The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
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Published:2016-11-14
Issue:1
Volume:49
Page:36-45
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ISSN:1061-4036
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Container-title:Nature Genetics
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language:en
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Short-container-title:Nat Genet
Author:
Redin Claire, Brand Harrison, Collins Ryan LORCID, Kammin Tammy, Mitchell Elyse, Hodge Jennelle C, Hanscom Carrie, Pillalamarri Vamsee, Seabra Catarina M, Abbott Mary-Alice, Abdul-Rahman Omar A, Aberg Erika, Adley Rhett, Alcaraz-Estrada Sofia L, Alkuraya Fowzan SORCID, An Yu, Anderson Mary-Anne, Antolik Caroline, Anyane-Yeboa Kwame, Atkin Joan F, Bartell Tina, Bernstein Jonathan A, Beyer Elizabeth, Blumenthal Ian, Bongers Ernie M H F, Brilstra Eva H, Brown Chester W, Brüggenwirth Hennie T, Callewaert Bert, Chiang ColbyORCID, Corning Ken, Cox Helen, Cuppen Edwin, Currall Benjamin B, Cushing Tom, David Dezso, Deardorff Matthew A, Dheedene Annelies, D'Hooghe Marc, de Vries Bert B A, Earl Dawn L, Ferguson Heather L, Fisher Heather, FitzPatrick David R, Gerrol Pamela, Giachino Daniela, Glessner Joseph T, Gliem Troy, Grady Margo, Graham Brett HORCID, Griffis Cristin, Gripp Karen W, Gropman Andrea L, Hanson-Kahn Andrea, Harris David J, Hayden Mark A, Hill Rosamund, Hochstenbach Ron, Hoffman Jodi D, Hopkin Robert J, Hubshman Monika W, Innes A Micheil, Irons Mira, Irving Melita, Jacobsen Jessie C, Janssens Sandra, Jewett Tamison, Johnson John P, Jongmans Marjolijn C, Kahler Stephen G, Koolen David A, Korzelius Jerome, Kroisel Peter M, Lacassie Yves, Lawless William, Lemyre Emmanuelle, Leppig Kathleen, Levin Alex V, Li Haibo, Li Hong, Liao Eric C, Lim Cynthia, Lose Edward J, Lucente Diane, Macera Michael J, Manavalan Poornima, Mandrile Giorgia, Marcelis Carlo L, Margolin Lauren, Mason Tamara, Masser-Frye Diane, McClellan Michael W, Mendoza Cinthya J Zepeda, Menten Björn, Middelkamp Sjors, Mikami Liya R, Moe Emily, Mohammed Shehla, Mononen Tarja, Mortenson Megan E, Moya Graciela, Nieuwint Aggie W, Ordulu Zehra, Parkash Sandhya, Pauker Susan P, Pereira Shahrin, Perrin Danielle, Phelan Katy, Aguilar Raul E Piña, Poddighe Pino J, Pregno Giulia, Raskin Salmo, Reis Linda, Rhead William, Rita Debra, Renkens Ivo, Roelens Filip, Ruliera Jayla, Rump PatrickORCID, Schilit Samantha L PORCID, Shaheen Ranad, Sparkes Rebecca, Spiegel Erica, Stevens Blair, Stone Matthew R, Tagoe Julia, Thakuria Joseph V, van Bon Bregje W, van de Kamp Jiddeke, van Der Burgt Ineke, van Essen Ton, van Ravenswaaij-Arts Conny M, van Roosmalen Markus J, Vergult SarahORCID, Volker-Touw Catharina M L, Warburton Dorothy P, Waterman Matthew J, Wiley Susan, Wilson Anna, Yerena-de Vega Maria de la Concepcion A, Zori Roberto T, Levy Brynn, Brunner Han G, de Leeuw Nicole, Kloosterman Wigard P, Thorland Erik C, Morton Cynthia CORCID, Gusella James F, Talkowski Michael E
Publisher
Springer Science and Business Media LLC
Reference87 articles.
1. Jacobs, P.A., Melville, M., Ratcliffe, S., Keay, A.J. & Syme, J. A cytogenetic survey of 11,680 newborn infants. Ann. Hum. Genet. 37, 359–376 (1974). 2. Nielsen, J. & Wohlert, M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum. Genet. 87, 81–83 (1991). 3. Ravel, C., Berthaut, I., Bresson, J.L. & Siffroi, J.P. Prevalence of chromosomal abnormalities in phenotypically normal and fertile adult males: large-scale survey of over 10,000 sperm donor karyotypes. Hum. Reprod. 21, 1484–1489 (2006). 4. Funderburk, S.J., Spence, M.A. & Sparkes, R.S. Mental retardation associated with “balanced” chromosome rearrangements. Am. J. Hum. Genet. 29, 136–141 (1977). 5. Marshall, C.R. et al. Structural variation of chromosomes in autism spectrum disorder. Am. J. Hum. Genet. 82, 477–488 (2008).
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