Cited by 399Down syndrome and intellectual disability researchGenomic variations and chromosomal abnormalitiesWilliams Syndrome Research

The DOI matches its Crossref record; 47 of the 47 references it cites were found in a registry or an index.

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

Open access

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.·2009·Proceedings of the National Academy of Sciences

DOI 10.1073/pnas.0813248106PMC PMC2709665

Open this paper in CoChat — free account

Abstract

Down syndrome (DS), or trisomy 21, is a common disorder associated with several complex clinical phenotypes. Although several hypotheses have been put forward, it is unclear as to whether particular gene loci on chromosome 21 (HSA21) are sufficient to cause DS and its associated features. Here we present a high-resolution genetic map of DS phenotypes based on an analysis of 30 subjects carrying rare segmental trisomies of various regions of HSA21. By using state-of-the-art genomics technologies we mapped segmental trisomies at exon-level resolution and identified discrete regions of 1.8–16.3 Mb likely to be involved in the development of 8 DS phenotypes, 4 of which are congenital malformations, including acute megakaryocytic leukemia, transient myeloproliferative disorder, Hirschsprung disease, duodenal stenosis, imperforate anus, severe mental retardation, DS-Alzheimer Disease, and DS-specific congenital heart disease (DSCHD). Our DS-phenotypic maps located DSCHD to a <2-Mb interval. Furthermore, the map enabled us to present evidence against the necessary involvement of other loci as well as specific hypotheses that have been put forward in relation to the etiology of DS—i.e., the presence of a single DS consensus region and the sufficiency of DSCR1 and DYRK1A , or APP , in causing several severe DS phenotypes. Our study demonstrates the value of combining advanced genomics with cohorts of rare patients for studying DS, a prototype for the role of copy-number variation in complex disease.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.1073/pnas.0813248106

Cites

47 of 47 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Global variation in copy number in the human genome
Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., Andrews, T. D., Fiegler, H., Shapero, M. H., Carson, A. R., Chen, W., et al. (2006) · Nature · doi:10.1038/nature05329 · Cited by 4,377
Detection of large-scale variation in the human genome
Iafrate, A. J., Feuk, L., Rivera, M. N., Listewnik, M. L., Donahoe, P. K., Qi, Y., Scherer, S. W., & Lee, C. (2004) · Nature Genetics · doi:10.1038/ng1416 · Cited by 2,892
Large-scale copy number polymorphism in the human genome
Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., Månér, S., Massa, H., Walker, M., Chi, M., et al. (2004) · Science · doi:10.1126/science.1098918 · Cited by 2,557
Down's syndrome
Roizen, N., & Patterson, D. (2003) · The Lancet · doi:10.1016/s0140-6736(03)12987-x · Cited by 1,386
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
Rovelet‐Lecrux, A., Hannequin, D., Raux, G., Meur, N. L., Laquerrière, A., Vital, A., Dumanchin‐Njock, C., Feuillette, S., Brice, A., Vercelletto, M., et al. (2005) · Nature Genetics · doi:10.1038/ng1718 · Cited by 1,284
Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome
Korbel, J. O., Urban, A. E., Affourtit, J. P., Godwin, B., Grubert, F., Simons, J. F., Kim, P. M., Palejev, D., Carriero, N. J., Du, L., et al. (2007) · Science · doi:10.1126/science.1149504 · Cited by 1,163
Self-citation
Down syndrome phenotypes: the consequences of chromosomal imbalance.
Korenberg, J. R., Chen, X. N., Schipper, R. D., Sun, Z., Gonsky, R., Gerwehr, S., Carpenter, N. J., Däumer, C., Dignan, P. S. J., & Distèche, C. M. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.11.4997 · Cited by 784
Self-citation
NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21
Arron, J. R., Winslow, M. M., Polleri, A., Chang, C.-P., Wu, H., Gao, X., Neilson, J. R., Chen, L., Heit, J. J., Kim, S. K., et al. (2006) · Nature · doi:10.1038/nature04678 · Cited by 698
A new non-linear normalization method for reducing variability in DNA microarray experiments
Workman, C. T., Jensen, L. J., Jarmer, H. Ø., Berka, R. M., Gautier, L., Nielsen, H. B., Saxild, H. H., Nielsen, C. H., Brunak, S., & Knudsen, S. (2002) · Genome biology · doi:10.1186/gb-2002-3-9-research0048 · Cited by 531
Molecular Mapping of Twenty-Four Features of Down Syndrome on Chromosome 21
Delabar, J. M., Theophile, D., Rahmani, Z., Chettouh, Z., Blouin, J., Prieur, M., Noel, B., & Sinet, P. (1993) · European Journal of Human Genetics · doi:10.1159/000472398 · Cited by 454

