Gas Introduction by Permeation into Long Fluorinated Ethylene Propylene Capillaries with Slug Flow von Vietinghoff, Niclas, Immken, Anne, Seidensticker, Thomas, Caro, Pascale, Thiebaud-Roux, Sophie, Agar, David W.

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Detection of clinically relevant exonic copy-number changes by array CGH von Boone, Philip M., Bacino, Carlos A., Shaw, Chad A., Eng, Patricia A., Hixson, Patricia M., Pursley, Amber N., Kang, Sung-Hae L., Yang, Yaping, Wiszniewska, Joanna, Nowakowska, Beata A., del Gaudio, Daniela, Xia, Zhilian, Simpson-Patel, Gayle, Immken, LaDonna L., Gibson, James B., Tsai, Anne C.-H., Bowers, Jennifer A., Reimschisel, Tyler E., Schaaf, Christian P., Potocki, Lorraine, Scaglia, Fernando, Gambin, Tomasz, Sykulski, Maciej, Bartnik, Magdalena, Derwinska, Katarzyna, Wisniowiecka-Kowalnik, Barbara, Lalani, Seema R., Probst, Frank J., Bi, Weimin, Beaudet, Arthur L., Patel, Ankita, Lupski, James R., Cheung, Sau Wai, Stankiewicz, Pawel

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Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes von Carvalho, Claudia M.B., Vasanth, Shivakumar, Shinawi, Marwan, Russell, Chad, Ramocki, Melissa B., Brown, Chester W., Graakjaer, Jesper, Skytte, Anne-Bine, Vianna-Morgante, Angela M., Krepischi, Ana C.V., Patel, Gayle S., Immken, LaDonna, Aleck, Kyrieckos, Lim, Cynthia, Cheung, Sau Wai, Rosenberg, Carla, Katsanis, Nicholas, Lupski, James R.

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Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder von Latypova, Xenia, Vincent, Marie, Mollé, Alice, Adebambo, Oluwadamilare A., Fourgeux, Cynthia, Khan, Tahir N., Caro, Alfonso, Rosello, Monica, Orellana, Carmen, Niyazov, Dmitriy, Lederer, Damien, Deprez, Marie, Capri, Yline, Kannu, Peter, Tabet, Anne Claude, Levy, Jonathan, Aten, Emmelien, den Hollander, Nicolette, Splitt, Miranda, Walia, Jagdeep, Immken, Ladonna L., Stankiewicz, Pawel, McWalter, Kirsty, Suchy, Sharon, Louie, Raymond J., Bell, Shannon, Stevenson, Roger E., Rousseau, Justine, Willem, Catherine, Retiere, Christelle, Yang, Xiang-Jiao, Campeau, Philippe M., Martinez, Francisco, Rosenfeld, Jill A., Le Caignec, Cédric, Küry, Sébastien, Mercier, Sandra, Moradkhani, Kamran, Conrad, Solène, Besnard, Thomas, Cogné, Benjamin, Katsanis, Nicholas, Bézieau, Stéphane, Poschmann, Jeremie, Davis, Erica E., Isidor, Bertrand

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Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders von O'Grady, Lauren, Schrier Vergano, Samantha A., Hoffman, Trevor L., Sarco, Dean, Cherny, Sara, Bryant, Emily, Schultz‐Rogers, Laura, Chung, Wendy K., Sacharow, Stephanie, Immken, Ladonna L., Holder, Susan, Blackwell, Rebecca R., Buchanan, Catherine, Yusupov, Roman, Lecoquierre, François, Guerrot, Anne‐Marie, Rodan, Lance, Vries, Bert B. A., Kamsteeg, Erik Jan, Santos Simarro, Fernando, Palomares‐Bralo, Maria, Brown, Natasha, Pais, Lynn, Ferrer, Alejandro, Klee, Eric W., Babovic‐Vuksanovic, Dusica, Rhodes, Lindsay, Person, Richard, Begtrup, Amber, Keller‐Ramey, Jennifer, Santiago‐Sim, Teresa, Schnur, Rhonda E., Sweetser, David A., Gold, Nina B.

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Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders von O’Grady, Lauren, Sweetser, David, Gold, Nina, Vergano, Samantha, Hoffman, Trevor, Cherny, Sara, Bryant, Emily, Schultz-Rogers, Laura, Chung, Wendy, Sacharow, Stephanie, Immken, LaDonna, Holder, Susan, Yusupov, Roman, Lecoquierre, François, Guerrot, Anne-Marie, Rodan, Lance, Sarco, Dean

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eP167 - Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders von O’Grady, Lauren, Sweetser, David, Gold, Nina, Vergano, Samantha, Hoffman, Trevor, Cherny, Sara, Bryant, Emily, Schultz-Rogers, Laura, Chung, Wendy, Sacharow, Stephanie, Immken, LaDonna, Holder, Susan, Yusupov, Roman, Lecoquierre, François, Guerrot, Anne-Marie, Rodan, Lance, Sarco, Dean

