Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes von Tucker, Tracy, Zahir, Farah R, Griffith, Malachi, Delaney, Allen, Chai, David, Tsang, Erica, Lemyre, Emmanuelle, Dobrzeniecka, Sylvia, Marra, Marco, Eydoux, Patrice, Langlois, Sylvie, Hamdan, Fadi F, Michaud, Jacques L, Friedman, Jan M

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BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis von Zong, Zheyuan, Tees, Susan, Miyanji, Firoz, Fauth, Clarissa, Reilly, Christopher, Lopez, Elena, Tredwell, Stephen, Paul Goldberg, Yigal, Delaney, Allen, Eydoux, Patrice, Van Allen, Margot, Lehman, Anna

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Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation von Tucker, Tracy, Montpetit, Alexandre, Chai, David, Chan, Susanna, Chénier, Sébastien, Coe, Bradley P, Delaney, Allen, Eydoux, Patrice, Lam, Wan L, Langlois, Sylvie, Lemyre, Emmanuelle, Marra, Marco, Qian, Hong, Rouleau, Guy A, Vincent, David, Michaud, Jacques L, Friedman, Jan M

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Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data von Baross, Agnes, Delaney, Allen D, Li, H Irene, Nayar, Tarun, Flibotte, Stephane, Qian, Hong, Chan, Susanna Y, Asano, Jennifer, Ally, Adrian, Cao, Manqiu, Birch, Patricia, Brown-John, Mabel, Fernandes, Nicole, Go, Anne, Kennedy, Giulia, Langlois, Sylvie, Eydoux, Patrice, Friedman, J M, Marra, Marco A

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Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p von Schlade-Bartusiak, Kamilla, Tucker, Tracy, Safavi, Holly, Livingston, Janet, van Allen, Margot I, Eydoux, Patrice, Armstrong, Linlea

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De Novo Mutations in YWHAG Cause Early-Onset Epilepsy von Guella, Ilaria, McKenzie, Marna B., Evans, Daniel M., Buerki, Sarah E., Toyota, Eric B., Van Allen, Margot I., Adam, Shelin, Boelman, Cyrus, Bolbocean, Corneliu, Candido, Tara, Eydoux, Patrice, Horvath, Gabriella, Huh, Linda, Nelson, Tanya N., Sinclair, Graham, van Karnebeek, Clara, Vercauteren, Suzanne, Suri, Mohnish, Elmslie, Frances, Simon, Marleen E.H., van Gassen, Koen L.I., Héron, Delphine, Keren, Boris, Nava, Caroline, Connolly, Mary B., Demos, Michelle, Farrer, Matthew J.

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Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy von Lehman, Anna, Thouta, Samrat, Mancini, Grazia M.S., Naidu, Sakkubai, van Slegtenhorst, Marjon, McWalter, Kirsty, Person, Richard, Mwenifumbo, Jill, Salvarinova, Ramona, Adam, Shelin, du Souich, Christèle, Elliott, Alison M., Lehman, Anna, Mwenifumbo, Jill, Nelson, Tanya N., van Karnebeek, Clara, Friedman, Jan M., Boelman, Cyrus, Bolbocean, Corneliu, Buerki, Sarah E., Candido, Tara, Eydoux, Patrice, Evans, Daniel M., Gibson, William, Horvath, Gabriella, Huh, Linda, Sinclair, Graham, Tarling, Tamsin, Toyota, Eric B., Townsend, Katelin N., Van Allen, Margot I., Vercauteren, Suzanne, Guella, Ilaria, McKenzie, Marna B., Datta, Anita, Connolly, Mary B., Kalkhoran, Somayeh Mojard, Poburko, Damon, Friedman, Jan M., Farrer, Matthew J., Demos, Michelle, Desai, Sonal, Claydon, Thomas

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Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy von Lee, Jessica J. Y., van Karnebeek, Clara D. M., Drögemoller, Britt, Shyr, Casper, Tarailo-Graovac, Maja, Eydoux, Patrice, Ross, Colin J., Wasserman, Wyeth W., Björnson, Bruce, Wu, John K.

