A good screening test: benefits and limitations von Maya, I., Salzer Sheelo, L., Basel‐Salmon, L., Sagi‐Dain, L.

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Clinical utility of expanded non‐invasive prenatal screening compared with chromosomal microarray analysis in over 8000 pregnancies without major structural anomaly von Maya, I., Salzer Sheelo, L., Brabbing‐Goldstein, D., Matar, R., Kahana, S., Agmon‐Fishman, I., Klein, C., Gurevitch, M., Basel‐Salmon, L., Sagi‐Dain, L.

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Unique prenatal manifestations of biallelic NDUFAF5 variants: expansion of phenotype von Brabbing‐Goldstein, D., Kozlova, D., Bazak, L., Basel‐Salmon, L., Gilboa, Y., Marciano‐Levi, I., Zahra, J., Kanengisser‐Pines, B., Botvinik, A., Kurolap, A., Birnbaum, R., Yaron, Y.

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Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews von Weisz-Hubshman, M., Meirson, H., Michaelson-Cohen, R., Beeri, R., Tzur, S., Bormans, C., Modai, S., Shomron, N., Shilon, Y., Banne, E., Orenstein, N., Konen, O., Marek-Yagel, D., Veber, A., Shalva, N., Imagawa, E., Matsumoto, N., Lev, D., Lerman Sagie, T., Raas-Rothschild, A., Ben-Zeev, B., Basel-Salmon, L., Behar, D.M., Heimer, G.

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A novel founder MSH2 deletion in Ethiopian Jews is mainly associated with early-onset colorectal cancer von Kedar, I., Walsh, L., Levi, G. Reznick, Lieberman, S., Shtaya, A. Abu, Nathan, S. Naftaly, Lagovsky, I., Tomashov-Matar, R., Goldenberg, M., Basel-Salmon, L., Katz, L., Aleme, O., Peretz, T. Yablonski, Hubert, A., Rothstein, D., Castellvi-Bel, S., Walsh, T., King, M. C., Pritchard, C. C., Levi, Z., Half, E., Laish, I., Goldberg, Y.

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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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Reply von D Brabbing‐Goldstein, L Basel‐Salmon, Yaron, Y

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Reply von Brabbing‐Goldstein, D., Basel‐Salmon, L., Yaron, Y.

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Reply von Brabbing‐Goldstein, D., Basel‐Salmon, L., Yaron, Y.

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Reply von Brabbing-Goldstein, D, Basel-Salmon, L, Yaron, Y

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Reply von Brabbing-Goldstein, D, Basel-Salmon, L, Yaron, Y

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84P A rare homozygous CAPN3 variant with distinct clinical features in unrelated families of Iraqi Jewish descent von Aharoni, S., Batzir, N. Assia, Orenstein, N., Yaron, Y., Kuzminsky, A., Nevo, Y., Konen, O., Bazak, L., Lidzbarsky, G., Basel-Salmon, L.

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Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures von Tan, TY, Sedmik, J, Fitzgerald, MP, Halevy, RS, Keegan, LP, Helbig, I, Basel-Salmon, L, Cohen, L, Straussberg, R, Chung, WK, Helal, M, Maroofian, R, Houlden, H, Juusola, J, Sadedin, S, Pais, L, Howell, KB, White, SM, Christodoulou, J, O'Connell, MA

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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis von Mak, C.C.Y., Doherty, D., Lin, A.E., Vegas, N., Cho, M.T., Viot, G., Dimartino, C., Weisfeld-Adams, J.D., Lessel, D., Joss, S., Li, C.M., Gonzaga-Jauregui, C., Zarate, Y.A., Ehmke, N., Horn, D., Troyer, C., Kant, S.G., Lee, Y., Ishak, G.E., Leung, G., Pritchard, A.B., Yang, S., Bend, E.G., Filippini, F., Roadhouse, C., Lebrun, N., Mehaffey, M.G., Martin, P.M., Apple, B., Millan, F., Puk, O., Hoffer, M.J.V., Henderson, L.B., McGowan, R., Wentzensen, I.M., Pei, S., Zahir, F.R., Yu, M.L., Gibson, W.T., Seman, A., Steeves, M., Murrell, J.R., Luettgen, S., Francisco, E., Strom, T.M., Amlie-Wolf, L., Kaindl, A.M., Wilson, W.G., Halbach, S., Basel-Salmon, L., Lev-El, N., Denecke, J., Vissers, L.E.L.M., Radtke, K., Chelly, J., Zackai, E., Friedman, J.M., Bamshad, M.J., Nickerson, D.A., Reid, R.R., Devriendt, K., Chae, J.H., Stolerman, E., McDougall, C., Powis, Z., Bienvenu, T., Tan, T.Y., Orenstein, N., Dobyns, W.B., Shieh, J.T., Choi, M., Waggoner, D., Gripp, K.W., Parker, M.J., Stoler, J., Lyonnet, S., Cormier-Daire, V., Viskochil, D., Hoffman, T.L., Amiel, J., Chung, B.H.Y., Gordon, C.T.

