Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1 von Rajcan-Separovic, E, Harvard, C, Liu, X, McGillivray, B, Hall, J G, Qiao, Y, Hurlburt, J, Hildebrand, J, Mickelson, E C R, Holden, J J A, Lewis, M E S

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A genome-wide DNA methylation signature for SETD1B-related syndrome von Krzyzewska, I M, Maas, S M, Henneman, P, Lip, K V D, Venema, A, Baranano, K, Chassevent, A, Aref-Eshghi, E, van Essen, A J, Fukuda, T, Ikeda, H, Jacquemont, M, Kim, H-G, Labalme, A, Lewis, S M E, Lesca, G, Madrigal, I, Mahida, S, Matsumoto, N, Rabionet, R, Rajcan-Separovic, E, Qiao, Y, Sadikovic, B, Saitsu, H, Sweetser, D A, Alders, M, Mannens, M M A M

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Identification of copy number variants in miscarriages from couples with idiopathic recurrent pregnancy loss von Rajcan-Separovic, E., Diego-Alvarez, D., Robinson, W.P., Tyson, C., Qiao, Y., Harvard, C., Fawcett, C., Kalousek, D., Philipp, T., Somerville, M.J., Stephenson, M.D.

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Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability von Qiao, Y, Tyson, C, Hrynchak, M, Lopez-Rangel, E, Hildebrand, J, Martell, S, Fawcett, C, Kasmara, L, Calli, K, Harvard, C, Liu, X, Holden, JJA, Lewis, SME, Rajcan-Separovic, E

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Autism-associated familial microdeletion of Xp11.22 von Qiao, Y, Liu, X, Harvard, C, Hildebrand, MJ, Rajcan-Separovic, E, Holden, JJA, Lewis, MES

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Phenomic determinants of genomic variation in autism spectrum disorders von Qiao, Y, Riendeau, N, Koochek, M, Liu, X, Harvard, Chansonette, Hildebrand, M J, Holden, J J A, Rajcan-Separovic, E, Lewis, M E S

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Genomic changes detected by array CGH in human embryos with developmental defects von Rajcan-Separovic, E., Qiao, Y., Tyson, C., Harvard, C., Fawcett, C., Kalousek, D., Stephenson, M., Philipp, T.

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Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH von Tyson, C., Harvard, C., Locker, R., Friedman, J.M., Langlois, S., Lewis, M.E.S., Van Allen, M., Somerville, M., Arbour, L., Clarke, L., McGilivray, B., Yong, S.L., Siegel-Bartel, J., Rajcan-Separovic, E.

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Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics von Qiao, Y, Harvard, C, Tyson, C, Liu, X, Fawcett, C, Pavlidis, P, Holden, J. J. A, Lewis, M. E. S, Rajcan-Separovic, E

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Effects of triploidy on early human development von Philipp, T., Grillenberger, K., Separovic, E. R., Philipp, K., Kalousek, D. K.

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15q Duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH von Koochek, M, Harvard, C, Hildebrand, MJ, Van Allen, M, Wingert, H, Mickelson, E, Holden, JJA, Rajcan-Separovic, E, Lewis, MES

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A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH von Harvard, C, Malenfant, P, Koochek, M, Creighton, S, Mickelson, ECR, Holden, JJA, Lewis, MES, Rajcan-Separovic, E

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Molecular cytogenetic investigation of two patients with Y chromosome rearrangements and intellectual disability von Tyson, C., Dawson, A.J., Bal, S., Tomiuk, M., Anderson, T., Tucker, D., Riordan, D., Chudoba, I., Morash, B., Mhanni, A., Chudley, A.E., McGillivray, B., Parslow, M., Rappold, G., Roeth, R., Fawcett, C., Qiao, Y., Harvard, C., Rajcan‐Separovic, E.

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Transcervical fetoscopic diagnosis of structural defects in four first-trimester monochorionic twin intrauterine deaths von Philipp, T., Separovic, E. R., Philipp, K., Reiner, A., Kalousek, D. K.

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Putatively benign copy number variants in subjects with idiopathic autism spectrum disorder and/or intellectual disability von Qiao, Y., Harvard, C., Riendeau, N., Fawcett, C., Liu, X., Holden, J.J.A., Lewis, M.E.S., Rajcan-Separovic, E.

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Non-muscle myosin heavy chain (MYH9): A new partner fused to ALK in anaplastic large cell lymphoma von Lamant, Laurence, Gascoyne, Randy D., Duplantier, Marie Michèle, Armstrong, Florence, Raghab, Ashraf, Chhanabhai, Mukesh, Rajcan-Separovic, Evica, Raghab, Janie, Delsol, Georges, Espinos, Estelle

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Expression and Genetic Analysis of XIAP-Associated Factor 1 (XAF1) in Cancer Cell Lines von Fong, Wai Gin, Liston, Peter, Rajcan-Separovic, Evica, St. Jean, Martine, Craig, Constance, Korneluk, Robert G.

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Comparative Genomic Hybridization in Combination with Flow Cytometry Improves Results of Cytogenetic Analysis of Spontaneous Abortions von Lomax, Brenda, Tang, Steven, Separovic, Evica, Phillips, Don, Hillard, E., Thomson, Tom, Kalousek, Dagmar K.

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Clinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray Analysis von Quintero-Rivera, Fabiola, Peredo, Jane, Dipple, Katrina M., Kohannim, Omid

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A genome-wide DNA methylation signature for SETD1B-related syndrome von Krzyzewska, I. M, Maas, S. M, Henneman, Peter, Lip, K. V. D, Venema, A, Baranano, K, Chassevent, A, Aref-Eshghi, E, Essen, A. J. van, Fukuda, T, Ikeda, H, Jacquemont, M, Kim, H. G, Labalme, Audrey, Lewis, S. M, Lesca, Gaetan, Madrigal Bajo, Irene, Mahida, S, Matsumoto, N, Rabionet Janssen, Raquel, Rajcan-Separovic, E, Qiao, Y, Sadikovic, B, Saitsu, H, Sweetser, D. A, Alders, M, Mannens, M. M. A. M

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