Expanding the phenotype of Wiedemann‐Steiner syndrome: Craniovertebral junction anomalies by Giangiobbe, Sara, Caraffi, Stefano Giuseppe, Ivanovski, Ivan, Maini, Ilenia, Pollazzon, Marzia, Rosato, Simonetta, Trimarchi, Gabriele, Lauriello, Anna, Marinelli, Maria, Nicoli, Davide, Baldo, Chiara, Laurie, Steven, Flores‐Daboub, Josue, Provenzano, Aldesia, Andreucci, Elena, Peluso, Francesca, Rizzo, Renata, Stewart, Helen, Lachlan, Katherine, Bayat, Allan, Napoli, Manuela, Carboni, Giorgia, Baker, Janice, Mendel, Alyssa, Piatelli, Gianluca, Pantaleoni, Chiara, Mattina, Teresa, Prontera, Paolo, Mendelsohn, Nancy J., Giglio, Sabrina, Zuffardi, Orsetta, Garavelli, Livia

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Parkes Weber syndrome associated with two somatic pathogenic variants in RASA1 by Flores Daboub, Josue A., Grimmer, Johanes Fred, Frigerio, Alice, Wooderchak-Donahue, Whitney, Arnold, Ryan, Szymanski, Jeff, Longo, Nicola, Bayrak-Toydemir, Pinar

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Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders by Szot, Justin O., Campagnolo, Carla, Cao, Ye, Iyer, Kavitha R., Cuny, Hartmut, Drysdale, Thomas, Flores-Daboub, Josue A., Bi, Weimin, Westerfield, Lauren, Liu, Pengfei, Leung, Tse Ngong, Choy, Kwong Wai, Chapman, Gavin, Xiao, Rui, Siu, Victoria M., Dunwoodie, Sally L.

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P166: MEK inhibitor therapy for lymphatic malformations: A focused approach in patients with RASopathies by Taliercio, Vanina, Selvam, Pavalan, Akay, Gulsen, Cole, Stacey, Flores-Daboub, Josue, Viskochil, David

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New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome by Chater-Diehl, Eric, Ejaz, Resham, Cytrynbaum, Cheryl, Siu, Michelle T, Turinsky, Andrei, Choufani, Sanaa, Goodman, Sarah J, Abdul-Rahman, Omar, Bedford, Melanie, Dorrani, Naghmeh, Engleman, Kendra, Flores-Daboub, Josue, Genevieve, David, Mendoza-Londono, Roberto, Meschino, Wendy, Perrin, Laurence, Safina, Nicole, Townshend, Sharron, Scherer, Stephen W, Anagnostou, Evdokia, Piton, Amelie, Deardorff, Matthew, Brudno, Michael, Chitayat, David, Weksberg, Rosanna

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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome by Sheppard, Sarah E., Campbell, Ian M., Harr, Margaret H., Gold, Nina, Li, Dong, Bjornsson, Hans T., Cohen, Julie S., Fahrner, Jill A., Fatemi, Ali, Harris, Jacqueline R., Nowak, Catherine, Stevens, Cathy A., Grand, Katheryn, Au, Margaret, Graham, John M., Sanchez‐Lara, Pedro A., Campo, Miguel Del, Jones, Marilyn C., Abdul‐Rahman, Omar, Bassetti, Jennifer A., Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie D., Derar, Nada, Gripp, Karen W., Hauser, Natalie, Innes, A. Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata J., Rahbeeni, Zuhair, Ben‐Shachar, Shay, Shieh, Joseph T., Slavotinek, Anne, Sobering, Andrew K., Abbott, Mary‐Alice, Allain, Dawn C., Amlie‐Wolf, Louise, Au, Ping Yee Billie, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan A., Cytrynbaum, Cheryl, Chung, Brian Hon‐Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores‐Daboub, Josue A., Dubbs, Holly, Felix, Carolyn A., Fong, Chin‐To, Fung, Jasmine Lee Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa K., Hersh, Joseph, Izumi, Kosuke, Kravets, Elijah, Kwok, Pui‐Yan, Jobling, Rebekah K., Knight Johnson, Amy E., Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D. Ross, Mentch, Frank D., Minks, Kelly, Muraresku, Colleen, Nelson, Stanley F., Porazzi, Patrizia, Pichurin, Pavel N., Powell‐Hamilton, Nina N., Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Falk, Marni J., Hakonarson, Hakon, Zackai, Elaine H., Quintero‐Rivera, Fabiola

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A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies by Geilmann, Shelby, Solstad, Rachel, Palmquist, Rachel, Flores Daboub, Josue, Botto, Lorenzo D., Grubb, Peter H., Bonkowsky, Josh L., Longo, Nicola, Malone Jenkins, Sabrina

