanovski, Igor, Scriba, Carolin K., Rebelo, Adriana, Roth, Virginie, Wandzel, Marion, Bonnet, Céline, Ashton, Catherine, Agarwal, Aman, Peter, Cyril, Hasson, Dan, Tsankova, Nadejda M., Dewar, Ken, Lamont, Phillipa J., Laing, Nigel G., Renaud, Mathilde, Houlden, Henry, Synofzik, Matthis, Usdin, Karen, Nussenzweig, Andre, Napierala, Marek, Chen, Zhao, Jiang, Hong, Deveson, Ira W., Ravenscroft, Gianina, Akbarian, Schahram, Eberle, Michael A., Boycott, Kym M., Pastinen, Tomi, Brais, Bernard, Zuchner, Stephan, Danzi, Matt C.

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Data from: Polymorphic tandem repeats shape single-cell gene expression across the immune landscape von Tanudisastro, Hope, Cuomo, Anna, Weisburd, Ben, Welland, Matthew, Spenceley, Eleanor, Franklin, Michael, Xue, Angli, Bowen, Blake, Wing, Kristof, Tang, Owen, Gray, Michael, Reis, Andre, Margoliash, Jonathan, Kurtas, Edibe Nehir, Pullin, Jeffrey, Lee, Arthur S., Brand, Harrison, Harper, Michael, Bobowik, Katalina, Silk, Michael, Marshall, John, Bakiris, Vivian, Swapna Madala, Bindu, Uren, Caitlin, Bartie, Caitlin, Senabouth, Anne, Dashnow, Harriet, Fearnley, Liam, Dolzhenko, Egor, Qiao, Zhen, Grieve, Stuart, Nguyen, Tung, Talkowski, Michael, Alexander, Stephen I., Siggs, Owen M., Gruenschloss, Leonhard, Nicholas, Hannah R., Piscionere, Jennifer, Simons, Cas, Wallace, Chris, Gymrek, Melissa, Deveson, Ira W., Hewitt, Alex W., Figtree, Gemma A., de Lange, Katrina M., Powell, Joseph E., MacArthur, Daniel G.

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