Inherited intragenic PBX1 deletion: Expanding the phenotype von Fitzgerald, Kristi K., Powell‐Hamilton, Nina, Shillingford, Amanda J., Robinson, Bradley, Gripp, Karen W.

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A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair von Gripp, Karen W., Aldinger, Kimberly A., Bennett, James T., Baker, Laura, Tusi, Jessica, Powell-Hamilton, Nina, Stabley, Deborah, Sol-Church, Katia, Timms, Andrew E., Dobyns, William B.

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P416: The conundrum of cardiovascular imaging and genetic testing in the context of nonspecific connective tissue findings von Powell-Hamilton, Nina, Kois, Chelsea, Nees, Shannon

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Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure von Mulchandani, Surabhi, Bhoj, Elizabeth J., Luo, Minjie, Powell-Hamilton, Nina, Jenny, Kim, Gripp, Karen W., Elbracht, Miriam, Eggermann, Thomas, Turner, Claire L.S., Temple, I. Karen, Mackay, Deborah J.G., Dubbs, Holly, Stevenson, David A., Slattery, Leah, Zackai, Elaine H., Spinner, Nancy B., Krantz, Ian D., Conlin, Laura K.

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A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations von Palmer, Elizabeth E., Kumar, Raman, Gordon, Christopher T., Shaw, Marie, Hubert, Laurence, Carroll, Renee, Rio, Marlène, Murray, Lucinda, Leffler, Melanie, Dudding-Byth, Tracy, Oufadem, Myriam, Lalani, Seema R., Lewis, Andrea M., Xia, Fan, Tam, Allison, Webster, Richard, Brammah, Susan, Filippini, Francesca, Pollard, John, Spies, Judy, Minoche, Andre E., Cowley, Mark J., Risen, Sarah, Powell-Hamilton, Nina N., Tusi, Jessica E., Immken, LaDonna, Nagakura, Honey, Bole-Feysot, Christine, Nitschké, Patrick, Garrigue, Alexandrine, de Saint Basile, Geneviève, Kivuva, Emma, Scott, Richard H., Rendon, Augusto, Munnich, Arnold, Newman, William, Kerr, Bronwyn, Besmond, Claude, Rosenfeld, Jill A., Amiel, Jeanne, Field, Michael, Gecz, Jozef

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P343: Distinctive facial features, cleft palate, talipes equinovarus, genital anomalies and 2,3 toe syndactyly in individuals with prenatal opiate exposure von Wadman, Erin, Fernandes, Erica, Powell-Hamilton, Nina, Muss, Candace, Alves, Carolina, Gripp, Karen W.

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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome von 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 syndrome associated with prenatal fentanyl exposure von Wadman, Erin, Fernandes, Erica, Muss, Candace, Powell-Hamilton, Nina, Wojcik, Monica H., Madden, Jill A., Carreon, Chrystalle Katte, Clark, Robin D., Stenftenagel, Annie, Chikalard, Kamal, Kimonis, Virginia, Brucker, William, Alves, Carolina, Gripp, Karen W.

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eP216: An unexpected diagnosis of RIDDLE syndrome and possible TUBGCP6-related disorder amidst controversial parental consanguinity von Powell-Hamilton, Nina

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eP302 - MAPRE2-related disorder: expanding the neurodevelopmental phenotype von Powell-Hamilton, Nina N.

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MAPRE2-related disorder: expanding the neurodevelopmental phenotype von Powell-Hamilton, Nina N.

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HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients von Moortgat, Stéphanie, Berland, Siren, Aukrust, Ingvild, Maystadt, Isabelle, Baker, Laura, Benoit, Valerie, Caro-Llopis, Alfonso, Cooper, Nicola S, Debray, François-Guillaume, Faivre, Laurence, Gardeitchik, Thatjana, Haukanes, Bjørn I, Houge, Gunnar, Kivuva, Emma, Martinez, Francisco, Mehta, Sarju G, Nassogne, Marie-Cécile, Powell-Hamilton, Nina, Pfundt, Rolph, Rosello, Monica, Prescott, Trine, Vasudevan, Pradeep, van Loon, Barbara, Verellen-Dumoulin, Christine, Verloes, Alain, Lippe, Charlotte von der, Wakeling, Emma, Wilkie, Andrew O M, Wilson, Louise, Yuen, Amy, Study, Ddd, Low, Karen J, Newbury-Ecob, Ruth A