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Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics by Palmquist, Rachel, Jenkins, Sabrina Malone, Bentley, Dawn, Miller, Christine, Mao, Rong, Meibos, Bailey, Bayrak-Toydemir, Pinar, Tvrdik, Tatiana, Nadauld, Lincoln D., Bleyl, Steven B., Chowdhury, Shimul, Ostrander, Betsy, Flores-Daboub, Josue, Longo, Nicola, Tristani-Firouzi, Martin, Hobbs, Charlotte, Bonkowsky, Joshua L., Brunelli, Luca

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WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome by White, Janson J., Mazzeu, Juliana F., Coban-Akdemir, Zeynep, Bayram, Yavuz, Bahrambeigi, Vahid, Hoischen, Alexander, van Bon, Bregje W.M., Gezdirici, Alper, Gulec, Elif Yilmaz, Ramond, Francis, Touraine, Renaud, Thevenon, Julien, Shinawi, Marwan, Beaver, Erin, Heeley, Jennifer, Hoover-Fong, Julie, Durmaz, Ceren D., Karabulut, Halil Gurhan, Marzioglu-Ozdemir, Ebru, Cayir, Atilla, Duz, Mehmet B., Seven, Mehmet, Price, Susan, Ferreira, Barbara Merfort, Vianna-Morgante, Angela M., Ellard, Sian, Parrish, Andrew, Stals, Karen, Flores-Daboub, Josue, Jhangiani, Shalini N., Gibbs, Richard A., Brunner, Han G., Sutton, V. Reid, Lupski, James R., Carvalho, Claudia M.B.

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Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition by Zerella, Jiarna R., Homan, Claire C., Arts, Peer, Lin, Xuzhu, Spinelli, Sam J., Venugopal, Parvathy, Babic, Milena, Brautigan, Peter J., Truong, Lynda, Arriola-Martinez, Luis, Moore, Sarah, Hollins, Rachel, Parker, Wendy T., Nguyen, Hung, Kassahn, Karin S., Branford, Susan, Feurstein, Simone, Larcher, Lise, Sicre de Fontbrune, Flore, Demirdas, Serwet, de Munnik, Sonja, Antoine-Poirel, Hélène, Brichard, Benedicte, Mansour, Sahar, Gordon, Kristiana, Baliakas, Panagiotis, Blombery, Piers, Fox, Lucy C., Donadieu, Jean, Rio-Machin, Ana, Steinberg-Shemer, Orna, Morgan, Neil V., Ngeow, Joanne Y. Y., Skokowa, Julia, Pinese, Mark, Cowley, Mark J., Wlodarski, Marcin W., Koppayi, Ashwin, Dobbins, Sara, Mutsaers, Pim G. N. J., Nichols, Kim E., Oak, Ninad, DeMille, Desiree, Mao, Rong, Crawford, Ali, McCarrier, Julie, Basel, Donald, Flores-Daboub, Josue, Drazer, Michael W., Phillips, Kerry, Poplawski, Nicola K., Birdsey, Graeme M., Pirri, Daniela, Ostergaard, Pia, Simons, Annet, Godley, Lucy A., Ross, David M., Hiwase, Devendra K., Soulier, Jean, Brown, Anna L., Carmichael, Catherine L., Scott, Hamish S., Hahn, Christopher N.

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ERG Is a New Predisposition Gene for Bone Marrow Failure and Hematological Malignancy by Scott, Hamish S, Zerella, Jiarna, Homan, Claire, Arts, Peer, Lin, Steve, Spinelli, Sam J, Babic, Milena, Brautigan, Peter J, Truong, Lynda, Arriola-Martinez, Luis, Venugopal, Parvathy, Feurstein, Simone K, Larcher, Lise, Sicre De Fontbrune, Flore, Demirdas, Serwet, De Munnik, Sonja, Poirel, Hélène, Brichard, Benedicte, Dobbins, Sara, Mutsaers, Pim, DeMille, Desiree S, Flores-Daboub, Josue, Drazer, Michael W, Crawford, Alison, McCarrier, Julie, Basel, Donald G, Phillips, Kerry, Poplawski, Nicola K, Birdsey, Graeme, Pirri, Daniela, Ostergaard, Pia, Simons, Annet, Godley, Lucy, Ross, David M., Hiwase, Devendra, Soulier, Jean, Brown, Anna, Carmichael, Catherine, Hahn, Christopher N.