Show all 47 references

Sorted by citations

Items 101–200 of 397

All Creatures Great and Small: New Approaches for Understanding Down Syndrome Genetics
Moyer, A. J., Gardiner, K., & Reeves, R. H. (2021) · Trends in Genetics · doi:10.1016/j.tig.2020.09.017 · Cited by 49
GABAB–GIRK2-Mediated Signaling in Down Syndrome
Cramer, N., Best, T. K., Stoffel, M., Siarey, R. J., & Galdzicki, Z. (2010) · Advances in pharmacology · doi:10.1016/s1054-3589(10)58015-3 · Cited by 49
Trisomic dose of several chromosome 21 genes perturbs haematopoietic stem and progenitor cell differentiation in Down's syndrome
Vita, S. D., Canzonetta, C., Mulligan, C., Delom, F., Groet, J., Baldo, C., Vanes, L., Dagna-Bricarelli, F., Hoischen, A., Veltman, J., et al. (2010) · Oncogene · doi:10.1038/onc.2010.351 · Cited by 48
Insulin resistance, oxidative stress and mitochondrial defects in Ts65dn mice brain: a harmful synergistic path in down syndrome
Lanzillotta, C., Tramutola, A., Di Giacomo, G., Marini, F., Butterfield, D. A., Di Domenico, F., Perluigi, M., & Barone, E. (2021) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2021.01.042 · Cited by 47
Abnormal MicroRNA Expression in Ts65Dn Hippocampus and Whole Blood: Contributions to Down Syndrome Phenotypes
Keck-Wherley, J., Grover, D., Bhattacharyya, S., Xu, X., Holman, D., Lombardini, E., Verma, R., Biswas, R., & Galdzicki, Z. (2011) · Developmental Neuroscience · doi:10.1159/000330884 · Cited by 48
Human chromosome 21 orthologous region on mouse chromosome 17 is a major determinant of Down syndrome-related developmental cognitive deficits
Zhang, L., Meng, K., Jiang, X., Liu, C., Pao, A., Belichenko, P. V., Kleschevnikov, A. M., Josselyn, S. A., Liang, P., Ye, P., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt446 · Cited by 48
Protein Dynamics Associated with Failed and Rescued Learning in the Ts65Dn Mouse Model of Down Syndrome
Ahmed, M. M., Dhanasekaran, A. R., Block, A., Tong, S., Costa, A. C. S., Stasko, M. R., & Gardiner, K. (2015) · PLoS ONE · doi:10.1371/journal.pone.0119491 · Cited by 47
Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About?
Hultén, M. A., Jonasson, J., Nordgren, A., & Iwarsson, E. (2010) · Current Genomics · doi:10.2174/138920210793176056 · Cited by 45
The Amyloid Precursor Protein (APP) Triplicated Gene Impairs Neuronal Precursor Differentiation and Neurite Development through Two Different Domains in the Ts65Dn Mouse Model for Down Syndrome
Trazzi, S., Fuchs, C., Valli, E., Perini, G., Bartesaghi, R., & Ciani, E. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.m113.451088 · Cited by 46
Retracted
Molecular Mechanisms of the Genetic Predisposition to Acute Megakaryoblastic Leukemia in Infants With Down Syndrome
Grimm, J., Heckl, D., & Klusmann, J. (2021) · Frontiers in Oncology · doi:10.3389/fonc.2021.636633 · Cited by 45
Basal Forebrain Cholinergic Neurons: Linking Down Syndrome and Alzheimer’s Disease
Martinez, J. L., Zammit, M. D., West, N. R., Christian, B. T., & Bhattacharyya, A. (2021) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2021.703876 · Cited by 47
Paired Tumor and Normal Whole Genome Sequencing of Metastatic Olfactory Neuroblastoma
Weiss, G. J., Liang, W. S., Izatt, T., Arora, S., Cherni, I., Raju, R. N., Hostetter, G. H., Kurdoglu, A. A., Christoforides, A., Sinari, S. A., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0037029 · Cited by 47
Genotype-phenotype correlation for congenital heart disease in Down syndrome through analysis of partial trisomy 21 cases
