Expanding the phenotype of Wiedemann‐Steiner syndrome: Craniovertebral junction anomalies von 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 von 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 von 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 von Taliercio, Vanina, Selvam, Pavalan, Akay, Gulsen, Cole, Stacey, Flores-Daboub, Josue, Viskochil, David

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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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New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome von 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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A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies von 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 von 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 von 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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ERG Is a New Predisposition Gene for Bone Marrow Failure and Hematological Malignancy von 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 phenotype ofWiedemann-Steinersyndrome: Craniovertebral junction anomalies von 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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Non-Immune Hydrops, Hypotonia, Encephalopathy, and Liver Failure with Novel Compound Heterozygous AHCY Mutations von Judkins, Allison J., MacQueen, Brianna C., Christensen, Robert D., Comstock, Jessica, Mao, Rong, Flores-Daboub, Josue

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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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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles von 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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Non-Immune Hydrops, Hypotonia, Encephalopathy, and Liver Failure with Novel Compound Heterozygous AHCY Mutations von Judkins, Allison J, MacQueen, Brianna C, Christensen, Robert D, Comstock, Jessica, Mao, Rong, Flores-Daboub, Josue

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Additional file 2: of New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome von Chater-Diehl, Eric, Ejaz, Resham, Cytrynbaum, Cheryl, Siu, Michelle, Turinsky, Andrei, Choufani, Sanaa, Goodman, Sarah, 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, Anagnostou, Evdokia, Piton, Amelie, Deardorff, Matthew, Brudno, Michael, Chitayat, David, Weksberg, Rosanna

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