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GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment von Zanetti, Andrea, Dujardin, Gwendal, Fares-Taie, Lucas, Amiel, Jeanne, Roger, Jérôme E., Audo, Isabelle, Robert, Matthieu P., David, Pierre, Jung, Vincent, Goudin, Nicolas, Guerrera, Ida Chiara, Moriceau, Stéphanie, Amana, Danielle, Assia Batzir, Nurit, Bachar-Zipori, Anat, Basel Salmon, Lina, Boddaert, Nathalie, Briault, Sylvain, Bruel, Ange-Line, Costet-Fighiera, Christine, Coutinho Santos, Luisa, Gitiaux, Cyril, Kaminska, Karolina, Kuentz, Paul, Orenstein, Naama, Philip-Sarles, Nicole, Plutino, Morgane, Quinodoz, Mathieu, Santos, Cristina, Sigaudy, Sabine, Soeiro e Sá, Mariana, Sofrin, Efrat, Sousa, Ana Berta, Sousa-Luis, Rui, Thauvin-Robinet, Christel, van Dijk, Erwin L., Zaafrane-Khachnaoui, Khaoula, Zur, Dinah, Kaplan, Josseline, Rivolta, Carlo, Rozet, Jean-Michel, Perrault, Isabelle

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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms von Kaur, Maninder, Blair, Justin, Devkota, Batsal, Fortunato, Sierra, Clark, Dinah, Lawrence, Audrey, Kim, Jiwoo, Do, Wonwook, Semeo, Benjamin, Katz, Olivia, Mehta, Devanshi, Yamamoto, Nobuko, Schindler, Emma, Al Rawi, Zayd, Wallace, Nina, Wilde, Jonathan J., McCallum, Jennifer, Liu, Jinglan, Xu, Dongbin, Jackson, Marie, Rentas, Stefan, Tayoun, Ahmad Abou, Zhe, Zhang, Abdul‐Rahman, Omar, Allen, Bill, Angula, Moris A., Anyane‐Yeboa, Kwame, Argente, Jesús, Arn, Pamela H., Armstrong, Linlea, Basel‐Salmon, Lina, Baynam, Gareth, Bird, Lynne M., Bruegger, Daniel, Ch'ng, Gaik‐Siew, Chitayat, David, Clark, Robin, Cox, Gerald F., Dave, Usha, DeBaere, Elfrede, Field, Michael, Graham Jr, John M., Gripp, Karen W., Greenstein, Robert, Gupta, Neerja, Heidenreich, Randy, Hoffman, Jodi, Hopkin, Robert J., Jones, Kenneth L., Jones, Marilyn C., Kariminejad, Ariana, Kogan, Jillene, Lace, Baiba, Leroy, Julian, Lynch, Sally Ann, McDonald, Marie, Meagher, Kirsten, Mendelsohn, Nancy, Micule, Ieva, Moeschler, John, Nampoothiri, Sheela, Ohashi, Kaoru, Powell, Cynthia M., Ramanathan, Subhadra, Raskin, Salmo, Roeder, Elizabeth, Rio, Marlene, Rope, Alan F., Sangha, Karan, Scheuerle, Angela E., Schneider, Adele, Shalev, Stavit, Siu, Victoria, Smith, Rosemarie, Stevens, Cathy, Tkemaladze, Tinatin, Toimie, John, Toriello, Helga, Turner, Anne, Wheeler, Patricia G., White, Susan M., Young, Terri, Loomes, Kathleen M., Pipan, Mary, Harrington, Ann Tokay, Zackai, Elaine, Rajagopalan, Ramakrishnan, Conlin, Laura, Deardorff, Matthew A., McEldrew, Deborah, Pie, Juan, Ramos, Feliciano, Musio, Antonio, Kline, Antonie D., Izumi, Kosuke, Raible, Sarah E., Krantz, Ian D.

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Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability von Li, Lin, Ghorbani, Mohammad, Weisz-Hubshman, Monika, Rousseau, Justine, Thiffault, Isabelle, Schnur, Rhonda E, Breen, Catherine, Oegema, Renske, Weiss, Marjan Mm, Waisfisz, Quinten, Welner, Sara, Kingston, Helen, Hills, Jordan A, Boon, Elles Mj, Basel-Salmon, Lina, Konen, Osnat, Goldberg-Stern, Hadassa, Bazak, Lily, Tzur, Shay, Jin, Jianliang, Bi, Xiuli, Bruccoleri, Michael, McWalter, Kirsty, Cho, Megan T, Scarano, Maria, Schaefer, G Bradley, Brooks, Susan S, Hughes, Susan Starling, van Gassen, K L I, van Hagen, Johanna M, Pandita, Tej K, Agrawal, Pankaj B, Campeau, Philippe M, Yang, Xiang-Jiao

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Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals von Truty, Rebecca, Rojahn, Susan, Ouyang, Karen, Kautzer, Curtis, Kennemer, Michael, Pineda-Alvarez, Daniel, Johnson, Britt, Stafford, Amanda, Basel-Salmon, Lina, Saitta, Sulagna, Slavotinek, Anne, Chandrasekharappa, Settara C., Suarez, Carlos Jose, Burnett, Leslie, Nussbaum, Robert L., Aradhya, Swaroop

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Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel von Shen, Jun, Oza, Andrea M., del Castillo, Ignacio, Duzkale, Hatice, Matsunaga, Tatsuo, Pandya, Arti, Kang, Hyunseok P., Mar-Heyming, Rebecca, Guha, Saurav, Moyer, Krista, Lo, Christine, Kenna, Margaret, Alexander, John J., Zhang, Yan, Hirsch, Yoel, Luo, Minjie, Cao, Ye, Wai Choy, Kwong, Cheng, Yen-Fu, Avraham, Karen B., Hu, Xinhua, Garrido, Gema, Moreno-Pelayo, Miguel A., Greinwald, John, Zhang, Kejian, Zeng, Yukun, Brownstein, Zippora, Basel-Salmon, Lina, Davidov, Bella, Frydman, Moshe, Weiden, Tzvi, Nagan, Narasimhan, Willis, Alecia, Hemphill, Sarah E., Grant, Andrew R., Siegert, Rebecca K., DiStefano, Marina T., Amr, Sami S., Rehm, Heidi L., Abou Tayoun, Ahmad N.

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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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