Pelleri, M. C., Gennari, E., Locatelli, C., Piovesan, A., Caracausi, M., Antonaros, F., Rocca, A., Donati, C. M., Conti, L., Strippoli, P., et al. (2017) · Genomics · doi:10.1016/j.ygeno.2017.06.004 · Cited by 44
Targeting trisomic treatments: optimizing Dyrk1a inhibition to improve Down syndrome deficits
Stringer, M., Goodlett, C. R., & Roper, R. J. (2017) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.334 · Cited by 45
Challenges in studying genomic structural variant formation mechanisms: The short‐read dilemma and beyond
Onishi‐Seebacher, M., & Korbel, J. O. (2011) · BioEssays · doi:10.1002/bies.201100075 · Cited by 43
Self-citation
Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects
Priest, J. R., Girirajan, S., Vu, T. H., Olson, A. K., Eichler, E. E., & Portman, M. A. (2012) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35315 · Cited by 41
Opposite Phenotypes of Muscle Strength and Locomotor Function in Mouse Models of Partial Trisomy and Monosomy 21 for the Proximal Hspa13-App Region
Brault, V., Duchon, A., Romestaing, C., Sahún, I., Pothion, S., Karout, M., Borel, C., Dembélé, D., Bizot, J., Messaddeq, N., et al. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1005062 · Cited by 45
Consequences of chromosome gain: A new view on trisomy syndromes
Krivega, M., Stiefel, C. M., & Štorchová, Z. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.10.014 · Cited by 40
Dissecting Alzheimer disease in Down syndrome using mouse models
Choong, X. Y., Tosh, J., Pulford, L. J., & Fisher, E. (2015) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2015.00268 · Cited by 41
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21
Pelleri, M. C., Cicchini, E., Petersen, M. B., Tranebjærg, L., Mattina, T., Magini, P., Antonaros, F., Caracausi, M., Vitale, L., Locatelli, C., et al. (2019) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.797 · Cited by 40
Trisomy 21 and facial developmental instability
Starbuck, J. M., Cole, T. M., Reeves, R. H., & Richtsmeier, J. T. (2013) · American Journal of Physical Anthropology · doi:10.1002/ajpa.22255 · Cited by 39
Engineered chromosome-based genetic mapping establishes a 3.7 Mb critical genomic region for Down syndrome-associated heart defects in mice
Liu, C., Morishima, M., Jiang, X., Yu, T., Meng, K., Ray, D., Pao, A., Ye, P., Parmacek, M. S., & Yu, Y. E. (2013) · Human Genetics · doi:10.1007/s00439-013-1407-z · Cited by 38
Multi-influential genetic interactions alter behaviour and cognition through six main biological cascades in Down syndrome mouse models
Duchon, A., Moreno, M. D. M. M., Lorenzo, S. M., de Souza, M. P. S., Chevalier, C., Nalesso, V., Méziane, H., de Sousa, P. L., Noblet, V., Armspach, J., et al. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab012 · Cited by 42
Perturbations of Heart Development and Function in Cardiomyocytes from Human Embryonic Stem Cells with Trisomy 21
Bosman, A., Letourneau, A., Sartiani, L., Lungo, M. D., Ronzoni, F., Kuzyakiv, R., Töhönen, V., Zucchelli, M., Santoni, F. A., Guipponi, M., et al. (2015) · Stem Cells · doi:10.1002/stem.1961 · Cited by 37
The telomeric part of the human chromosome 21 from Cstb to Prmt2 is not necessary for the locomotor and short-term memory deficits observed in the Tc1 mouse model of Down syndrome
Duchon, A., Pothion, S., Brault, V., Sharp, A. J., Tybulewicz, V. L. J., Fisher, E., & Hérault, Y. (2010) · Behavioural Brain Research · doi:10.1016/j.bbr.2010.10.023 · Cited by 45
Inflammatory Bowel Disease Manifesting After Surgical Treatment for Hirschsprung Disease
