genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies von Korbel, Jan O, Tirosh-Wagner, Tal, Urban, Alexander Eckehart, Chen, Xiao-Ning, Kasowski, Maya, Dai, Li, Grubert, Fabian, Erdman, Chandra, Gao, Michael C, Lange, Ken, Sobel, Eric M, Barlow, Gillian M, Aylsworth, Arthur S, Carpenter, Nancy J, Clark, Robin Dawn, Cohen, Monika Y, Doran, Eric, Falik-Zaccai, Tzipora, Lewin, Susan O, Lott, Ira T, McGillivray, Barbara C, Moeschler, John B, Pettenati, Mark J, Pueschel, Siegfried M, Rao, Kathleen W, Shaffer, Lisa G, Shohat, Mordechai, Van Riper, Alexander J, Warburton, Dorothy, Weissman, Sherman, Gerstein, Mark B, Snyder, Michael, Korenberg, Julie R

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Genotype-phenotype analysis of 4q deletion syndrome: Proposal of a critical region von Strehle, Eugen-Matthias, Yu, Linbo, Rosenfeld, Jill A., Donkervoort, Sandra, Zhou, Yulin, Chen, Tian-Jian, Martinez, Jose E., Fan, Yao-Shan, Barbouth, Deborah, Zhu, Hongbo, Vaglio, Alicia, Smith, Rosemarie, Stevens, Cathy A., Curry, Cynthia J., Ladda, Roger L., Fan, Zheng (Jane), Fox, Joyce E., Martin, Judith A., Abdel-Hamid, Hoda Z., McCracken, Elizabeth A., McGillivray, Barbara C., Masser-Frye, Diane, Huang, Taosheng

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Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization von Friedman, Jm, Adam, Shelin, Arbour, Laura, Armstrong, Linlea, Baross, Agnes, Birch, Patricia, Boerkoel, Cornelius, Chan, Susanna, Chai, David, Delaney, Allen D, Flibotte, Stephane, Gibson, William T, Langlois, Sylvie, Lemyre, Emmanuelle, Li, H Irene, MacLeod, Patrick, Mathers, Joan, Michaud, Jacques L, McGillivray, Barbara C, Patel, Millan S, Qian, Hong, Rouleau, Guy A, Van Allen, Margot I, Yong, Siu-Li, Zahir, Farah R, Eydoux, Patrice, Marra, Marco A

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Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation von Friedman, J.M., Baross, Ágnes, Delaney, Allen D., Ally, Adrian, Arbour, Laura, Asano, Jennifer, Bailey, Dione K., Barber, Sarah, Birch, Patricia, Brown-John, Mabel, Cao, Manqiu, Chan, Susanna, Charest, David L., Farnoud, Noushin, Fernandes, Nicole, Flibotte, Stephane, Go, Anne, Gibson, William T., Holt, Robert A., Jones, Steven J.M., Kennedy, Giulia C., Krzywinski, Martin, Langlois, Sylvie, Li, Haiyan I., McGillivray, Barbara C., Nayar, Tarun, Pugh, Trevor J., Rajcan-Separovic, Evica, Schein, Jacqueline E., Schnerch, Angelique, Siddiqui, Asim, Van Allen, Margot I., Wilson, Gary, Yong, Siu-Li, Zahir, Farah, Eydoux, Patrice, Marra, Marco A.

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Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14 von Menten, Björn, Buysse, Karen, Zahir, Farah, Hellemans, Jan, Hamilton, Sara J, Costa, Teresa, Fagerstrom, Carrie, Anadiotis, George, Kingsbury, Daniel, McGillivray, Barbara C, Marra, Marco A, Friedman, Jan M, Speleman, Frank, Mortier, Geert

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The 12q14 microdeletion syndrome: Additional patients and further evidence that HMGA2 is an important genetic determinant for human height von Buysse, Karen, Reardon, William, Mehta, Lakshmi, Costa, Teresa, Fagerstrom, Carrie, Kingsbury, Daniel J, Anadiotis, George, McGillivray, Barbara C, Hellemans, Jan, de Leeuw, Nicole, de Vries, Bert B.A, Speleman, Frank, Menten, Björn, Mortier, Geert

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Characterization of a new X‐linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus von du Souich, Christèle, Chou, Athena, Yin, Jingyi, Oh, Tracey, Nelson, Tanya N., Hurlburt, Jane, Arbour, Laura, Friedlander, Robin, McGillivray, Barbara C., Tyshchenko, Nataliya, Rump, Andreas, Poskitt, Kenneth J., Demos, Michelle K., Van Allen, Margot I., Boerkoel, Cornelius F.