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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome by Sheppard, Sarah, Campbell, Ian, Harr, Margaret, Gold, Nina, Li, Dong, Bjornsson, Hans, Cohen, Julie, Fahrner, Jill, Fatemi, Ali, Harris, Jacqueline, Nowak, Catherine, Stevens, Cathy, Grand, Katheryn, Au, Margaret, Graham, John, Sanchez-Lara, Pedro, Del Campo, Miguel, Jones, Marilyn, Abdul-Rahman, Omar, Alkuraya, Fowzan, Bassetti, Jennifer, Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie, Derar, Nada, Gripp, Karen W., Hauser, Natalie, Innes, Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata, Rahbeeni, Zuhair, Ben-Shachar, Shay, Shieh, Joseph, Slavotinek, Anne, Sobering, Andrew, Abbott, Mary-Alice, Allain, Dawn, Amlie-Wolf, Louise, Billie Au, Ping Yee, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan, Cytrynbaum, Cheryl, Chung, Brian Hon-Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores-Daboub, Josue, Dubbs, Holly, Felix, Carolyn, Fong, Chin-To, Fung, Jasmine Lee-Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa, Hersh, Joseph, Izumi, Kosuke, Kallish, Staci, Kravets, Elijah, Kwok, Pui-Yan, Jobling, Rebekah, Knight-Johnson, Amy, Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D. Ross, Mentch, Frank, Minks, Kelly, Muraresku, Colleen, Nelson, Stanley, Porazzi, Patrizia, Pichurin, Pavel, Powell-Hamilton, Nina, Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Zand, Dina, Falk, Marni

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eP291 - Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome by Campbell, Ian, Harr, Margaret, Gold, Nina, Li, Dong, Bjornsson, Hans, Cohen, Julie, Fahrner, Jill, Fatemi, Ali, Harris, Jacqueline, Nowak, Catherine, Stevens, Cathy, Grand, Katheryn, Au, Margaret, Graham, John, Sanchez-Lara, Pedro, Del Campo, Miguel, Jones, Marilyn, Abdul-Rahman, Omar, Alkuraya, Fowzan, Bassetti, Jennifer, Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie, Derar, Nada, Gripp, Karen W., Hauser, Natalie, Innes, Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata, Rahbeeni, Zuhair, Ben-Shachar, Shay, Shieh, Joseph, Slavotinek, Anne, Sobering, Andrew, Abbott, Mary-Alice, Allain, Dawn, Amlie-Wolf, Louise, Billie Au, Ping Yee, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan, Cytrynbaum, Cheryl, Chung, Brian Hon-Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores-Daboub, Josue, Dubbs, Holly, Felix, Carolyn, Fong, Chin-To, Fung, Jasmine Lee-Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa, Hersh, Joseph, Izumi, Kosuke, Kallish, Staci, Kwok, Pui-Yan, Jobling, Rebekah, Knight-Johnson, Amy, Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D. Ross, Mentch, Frank, Minks, Kelly, Muraresku, Colleen, Nelson, Stanley, Porazzi, Patrizia, Pichurin, Pavel, Powell-Hamilton, Nina, Powis, Zoe, Ritter, Alyssa, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Zand, Dina, Falk, Marni, Hakonarson, Hakon, Zackai, Elaine, Quintero-Rivera, Fabiola

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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles by Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Hurst, Anna C.E., Kaiser, Frank J., Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Persani, Luca, Simpson, Brittany N., Angius, Andrea, Bedoukian, Emma, Bhambhani, Vikas, Bodamer, Olaf, O’Brien, Alan, Crisponi, Laura, Cueto González, Anna María, the DDD study, Devriendt, Koenraad, van Eerde, Albertien, van den Elzen, Annette P.M., Faivre, Laurence, Fisher, Laura, Flores-Daboub, Josue A., Foster, Alison, Friedman, Jennifer, Gabau, Elisabeth, Galazzi, Elena, García-Miñaúr, Sixto, Garavelli, Livia, Gardeitchik, Thatjana, Gerkes, Erica H., van Gils, Julien, Garcia, Aixa Gonzalez, Heimdal, Ketil Riddervold, Houge, Gunnar, Hufnagel, Sophia B., Ilencikova, Denisa, Julia, Sophie, Kant, Sarina G., Klee, Eric W., Kovačević, Maja, Lachmeijer, A.M.A. (Guus), Lanpher, Brendan, Lebrun, Marine, Leon, Eyby, Lichty, Angie Ward, Lin, Ruth, Llano-Rivas, Isabel, Lynch, Sally Ann, Maas, Saskia M., Maitz, Silvia B., McKee, Shane, Melis, Daniela, Merati, Elisabetta, Merla, Giuseppe, Newbury-Ecob, Ruth, Park, Soo-Mi, Patterson, Jennifer, Peeters, Hilde, Persico, Ivana, Pes, Valentina, Pollazzon, Marzia, Potjer, Thomas, Potocki, Lorraine, Pottinger, Carrie, Prasad, Chitra, Prijoles, Eloise J., Ragge, Nicola K., Rea, Gillian, Ruivenkamp, Claudia, Rutz, Audrey, Russo, Rossana Sanchez, Santen, Gijs W.E., Schaefer, Elise, Shashi, Vandana, Sluga, Andrea, Sotgiu, Stefano, Steichen-Gersdorf, Elisabeth, Sullivan, Jennifer A., Sun, Yu, Suri, Mohnish, Tedder, Matt, Terhal, Paulien, Tully, Ian, White, Susan M., Xiao, Bing, Robertson, Stephen P., Sadikovic, Bekim, Menke, Leonie A.

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