Levin, D. N., MARCON, M. A., Rintala, R. J., Jacobson, D., & Langer, J. C. (2012) · Journal of Pediatric Gastroenterology and Nutrition · doi:10.1097/mpg.0b013e31824f617a · Cited by 36
Astrocytes in Down Syndrome Across the Lifespan
Ponroy Bally, B., & Murai, K. K. (2021) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2021.702685 · Cited by 35
Aberrant crosstalk between insulin signaling and mTOR in young Down syndrome individuals revealed by neuronal‐derived extracellular vesicles
Perluigi, M., Picca, A., Montanari, E., Calvani, R., Marini, F., Matassa, R., Tramutola, A., Villani, A., Familiari, G., Domenico, F. D., et al. (2022) · Alzheimer's & Dementia · doi:10.1002/alz.12499 · Cited by 35
Down Syndrome Preleukemia and Leukemia
Maloney, K. W., Taub, J. W., Ravindranath, Y., Roberts, I. A. G., & Vyas, P. (2014) · Pediatric Clinics of North America · doi:10.1016/j.pcl.2014.09.009 · Cited by 34
Modeling Down syndrome in animals from the early stage to the 4.0 models and next
Moreno, M. D. M. M., Brault, V., Birling, M., Pavlovic, G., & Hérault, Y. (2020) · Progress in brain research · doi:10.1016/bs.pbr.2019.08.001 · Cited by 35
APP and DYRK1A regulate axonal and synaptic vesicle protein networks and mediate Alzheimer’s pathology in trisomy 21 neurons
Wu, C.-I., Vinton, E. A., Pearse, R. V., Heo, K., Aylward, A. J., Hsieh, Y., Bi, Y., Adeleye, S., Fancher, S. B., Duong, D. M., et al. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01454-5 · Cited by 34
Caenorhabditis elegans as a model organism to study APP function
Ewald, C. Y., & Li, C. (2011) · Experimental Brain Research · doi:10.1007/s00221-011-2905-7 · Cited by 33
Aging and intellectual disability: Insights from mouse models of down syndrome
Ruparelia, A., Pearn, M. L., & Mobley, W. C. (2013) · Developmental Disabilities Research Reviews · doi:10.1002/ddrr.1127 · Cited by 37
Synaptic Pathology of Down Syndrome
Garner, C. C., & Wetmore, D. Z. (2012) · Advances in Experimental Medicine and Biology · doi:10.1007/978-3-7091-0932-8_20 · Cited by 33
Linking Cell Surface Receptors to Microtubules: Tubulin Folding Cofactor D Mediates Dscam Functions during Neuronal Morphogenesis
Okumura, M., Sakuma, C., Miura, M., & Chihara, T. (2015) · Journal of Neuroscience · doi:10.1523/jneurosci.0973-14.2015 · Cited by 32
Alzheimer‐related protein APL ‐1 modulates lifespan through heterochronic gene regulation in Caenorhabditis elegans
Ewald, C. Y., Marfil, V., & Li, C. (2016) · Aging Cell · doi:10.1111/acel.12509 · Cited by 32
A multi-level developmental approach to exploring individual differences in Down syndrome: genes, brain, behaviour, and environment
Thomas, M. S. C., Ojinaga-Alfageme, O., D’Souza, H., Patkee, P. A., Rutherford, M., Mok, K. Y., Hardy, J., & Karmiloff‐Smith, A. (2020) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2020.103638 · Cited by 32
Elevated soluble amyloid beta protofibrils in Down syndrome and Alzheimer's disease
Johannesson, M., Sahlin, C., Söderberg, L., Basun, H., Fälting, J. M., Möller, C., Zachrisson, O., Sunnemark, D., Svensson, A., Odergren, T., et al. (2021) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2021.103641 · Cited by 35
Robust Yet Fragile: Expression Noise, Protein Misfolding, and Gene Dosage in the Evolution of Genomes
Pires, J. C., & Conant, G. C. (2016) · Annual Review of Genetics · doi:10.1146/annurev-genet-120215-035400 · Cited by 33
Dysregulated systemic metabolism in a Down syndrome mouse model