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The Eμ-Ret mouse is a novel model of hyperdiploid B-cell acute lymphoblastic leukemia von Farrokhi, Ali, Atre, Tanmaya, Rever, Jenna, Fidanza, Mario, Duey, Wendy, Salitra, Samuel, Myung, Junia, Guo, Meiyun, Jo, Sumin, Uzozie, Anuli, Baharvand, Fatemeh, Rolf, Nina, Auer, Franziska, Hauer, Julia, Grupp, Stephan A., Eydoux, Patrice, Lange, Philipp F., Seif, Alix E., Maxwell, Christopher A., Reid, Gregor S. D.

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Mutations in EZH2 Cause Weaver Syndrome von Gibson, William T., Hood, Rebecca L., Zhan, Shing Hei, Bulman, Dennis E., Fejes, Anthony P., Moore, Richard, Mungall, Andrew J., Eydoux, Patrice, Babul-Hirji, Riyana, An, Jianghong, Marra, Marco A., Chitayat, David, Boycott, Kym M., Weaver, David D., Jones, Steven J.M.

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Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood von van Karnebeek, Clara D., Sly, William S., Ross, Colin J., Salvarinova, Ramona, Yaplito-Lee, Joy, Santra, Saikat, Shyr, Casper, Horvath, Gabriella A., Eydoux, Patrice, Lehman, Anna M., Bernard, Virginie, Newlove, Theresa, Ukpeh, Henry, Chakrapani, Anupam, Preece, Mary Anne, Ball, Sarah, Pitt, James, Vallance, Hilary D., Coulter-Mackie, Marion, Nguyen, Hien, Zhang, Lin-Hua, Bhavsar, Amit P., Sinclair, Graham, Waheed, Abdul, Wasserman, Wyeth W., Stockler-Ipsiroglu, Sylvia

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Engraftment and Long-Term Survival at Low Burden of Leukemic Blasts from Primary MRD+ Human Bone Marrow in a Xenotransplant Setting von Rolf, Nina, Tsang, Angela, Fotovati, Abbas, Bashir, Arnawaz, Eydoux, Patrice, Vercauteren, Suzanne M, Reid, Gregor SD

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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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Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy von Demos, Michelle, Guella, Ilaria, DeGuzman, Conrado, McKenzie, Marna B, Buerki, Sarah E, Evans, Daniel M, Toyota, Eric B, Boelman, Cyrus, Huh, Linda L, Datta, Anita, Michoulas, Aspasia, Selby, Kathryn, Bjornson, Bruce H, Horvath, Gabriella, Lopez-Rangel, Elena, van Karnebeek, Clara D M, Salvarinova, Ramona, Slade, Erin, Eydoux, Patrice, Adam, Shelin, Van Allen, Margot I, Nelson, Tanya N, Bolbocean, Corneliu, Connolly, Mary B, Farrer, Matthew J

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Two Patients With KCNT1-Related Epilepsy Responding to Phenobarbital and Potassium Bromide von Datta, Anita N., Michoulas, Aspasia, Guella, Ilaria, Demos, Michelle

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Uniparental disomy: can SNP array data be used for diagnosis? von Tucker, Tracy, Schlade-Bartusiak, Kamilla, Eydoux, Patrice, Nelson, Tanya N., Brown, Lindsay

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Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations von Lehman, Anna, Stittrich, Anna-Barbara, Glusman, Gustavo, Zong, Zheyuan, Li, Hong, Eydoux, Patrice, Senger, Christof, Lyons, Christopher, Roach, Jared C., Patel, Millan

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Renpenning syndrome in a female von Cho, Raymond Y., Peñaherrera, Maria S., Du Souich, Christele, Huang, Lijia, Mwenifumbo, Jill, Nelson, Tanya N., Elliott, Alison M., Adam, Shelin, Eydoux, Patrice, Yang, Gui X., Chijiwa, Chieko, Van Allen, Margot I., Friedman, Jan M., Robinson, Wendy P., Lehman, Anna

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MG-127 Diagnostic accuracy of chromosome microarray in children with epilepsy and neurological abnormalities of unknown aetiology von Buerki, Sarah E, Slade, Erin, Schlade-Bartusiak, Kamilla, Brown, Lindsay, Rajcan-Separovic, Evica, Eydoux, Patrice, Connolly, Mary B, Demos, Michelle K

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Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders von Niederhoffer, Karen Y., Fahiminiya, Somayyeh, Eydoux, Patrice, Mawson, John, Nishimura, Gen, Jerome-Majewska, Loydie A., Patel, Millan S.

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