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Redefining the Etiologic Landscape of Cerebellar Malformations von Aldinger, Kimberly A., Timms, Andrew E., Thomson, Zachary, Mirzaa, Ghayda M., Bennett, James T., Rosenberg, Alexander B., Roco, Charles M., Hirano, Matthew, Abidi, Fatima, Haldipur, Parthiv, Cheng, Chi V., Collins, Sarah, Park, Kaylee, Zeiger, Jordan, Overmann, Lynne M., Alkuraya, Fowzan S., Biesecker, Leslie G., Braddock, Stephen R., Cathey, Sara, Cho, Megan T., Chung, Brian H.Y., Everman, David B., Zarate, Yuri A., Jones, Julie R., Schwartz, Charles E., Goldstein, Amy, Hopkin, Robert J., Krantz, Ian D., Ladda, Roger L., Leppig, Kathleen A., McGillivray, Barbara C., Sell, Susan, Wusik, Katherine, Gleeson, Joseph G., Nickerson, Deborah A., Bamshad, Michael J., Gerrelli, Dianne, Lisgo, Steven N., Seelig, Georg, Ishak, Gisele E., Barkovich, A. James, Curry, Cynthia J., Glass, Ian A., Millen, Kathleen J., Doherty, Dan, Dobyns, William B.

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Unusual segregation products in sperm from a pericentric inversion 17 heterozygote von MIKHAAIL-PHILIPS, Monica M, MCGILLIVRAY, Barbara C, HAMILTON, Sara J, KO, Evelyn, CHERNOS, Judy, RADEMAKER, Alfred, MARTIN, Renée H

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Pregnancy With Uterine Vascular Malformations Associated With Hemorrhagic Hereditary Telangiectasia: A Case Report von Dahlgren, Leanne S., Effer, Sidney B., McGillivray, Barbara C., Pugash, Denise J.

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PARTIAL TRISOMY CHROMOSOME 5 COSEGREGATING WITH SCHIZOPHRENIA von Bassett, AnneS, Jones, BarryD, McGillivray, BarbaraC, Pantzar, J.Tapio

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Non-invasive prenatal testing von McGillivray, B C

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Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome von Drumheller, T, McGillivray, B C, Behrner, D, MacLeod, P, McFadden, D E, Roberson, J, Venditti, C, Chorney, K, Chorney, M, Smith, D I

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Evidence for multi-site closure of the neural tube in humans von Van Allen, Margot I., Kalousek, Dagmar K., Chernoff, Gerold F., Juriloff, Diana, Harris, Muriel, McGillivray, Barbara C., Yong, Siu-Li, Langlois, Sylvie, Macleod, Patrick M., Chitayat, David, Friedman, Jan M., Wilson, R. Doug, McFadden, Deborah, Pantzar, J., Ritchie, Susan, Hall, Judith G.

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The 12q14 microdeletion syndrome: Additional patients and further evidence that HMGA2 is an important genetic determinant for human height: Emerging Microdeletion and Microduplicat... von BUYSSE, Karen, REARDON, William, DE VRIES, Bert B. A, SPELEMAN, Frank, MENTEN, Björn, MORTIER, Geert, MEHTA, Lakshmi, COSTA, Teresa, FAGERSTROM, Carrie, KINGSBURY, Daniel J, ANADIOTIS, George, MCGILLIVRAY, Barbara C, HELLEMANS, Jan, DE LEEUW, Nicole

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Partial trisomy chromosome 5 cosegregating with schizophrenia von Bassett, A S, McGillivray, B C, Jones, B D, Pantzar, J T

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Implications of the age range in a population-based BRCA1 testing program with eligibility based on family history of breast and ovarian cancer von Bajdik, Chris D, Raboud, Janet M, McGillivray, Barbara C, Schechter, Martin T, Gallagher, Richard P

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Confined chorionic mosaicism in prenatal diagnosis von KALOUSEK, D. K, DILL, F. J, PANTZAR, T, MCGILLIVRAY, B. C, SIU LI YONG, WILSON, R. D

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Germinal mosaicism in Duchenne muscular dystrophy von WOOD, S, MCGILLIVRAY, B. C

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Anterior segment dysgenesis and congenital glaucoma associated with partial trisomy of chromosome 1 (1q32-qter) von Broadway, David C., Lyons, Christopher J., McGillivray, Barbara C.

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