Sarver, D. C., Xu, C., Vélez, L. M., Aja, S. M., Jaffe, A. E., Seldin, M. M., Reeves, R. H., & Wong, G. W. (2022) · Molecular Metabolism · doi:10.1016/j.molmet.2022.101666 · Cited by 32
Landscape of driver mutations and their clinical effects on Down syndrome–related myeloid neoplasms
Sato, T., Yoshida, K., Toki, T., Kanezaki, R., Terui, K., Saiki, R., Ojima, M., Ochi, Y., Mizuno, S., Yoshihara, M., et al. (2024) · Blood · doi:10.1182/blood.2023022247 · Cited by 31
Interferon hyperactivity impairs cardiogenesis in Down syndrome via downregulation of canonical Wnt signaling
Chi, C., Knight, W. E., Riching, A. S., Zhang, Z., Tatavosian, R., Zhuang, Y., Moldovan, R., Rachubinski, A. L., Gao, D., Xu, H., et al. (2023) · iScience · doi:10.1016/j.isci.2023.107012 · Cited by 30
Mouse-based genetic modeling and analysis of Down syndrome
Xing, Z., Li, Y., Pao, A., Bennett, A. S., Tycko, B., Mobley, W. C., & Yu, Y. E. (2016) · British Medical Bulletin · doi:10.1093/bmb/ldw040 · Cited by 32
Aging With Down Syndrome: The Dual Diagnosis: Alzheimer’s Disease and Down Syndrome
Cipriani, G., Danti, S., Carlesi, C., & Fiorino, M. D. (2018) · American Journal of Alzheimer s Disease & Other Dementias® · doi:10.1177/1533317518761093 · Cited by 32
Creatine as a Therapeutic Target in Alzheimer's Disease
Smith, A. N., Morris, J. K., Carbuhn, A. F., Herda, T. J., Keller, J. E., Sullivan, D. K., & Taylor, M. K. (2023) · Current Developments in Nutrition · doi:10.1016/j.cdnut.2023.102011 · Cited by 31
Craniofacial dysmorphology in Down syndrome is caused by increased dosage of Dyrk1a and at least three other genes
Redhead, Y. T., Gibbins, D., Lana‐Elola, E., Watson-Scales, S., Dobson, L., Krause, M., Liu, K. J., Fisher, E., Green, J. B. A., & Tybulewicz, V. L. J. (2023) · Development · doi:10.1242/dev.201077 · Cited by 32
Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease
Jannot, A., Pelet, A., Henrion‐Caude, A., Chaoui, A., Masse-Morel, M., Arnold, S. M., Sanlaville, D., Ceccherini, I., Borrego, S., Hofstra, R. M. W., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0062519 · Cited by 29
The role of chromosome 21 in hematology and oncology
Fonatsch, C. (2010) · Genes Chromosomes and Cancer · doi:10.1002/gcc.20764 · Cited by 28
Hirschsprung’s disease, Down syndrome, and missing heritability: too much collagen slows migration
Heuckeroth, R. O. (2015) · Journal of Clinical Investigation · doi:10.1172/jci85003 · Cited by 28
Pan-Neuronal Expression of APL-1, an APP-Related Protein, Disrupts Olfactory, Gustatory, and Touch Plasticity in Caenorhabditis elegans
Ewald, C. Y., Cheng, R., Tolen, L., Shah, V., Gillani, A., Nasrin, A., & Li, C. (2012) · Journal of Neuroscience · doi:10.1523/jneurosci.0495-12.2012 · Cited by 28
Congenital heart disease protein 5 associates with CASZ1 to maintain myocardial tissue integrity
Sojka, S., Amin, N. M., Gibbs, D. E., Christine, K. S., Charpentier, M. S., & Conlon, F. L. (2014) · Development · doi:10.1242/dev.106518 · Cited by 28
Assembly of non-unique insertion content using next-generation sequencing
Parrish, N., Hormozdiari, F., & Eskin, E. (2011) · BMC Bioinformatics · doi:10.1186/1471-2105-12-s6-s3 · Cited by 28
Mapping Genetically Controlled Neural Circuits of Social Behavior and Visuo-Motor Integration by a Preliminary Examination of Atypical Deletions with Williams Syndrome
Hoeft, F., Dai, L., Haas, B. W., Sheau, K. E., Mimura, M., Mills, D. L., Galaburda, A. M., Bellugi, U., Korenberg, J. R., & Reiss, A. L. (2014) · PLoS ONE · doi:10.1371/journal.pone.0104088 · Cited by 28
Self-citation