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Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome von Kummeling, Joost, Stremmelaar, Diante E, Raun, Nicholas, Reijnders, Margot R F, Willemsen, Marjolein H, Ruiterkamp-Versteeg, Martina, Schepens, Marga, Man, Calvin C O, Gilissen, Christian, Cho, Megan T, McWalter, Kirsty, Sinnema, Margje, Wheless, James W, Simon, Marleen E H, Genetti, Casie A, Casey, Alicia M, Terhal, Paulien A, van der Smagt, Jasper J, van Gassen, Koen L I, Joset, Pascal, Bahr, Angela, Steindl, Katharina, Rauch, Anita, Keller, Elmar, Raas-Rothschild, Annick, Koolen, David A, Agrawal, Pankaj B, Hoffman, Trevor L, Powell-Hamilton, Nina N, Thiffault, Isabelle

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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome von 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 von 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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Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders von Bostwick, Bret L, McLean, Scott, Posey, Jennifer E, Streff, Haley E, Gripp, Karen W, Blesson, Alyssa, Powell-Hamilton, Nina, Tusi, Jessica, Stevenson, David A, Farrelly, Ellyn, Hudgins, Louanne, Yang, Yaping, Xia, Fan, Wang, Xia, Liu, Pengfei, Walkiewicz, Magdalena, McGuire, Marianne, Grange, Dorothy K, Andrews, Marisa V, Hummel, Marybeth, Madan-Khetarpal, Suneeta, Infante, Elena, Coban-Akdemir, Zeynep, Miszalski-Jamka, Karol, Jefferies, John L, Rosenfeld, Jill A, Emrick, Lisa, Nugent, Kimberly M, Lupski, James R, Belmont, John W, Lee, Brendan, Lalani, Seema R

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Clinical, Pathologic, and Mutational Spectrum of Dystroglycanopathy Caused by LARGE Mutations von Meilleur, Katherine G, Zukosky, Kristen, Medne, Livija, Fequiere, Pierre, Powell-Hamilton, Nina, Winder, Thomas L, Alsaman, Abdulaziz, El-Hattab, Ayman W, Dastgir, Jahannaz, Hu, Ying, Donkervoort, Sandra, Golden, Jeffrey A, Eagle, Ralph, Finkel, Richard, Scavina, Mena, Hood, Ian C, Rorke-Adams, Lucy B, Bönnemann, Carsten G

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A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations von Kumar, Raman, Gordon, Christopher T, Shaw, Marie, Hubert, Laurence, Carroll, Renee, Rio, Marlène, Murray, Lucinda, Leffler, Melanie, Dudding-Byth, Tracy, Oufadem, Myriam, Lalani, Seema R, Lewis, Andrea M, Xia, Fan, Tam, Allison, Webster, Richard, Brammah, Susan, Filippini, Francesca, Spies, Judy, Minoche, Andre E, Cowley, Mark J, Risen, Sarah, Powell-Hamilton, Nina N, Tusi, Jessica E, Immken, LaDonna, Nagakura, Honey, Bole-Feysot, Christine, Nitschké, Patrick, Garrigue, Alexandrine, de Saint Basile, Geneviève, Kivuva, Emma, Rendon, Augusto, Munnich, Arnold, Newman, William, Kerr, Bronwyn, Besmond, Claude, Rosenfeld, Jill A, Amiel, Jeanne, Gecz, Jozef

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Clinical, Pathological and Mutational Spectrum of Dystroglycanopathy Due to LARGE Mutations von Meilleur, Katherine G., Zukosky, Kristen, Medne, Livija, Fequiere, Pierre, Powell-Hamilton, Nina, Winder, Thomas L., Alsaman, Abdulaziz, El-Hattab, Ayman W., Dastgir, Jahannaz, Hu, Ying, Donkervoort, Sandra, Golden, Jeffrey A., Eagle, Ralph, Finkel, Richard, Scavina, Mena, Hood, Ian C., Rorke-Adams, Lucy B., Bönnemann, Carsten G.

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Inherited intragenic PBX1 deletion: Expanding the phenotype von Fitzgerald, Kristi K, Powell-Hamilton, Nina, Shillingford, Amanda J, Robinson, Bradley, Gripp, Karen W

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