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المؤلفون: Bert Callewaert, Robert J. Hopkin, David A. Koolen, Hennie T. Brüggenwirth, Dezso David, Heather L. Ferguson, Helen Cox, Claire Redin, Joseph V. Thakuria, Ryan L. Collins, Mary-Alice Abbott, Michael E. Talkowski, Sjors Middelkamp, Michael J. Macera, Salmo Raskin, William J. Rhead, Heather Fisher, Han G. Brunner, Emmanuelle Lemyre, Margo Grady, Elyse Mitchell, Tarja Mononen, Sofia L. Alcaraz-Estrada, Cristin Griffis, Emily Moe, Samantha L.P. Schilit, Matthew J. Waterman, Colby Chiang, Aggie W. M. Nieuwint, Ivo Renkens, Joan F. Atkin, Jessie C. Jacobsen, Shehla Mohammed, Ernie M.H.F. Bongers, Maria de la Concepcion A Yerena-de Vega, Wigard P. Kloosterman, Jiddeke M. van de Kamp, Ton van Essen, Liya R Mikami, Tom Cushing, Conny M. A. van Ravenswaaij-Arts, Melita Irving, Kwame Anyane-Yeboa, Diane Masser-Frye, Catarina M. Seabra, Daniela Giachino, Bert B.A. de Vries, Brynn Levy, Caroline Antolik, Tina M. Bartell, Erika Aberg, Edwin Cuppen, Pamela Gerrol, Shahrin Pereira, Megan Mortenson, Raul Eduardo Pina Aguilar, Zehra Ordulu, Jennelle C. Hodge, Nicole de Leeuw, Troy J. Gliem, Michael W. McClellan, Sarah Vergult, Julia Tagoe, Giulia Pregno, Sandhya Parkash, David R. FitzPatrick, Giorgia Mandrile, Catharina M L Volker-Touw, Joseph T. Glessner, Danielle Perrin, Haibo Li, Peter M. Kroisel, Rhett Adley, Jodi D. Hoffman, Dorothy Warburton, Lauren Margolin, David J. Harris, Omar A. Abdul-Rahman, Ineke van der Burgt, Benjamin Currall, Monika Weisz Hubshman, Marjolijn C.J. Jongmans, Roberto T. Zori, William Lawless, Cynthia Lim, Andrea Hanson-Kahn, Vamsee Pillalamarri, Ken Corning, Tamara Mason, Yu An, Pino J. Poddighe, Susan P. Pauker, Cinthya J Zepeda Mendoza, Fowzan S. Alkuraya, Mira Irons, Sandra Janssens, Ranad Shaheen, Kathleen A. Leppig, Erica Spiegel, Chester W. Brown, Cynthia C. Morton, Filip Roelens, Ron Hochstenbach, Tamison Jewett, James F. Gusella, John P. Johnson, Brett H. Graham, Björn Menten, Annelies Dheedene, Rosamund Hill, Eva H. Brilstra, Alex V. Levin, Carlo Marcelis, Anna Wilson, A. Micheil Innes, Matthew A. Deardorff, Marc D'Hooghe, Elizabeth Beyer, Katy Phelan, Jayla Ruliera, Carrie Hanscom, Mark A. Hayden, Debra Rita, Edward J. Lose, Poornima Manavalan, Jerome Korzelius, Susan Wiley, Harrison Brand, Matthew R. Stone, Diane Lucente, Markus J. van Roosmalen, Tammy Kammin, Rebecca Sparkes, Patrick Rump, Stephen G. Kahler, Graciela Moya, Bregje W.M. van Bon, Blair Stevens, Eric C. Liao, Karen W. Gripp, Yves Lacassie, Dawn L. Earl, Erik C. Thorland, Linda M. Reis, Andrea L. Gropman, Jonathan A. Bernstein, Ian Blumenthal, Mary-Anne Anderson, Hong Li
المساهمون: Erasmus MC other, Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA Klinische Genetica (5), Human genetics, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Complex Trait Genetics, Clinical Cognitive Neuropsychiatry Research Program (CCNP)
المصدر: Nature Genetics, 49(1), 36-45. Nature Publishing Group
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, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, de Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, Macera, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Mendoza, C J Z, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Aguilar, R E P, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, van Bon, B W, van de Kamp, J, van Der Burgt, I, van Essen, T, van Ravenswaaij-Arts, C M, van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-de Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, de Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, ' The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies ', Nature Genetics, vol. 49, no. 1, pp. 36-45 . https://doi.org/10.1038/ng.3720
Nature Genetics, 49, 1, pp. 36-45
Nature Genetics, 49, 36-45
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, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, De Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, MacEra, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Zepeda Mendoza, C J, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Piña Aguilar, R E, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, Van Bon, B W, Van De Kamp, J, Van Der Burgt, I, Van Essen, T, Van Ravenswaaij-Arts, C M, Van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-De Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, De Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, ' The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies ', Nature Genetics, vol. 49, no. 1, pp. 36-45 . https://doi.org/10.1038/ng.3720
Nature Genetics, 49(1), 36–45. Nature Publishing Groupمصطلحات موضوعية: 0301 basic medicine, Male, INTELLECTUAL DISABILITY, Autism, Genome-wide association study, 030105 genetics & heredity, OF-FUNCTION MUTATIONS, balanced chromosomal abnormalities (BCAs), MEF2C, Genetics, Gene Rearrangement, Cytogenetic Abnormalities, Chromothripsis, DEVELOPMENTAL DELAY, Inversion, karyotypes, Microdeletion syndrome, Doenças Genómicas, Structural Variation, Medical genetics, Female, Topologically Associated Domain (TAD), Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Genetic Markers, medicine.medical_specialty, Human Congenital Anomalies, MICRODELETION SYNDROME, Translocation, Genomics, Biology, Article, Congenital Abnormalities, Structural variation, 03 medical and health sciences, Cytogenetics, Intellectual Disability, medicine, Journal Article, Humans, Genetic Predisposition to Disease, Chromosome Aberrations, Whole-genome sequencing, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], CHROMOSOME REARRANGEMENTS, karyotypes, balanced chromosomal abnormalities (BCAs), Whole-genome sequencing, AUTISM SPECTRUM DISORDER, CANCER GENOMES, Gene rearrangement, Balanced Chromosomal Abnormality, Doenças Genéticas, STRUCTURAL VARIATION, 030104 developmental biology, Congenital Anomaly, SEVERE MENTAL-RETARDATION, DE-NOVO MUTATIONS, Genome-Wide Association Study
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