Advances in understanding the association between Down syndrome and Hirschsprung disease (DS–HSCR)
Moore, S. W. (2018) · Pediatric Surgery International · doi:10.1007/s00383-018-4344-z · Cited by 28
Genomic determinants in the phenotypic variability of Down syndrome
Letourneau, A., & Antonarakis, S. E. (2012) · Progress in brain research · doi:10.1016/b978-0-444-54299-1.00002-9 · Cited by 28
Genetic and epigenetic pathways in Down syndrome: Insights to the brain and immune system from humans and mouse models
Yu, Y. E., Xing, Z., Do, C., Pao, A., Lee, E. J., Krinsky‐McHale, S. J., Silverman, W. P., Schupf, N., & Tycko, B. (2020) · Progress in brain research · doi:10.1016/bs.pbr.2019.09.002 · Cited by 28
Child Development and Structural Variation in the Human Genome
Zhang, Y., Haraksingh, R., Grubert, F., Abyzov, A. S., Gerstein, M., Weissman, S. M., & Urban, A. E. (2013) · Child Development · doi:10.1111/cdev.12051 · Cited by 27
Self-citation
The HSA21 gene EURL/C21ORF91 controls neurogenesis within the cerebral cortex and is implicated in the pathogenesis of Down Syndrome
Li, S., Qu, Z., Haas, M., Ngo, L., Heo, Y. J., Kang, H. J., Britto, J. M., Cullen, H. D., Vanyai, H. K., Tan, S., et al. (2016) · Scientific Reports · doi:10.1038/srep29514 · Cited by 28
The impact of trisomy 21 on foetal haematopoiesis
Roberts, I. A. G., O’Connor, D., Roy, A., Cowan, G., & Vyas, P. (2013) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2013.07.008 · Cited by 26
Echocardiography in children with Down syndrome
Al-Biltagi, M. A. (2013) · World Journal of Clinical Pediatrics · doi:10.5409/wjcp.v2.i4.36 · Cited by 25
Trisomic and Allelic Differences Influence Phenotypic Variability During Development of Down Syndrome Mice
McElyea, S. D., & Roper, R. J. (2011) · Genetics · doi:10.1534/genetics.111.131391 · Cited by 25
Aneuploidy: a common and early evidence-based biomarker for carcinogens and reproductive toxicants
Mandrioli, D., Belpoggi, F., Silbergeld, E. K., & Perry, M. J. (2016) · Environmental Health · doi:10.1186/s12940-016-0180-6 · Cited by 25
Genetics and Molecular Basis of Congenital Heart Defects in Down Syndrome: Role of Extracellular Matrix Regulation
Mollo, N., Scognamiglio, R., Conti, A. M. F., Paladino, S., Nitsch, L., & Izzo, A. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24032918 · Cited by 25
β -Secretases, Alzheimer’s Disease, and Down Syndrome
Webb, R. L., & Murphy, M. P. (2012) · Current Gerontology and Geriatrics Research · doi:10.1155/2012/362839 · Cited by 26
Transcriptional and Post-Transcriptional Regulations of Amyloid-β Precursor Protein (APP) mRNA
Sato, K., Takayama, K., Hashimoto, M., & Inoue, S. (2021) · Frontiers in Aging · doi:10.3389/fragi.2021.721579 · Cited by 24
Very Low Rate of Gene Conversion in the Yeast Genome
Casola, C., Conant, G. C., & Hahn, M. W. (2012) · Molecular Biology and Evolution · doi:10.1093/molbev/mss192 · Cited by 24
Genómica del síndrome de Down
Cuéllar, S. D., Rebollar, E. Y., & Ruiz, V. D. C. (2016) · Acta Pediátrica de México · doi:10.18233/apm37no5pp289-296 · Cited by 24
Correction: Genome-Wide Copy Number Analysis Uncovers a New HSCR Gene: NRG3
Tang, C. S.-M., Cheng, G., So, M., Yip, B. H. K., Miao, X., Wong, E. H.-M., Ngan, E., Lui, V. C., Song, Y., Chan, D., et al. (2012) · PLoS Genetics · doi:10.1371/annotation/0ffda9e0-ba27-40c1-b766-df58de9083d5 · Cited by 24
Integrated Transcriptome Map Highlights Structural and Functional Aspects of the Normal Human Heart
Caracausi, M., Piovesan, A., Vitale, L., & Pelleri, M. C. (2016) · Journal of Cellular Physiology · doi:10.1002/jcp.25471 · Cited by 23