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Phenotypic expansion in DDX3X – a common cause of intellectual disability in females von Wang, Xia, Posey, Jennifer E., Rosenfeld, Jill A., Bacino, Carlos A., Scaglia, Fernando, Immken, LaDonna, Harris, Jill M., Hickey, Scott E., Mosher, Theresa M., Slavotinek, Anne, Zhang, Jing, Beuten, Joke, Leduc, Magalie S., He, Weimin, Vetrini, Francesco, Walkiewicz, Magdalena A., Bi, Weimin, Xiao, Rui, Liu, Pengfei, Shao, Yunru, Gezdirici, Alper, Gulec, Elif Y., Jiang, Yunyun, Darilek, Sandra A., Hansen, Adam W., Khayat, Michael M., Pehlivan, Davut, Piard, Juliette, Muzny, Donna M., Hanchard, Neil, Belmont, John W., Van Maldergem, Lionel, Gibbs, Richard A., Eldomery, Mohammad K., Akdemir, Zeynep C., Adesina, Adekunle M., Chen, Shan, Lee, Yi‐Chien, Lee, Brendan, Lupski, James R., Eng, Christine M., Xia, Fan, Yang, Yaping, Graham, Brett H., Moretti, Paolo

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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848 von Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P, Becker, Troy A, Ben-Shachar, Shay, Bertola, Debora R, Blakeley, Jaishri O, Burkitt-Wright, Emma M.M, Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S, Cunningham, Mitch, D'Agostino, Maria D, Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D. Gareth R, Galvin-Parton, Patricia, George-Abraham, Jaya K, Gripp, Karen W, Guevara-Campos, Jose, Hanchard, Neil A, Hernández-Chico, Concepcion, Immken, LaDonna, Janssens, Sandra, Jones, Kristi J, Keena, Beth A, Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Arelis, Mahoney, Maurice J, Maystadt, Isabelle, McDougall, Carey, McEntagart, Meriel, Mendelsohn, Nancy, Miller, David T, Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R, Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S, Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W, Trevisson, Eva, Ullrich, Nicole J, Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R, Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R, Legius, Eric, Messiaen, Ludwine

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Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848 von Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P, Becker, Troy A, Ben-Shachar, Shay, Bertola, Debora R, Blakeley, Jaishri O, Burkitt-Wright, Emma MM, Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S, Cunningham, Mitch, D’Agostino, Maria D, Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D Gareth R, Galvin-Parton, Patricia, George-Abraham, Jaya K, Gripp, Karen W, Guevara-Campos, Jose, Hanchard, Neil A, Hernández-Chico, Concepcion, Immken, LaDonna, Janssens, Sandra, Jones, Kristi J, Keena, Beth A, Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Arelis, Mahoney, Maurice J, Maystadt, Isabelle, McDougall, Carey, McEntagart, Meriel, Mendelsohn, Nancy, Miller, David T, Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R, Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S, Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W, Trevisson, Eva, Ullrich, Nicole J, Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R, Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R, Legius, Eric, Messiaen, Ludwine M

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Phenotypic expansion in DDX 3X – a common cause of intellectual disability in females von Wang, Xia, Posey, Jennifer E., Rosenfeld, Jill A., Bacino, Carlos A., Scaglia, Fernando, Immken, LaDonna, Harris, Jill M., Hickey, Scott E., Mosher, Theresa M., Slavotinek, Anne, Zhang, Jing, Beuten, Joke, Leduc, Magalie S., He, Weimin, Vetrini, Francesco, Walkiewicz, Magdalena A., Bi, Weimin, Xiao, Rui, Liu, Pengfei, Shao, Yunru, Gezdirici, Alper, Gulec, Elif Y., Jiang, Yunyun, Darilek, Sandra A., Hansen, Adam W., Khayat, Michael M., Pehlivan, Davut, Piard, Juliette, Muzny, Donna M., Hanchard, Neil, Belmont, John W., Van Maldergem, Lionel, Gibbs, Richard A., Eldomery, Mohammad K., Akdemir, Zeynep C., Adesina, Adekunle M., Chen, Shan, Lee, Yi‐Chien, Lee, Brendan, Lupski, James R., Eng, Christine M., Xia, Fan, Yang, Yaping, Graham, Brett H., Moretti, Paolo

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Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders von O'Grady, Lauren, Schrier Vergano, Samantha A, Hoffman, Trevor L, Sarco, Dean, Cherny, Sara, Bryant, Emily, Schultz-Rogers, Laura, Chung, Wendy K, Sacharow, Stephanie, Immken, Ladonna L, Holder, Susan, Blackwell, Rebecca R, Buchanan, Catherine, Yusupov, Roman, Lecoquierre, François, Guerrot, Anne-Marie, Rodan, Lance, de Vries, Bert B A, Kamsteeg, Erik Jan, Santos Simarro, Fernando, Palomares-Bralo, Maria, Brown, Natasha, Pais, Lynn, Ferrer, Alejandro, Klee, Eric W, Babovic-Vuksanovic, Dusica, Rhodes, Lindsay, Person, Richard, Begtrup, Amber, Keller-Ramey, Jennifer, Santiago-Sim, Teresa, Schnur, Rhonda E, Sweetser, David A, Gold, Nina B

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Coexistence of myelodysplastic syndrome and untreated chronic lymphocytic leukemia with development of acute myeloid leukemia immediately after treatment of chronic lymphocytic leu... von Bracey, Arthur W., Maddox, Anne‐Marie, Immken, Ladonna, Hsu, Su Ming, Marks, Michael E.

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