The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins, Tammy Kammin, Elyse Mitchell, Jennelle C. Hodge, Carrie Hanscom, Vamsee Pillalamarri, Catarina M. Seabra, Mary-Alice Abbott, Omar A. Abdul-Rahman, Erika Aberg, Rhett Adley, Sofia L. Alcaraz-Estrada, Fowzan S. Alkuraya, Yu An, Mary-Anne Anderson, Caroline Antolik, Kwame Anyane-Yeboa, Joan F. AtkinTina Bartell, Jonathan A. Bernstein, Elizabeth Beyer, Ian Blumenthal, Ernie M. H. F. Bongers, Eva H. Brilstra, Chester W. Brown, Hennie T. Bruggenwirth, Bert Callewaert, Colby Chiang, Ken Corning, Helen Cox, Edwin Cuppen, Benjamin B. Currall, Tom Cushing, Dezso David, Matthew A. Deardorff, Annelies Dheedene, Marc D'Hooghe, Bert B. A. de Vries, Dawn L. Earl, Heather L. Ferguson, Heather Fisher, David R. FitzPatrick, Pamela Gerrol, Daniela Giachino, Joseph T. Glessner, Troy Gliem, Margo Grady, Brett H. Graham, Cristin Griffis, Karen W. Gripp, Andrea L. Gropman, Andrea Hanson-Kahn, David J. Harris, Mark A. Hayden, Rosamund Hill, Ron Hochstenbach, Jodi D. Hoffman, Robert J. Hopkin, Monika W. Hubshman, A. Micheil Innes, Mira Irons, Melita Irving, Jessie C. Jacobsen, Sandra Janssens, Tamison Jewett, John P. Johnson, Marjolijn C. Jongmans, Stephen G. Kahler, David A. Koolen, Jerome Korzelius, Peter M. Kroisel, Yves Lacassie, William Lawless, Emmanuelle Lemyre, Kathleen Leppig, Alex V. Levin, Haibo Li, Hong Li, Eric C. Liao, Cynthia Lim, Edward J. Lose, Diane Lucente, Michael J. Macera, Poornima Manavalan, Giorgia Mandrile, Carlo L. Marcelis, Lauren Margolin, Tamara Mason, Diane Masser-Frye, Michael W. McClellan, Cinthya J. Zepeda Mendoza, Bjorn Menten, Sjors Middelkamp, Liya R. Mikami, Emily Moe, Shehla Mohammed, Tarja Mononen, Megan E. Mortenson, Graciela Moya, Aggie W. Nieuwint, Zehra Ordulu, Sandhya Parkash, Susan P. Pauker, Shahrin Pereira, Danielle Perrin, Katy Phelan, Raul E. Pina Aguilar, Pino J. Poddighe, Giulia Pregno, Salmo Raskin, Linda Reis, William Rhead, Debra Rita, Ivo Renkens, Filip Roelens, Jayla Ruliera, Patrick Rump, Samantha L. P. Schilit, Ranad Shaheen, Rebecca Sparkes, Erica Spiegel, Blair Stevens, Matthew R. Stone, Julia Tagoe, Joseph V. Thakuria, Bregje W. van Bon, Jiddeke van de Kamp, Ineke van Der Burgt, Ton van Essen, Conny M. van Ravenswaaij-Arts, Markus J. van Roosmalen, Sarah Vergult, Catharina M. L. Volker-Touw, Dorothy P. Warburton, Matthew J. Waterman, Susan Wiley, Anna Wilson, Maria de la Concepcion A. Yerena-de Vega, Roberto T. Zori, Brynn Levy, Han G. Brunner, Nicole de Leeuw, Wigard P. Kloosterman, Erik C. Thorland, Cynthia C. Morton, James F. Gusella, Michael E. Talkowski*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)36-45
Number of pages10
JournalNature Genetics
Volume49
Issue number1
DOIs
Publication statusPublished - Jan 2017

Keywords

  • AUTISM SPECTRUM DISORDER
  • DE-NOVO MUTATIONS
  • SEVERE MENTAL-RETARDATION
  • OF-FUNCTION MUTATIONS
  • MICRODELETION SYNDROME
  • CHROMOSOME REARRANGEMENTS
  • INTELLECTUAL DISABILITY
  • STRUCTURAL VARIATION
  • DEVELOPMENTAL DELAY
  • CANCER GENOMES

Cite this

Redin, C., Brand, H., Collins, R. L., Kammin, T., Mitchell, E., Hodge, J. C., Hanscom, C., Pillalamarri, V., Seabra, C. M., Abbott, M-A., Abdul-Rahman, O. A., Aberg, E., Adley, R., Alcaraz-Estrada, S. L., Alkuraya, F. S., An, Y., Anderson, M-A., Antolik, C., Anyane-Yeboa, K., ... Talkowski, M. E. (2017). The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nature Genetics, 49(1), 36-45. https://doi.org/10.1038/ng.3720