Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs von Szafranski, Przemyslaw, Coban-Akdemir, Zeynep H., Rupps, Rosemarie, Grazioli, Serge, Wensley, David, Jhangiani, Shalini N., Popek, Edwina, Lee, Anna F., Lupski, James R., Boerkoel, Cornelius F., Stankiewicz, Paweł

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Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders von Michalk, Anne, Stricker, Sigmar, Becker, Jutta, Rupps, Rosemarie, Pantzar, Tapio, Miertus, Jan, Botta, Giovanni, Naretto, Valeria G., Janetzki, Catrin, Yaqoob, Nausheen, Ott, Claus-Eric, Seelow, Dominik, Wieczorek, Dagmar, Fiebig, Britta, Wirth, Brunhilde, Hoopmann, Markus, Walther, Marisa, Körber, Friederike, Blankenburg, Markus, Mundlos, Stefan, Heller, Raoul, Hoffmann, Katrin

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Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation von Niederhoffer, Karen Y., Peñaherrera, Maria, Pugash, Denise, Rupps, Rosemarie, Arbour, Laura, Tessier, Francine, Choufani, Sanaa, Zhao, Chunhua, Manokhina, Irina, Shuman, Cheryl, Robinson, Wendy P., Weksberg, Rosanna, Boerkoel, Cornelius F.

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Prenatal Autoimmune Disease, Multisystem, Infantile Onset-like Phenotype and Proximal Renal Tubular Dysplasia Associated With STAT3 Mutation von Terry, Jefferson, Langlois, Sylvie, Rupps, Rosemarie, Gill, Harinder

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An approach to rapid characterization of DMD copy number variants for prenatal risk assessment von Chin, Hui‐Lin, O'Neill, Kieran, Louie, Kristal, Brown, Lindsay, Schlade‐Bartusiak, Kamilla, Eydoux, Patrice, Rupps, Rosemarie, Farahani, Ali, Boerkoel, Cornelius F., Jones, Steven J. M.

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FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability? von Myers, Angela, du Souich, Christèle, Yang, Connie L., Borovik, Lior, Mwenifumbo, Jill, Rupps, Rosemarie, Study, CAUSES, Lehman, Anna, Boerkoel, Cornelius F.

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Novel Mutations in FA2H-Associated Neurodegeneration: An Underrecognized Condition? von Rupps, Rosemarie, Hukin, Juliette, Balicki, Martha, Mercimek-Mahmutoglu, Saadet, Rolfs, Arndt, Dias, Cristina

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Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders von Dias, Cristina, Rupps, Rosemarie, Millar, Benjamin, Choi, Kunho, Marra, Marco, Demos, Michelle, Kratz, Lisa E, Boerkoel, Cornelius F

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Phenotypic evolution of UNC80 loss of function von Valkanas, Elise, Schaffer, Katherine, Dunham, Christopher, Maduro, Valerie, du Souich, Christèle, Rupps, Rosemarie, Adams, David R., Baradaran-Heravi, Alireza, Flynn, Elise, Malicdan, May C., Gahl, William A., Toro, Camilo, Boerkoel, Cornelius F.

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Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study von Elliott, Alison M., Adam, Shelin, du Souich, Christèle, Lehman, Anna, Nelson, Tanya N., van Karnebeek, Clara, Alderman, Emily, Armstrong, Linlea, Aubertin, Gudrun, Blood, Katherine, Boelman, Cyrus, Boerkoel, Cornelius, Bretherick, Karla, Brown, Lindsay, Chijiwa, Chieko, Clarke, Lorne, Couse, Madeline, Creighton, Susan, Watts-Dickens, Abby, Gibson, William T., Gill, Harinder, Tarailo-Graovac, Maja, Hamilton, Sara, Heran, Harindar, Horvath, Gabriella, Huang, Lijia, Hulait, Gurdip K., Koehn, David, Lee, Hyun Kyung, Lewis, Suzanne, Lopez, Elena, Louie, Kristal, Niederhoffer, Karen, Matthews, Allison, Meagher, Kirsten, Peng, Junran J., Patel, Millan S., Race, Simone, Richmond, Phillip, Rupps, Rosemarie, Salvarinova, Ramona, Seath, Kimberly, Selby, Kathryn, Steinraths, Michelle, Stockler, Sylvia, Tang, Kaoru, Tyson, Christine, van Allen, Margot, Wasserman, Wyeth, Mwenifumbo, Jill, Friedman, Jan M.

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Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability von Maduro, Valerie, Pusey, Barbara N, Cherukuri, Praveen F, Atkins, Paul, du Souich, Christèle, Rupps, Rosemarie, Limbos, Marjolaine, Adams, David R, Bhatt, Samarth S, Eydoux, Patrice, Links, Amanda E, Lehman, Anna, Malicdan, May C, Mason, Christopher E, Morimoto, Marie, Mullikin, James C, Sear, Andrew, Van Karnebeek, Clara, Stankiewicz, Pawel, Gahl, William A, Toro, Camilo, Boerkoel, Cornelius F

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An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia von Dias, Cristina, Sincan, Murat, Cherukuri, Praveen F., Rupps, Rosemarie, Huang, Yan, Briemberg, Hannah, Selby, Kathryn, Mullikin, James C., Markello, Thomas C., Adams, David R., Gahl, William A., Boerkoel, Cornelius F.

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Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation von Dias, Cristina, McDonald, Allison, Sincan, Murat, Rupps, Rosemarie, Markello, Thomas, Salvarinova, Ramona, Santos, Rui F, Menghrajani, Kamal, Ahaghotu, Chidi, Sutherland, Darren P, Fortuno, 3rd, Edgardo S, Kollmann, Tobias R, Demos, Michelle, Friedman, Jan M, Speert, David P, Gahl, William A, Boerkoel, Cornelius F

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A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature von Brown, Lindsay A., Rupps, Rosemarie, Peñaherrera, Maria S., Robinson, Wendy P., Patel, Millan S., Eydoux, Patrice, Boerkoel, Cornelius F.

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Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization von DeScipio, Cheryl, Conlin, Laura, Rosenfeld, Jill, Tepperberg, James, Pasion, Romela, Patel, Ankita, McDonald, Marie T., Aradhya, Swaroop, Ho, Darlene, Goldstein, Jennifer, McGuire, Marianne, Mulchandani, Surabhi, Medne, Livija, Rupps, Rosemarie, Serrano, Alvaro H., Thorland, Erik C., Tsai, Anne C.-H., Hilhorst-Hofstee, Yvonne, Ruivenkamp, Claudia A.L., Van Esch, Hilde, Addor, Marie-Claude, Martinet, Danielle, Mason, Thornton B.A., Clark, Dinah, Spinner, Nancy B., Krantz, Ian D.

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Life‐history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome von Tsang, Erica, Rupps, Rosemarie, McGillivray, Barbara, Eydoux, Patrice, Marra, Marco, Arbour, Laura, Langlois, Sylvie, Friedman, Jan M., Zahir, Farah R.

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A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the im... von Arbour, Laura, Rezazadeh, Saman, Eldstrom, Jodene, Weget-Simms, Gwen, Rupps, Rosemarie, Dyer, Zoe, Tibbits, Glen, Accili, Eric, Casey, Brett, Kmetic, Andrew, Sanatani, Shubhayan, Fedida, David

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Hypothesis: SLC12A3 Polymorphism modifies thiazide hypersensitivity of antenatal Bartter syndrome to thiazide resistance von Mammen, Cherry, Rupps, Rosemarie, Trnka, Peter, Boerkoel, Cornelius F

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Abstract 639: Destabilization Of The Open State Of I Ks Potassium Channels By A KCNQ1 V205M Missense Mutation Causes An Inherited Form Of LQTS In A Canadian Aboriginal Community von Rezazadeh, Saman, Eldstrom, Jodene, Rupps, Rosemarie, Sanatani, Shubhayan, Casey, Brett, Tibbits, Glen, Accili, Eric, Arbour, Laura, Fedida, David

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Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization von Descipio, Cheryl, Conlin, Laura, Rosenfeld, Jill, Tepperberg, James, Pasion, Romela, Patel, Ankita, McDonald, Marie T, Aradhya, Swaroop, Goldstein, Jennifer, McGuire, Marianne, Mulchandani, Surabhi, Medne, Livija, Rupps, Rosemarie, Serrano, Alvaro H, Thorland, Erik C, Tsai, Anne C.-H, Hilhorst-Hofstee, Yvonne, Ruivenkamp, Claudia A.L, Van Esch, Hilde, Addor, Marie-Claude, Martinet, Danielle, Mason, Thornton B.A, Clark, Dinah, Spinner, Nancy B, Krantz, Ian D

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