Insights from the protein interaction Universe of the multifunctional “Goldilocks” kinase DYRK1A
Ananthapadmanabhan, V., Shows, K. H., DICKINSON, A. J. G., & Litovchick, L. (2023) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2023.1277537 · Cited by 23
Modular transcriptional repertoire and MicroRNA target analyses characterize genomic dysregulation in the thymus of Down syndrome infants
Moreira‐Filho, C. A., Bando, S. Y., Bertonha, F. B., Silva, F. N., Costa, L. D. F., Ferreira, L., Furlanetto, G., Chaccur, P., Zerbini, M. C. N., & Carneiro-Sampaio, M. M. S. (2016) · Oncotarget · doi:10.18632/oncotarget.7120 · Cited by 23
Rodent Modeling of Alzheimer's Disease in Down Syndrome: In vivo and ex vivo Approaches
Farrell, C., Mumford, P., & Wiseman, F. K. (2022) · Frontiers in Neuroscience · doi:10.3389/fnins.2022.909669 · Cited by 22
A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype
Papoulidis, I., Papageorgiou, E., Siomou, E., Oikonomidou, E., Thomaidis, L., Vetro, A., Zuffardi, O., Liehr, T., Manolakos, E., & Vassilis, P. (2013) · Gene · doi:10.1016/j.gene.2013.11.078 · Cited by 22
Maternal antibodies facilitate Amyloid-β clearance by activating Fc-receptor-Syk-mediated phagocytosis
Illouz, T., Nicola, R., Ben-Shushan, L., Madar, R., Biragyn, A., & Okun, E. (2021) · Communications Biology · doi:10.1038/s42003-021-01851-6 · Cited by 21
Educational paper
Kersseboom, R., Brooks, A., & Weemaes, C. M. R. (2011) · European Journal of Pediatrics · doi:10.1007/s00431-011-1396-7 · Cited by 21
Cognition and Hippocampal Plasticity in the Mouse Is Altered by Monosomy of a Genomic Region Implicated in Down Syndrome
Sahún, I., Maréchal, D., Pereira, P. L., Nalesso, V., Gruart, A., García, J. M. D., Antonarakis, S. E., Dierssen, M., & Hérault, Y. (2014) · Genetics · doi:10.1534/genetics.114.165241 · Cited by 25
Rectal Biopsy in Children with down Syndrome and Chronic Constipation: Hirschsprung Disease vs Non-Hirschsprung Disease
Yin, H. J., Boyd, T., Pacheco, M. C., Schonfeld, D. J., & Bove, K. E. (2011) · Pediatric and Developmental Pathology · doi:10.2350/11-01-0957-oa.1 · Cited by 21
A Single, Shared Triploidy in Three Species of Parasitic Nematodes
Schoonmaker, A. N., Hao, Y., Bird, D. M., & Conant, G. C. (2019) · G3 Genes Genomes Genetics · doi:10.1534/g3.119.400650 · Cited by 20
Modeling Down syndrome in cells: From stem cells to organoids
Gough, G., O’Brien, N. L., Alić, I., Goh, P. A., Yeap, Y. J., Groet, J., Nižetić, D., & Murray, A. (2019) · Progress in brain research · doi:10.1016/bs.pbr.2019.10.003 · Cited by 21
Normal levels of KIF5 but reduced KLC1 levels in both Alzheimer disease and Alzheimer disease in Down syndrome: evidence suggesting defects in anterograde transport
Chen, X., Das, U., Park, G., & Mobley, W. C. (2021) · Alzheimer s Research & Therapy · doi:10.1186/s13195-021-00796-6 · Cited by 20
Self-citation
The Use of Mouse Models for Understanding the Biology of Down Syndrome and Aging
Vacano, G. N., Duval, N., & Patterson, D. W. (2012) · Current Gerontology and Geriatrics Research · doi:10.1155/2012/717315 · Cited by 26
Aurea Mediocritas: The Importance of a Balanced GenomePreprint
Varetti, G., Pellman, D. S., & Gordon, D. J. (2014) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a015842 · Cited by 22
Deletion of a single-copy DAAM1 gene in congenital heart defect: a case report
Bao, B., Zhang, L., Hu, H., Yin, S., & Liang, Z. (2012) · BMC Medical Genetics · doi:10.1186/1471-2350-13-63 · Cited by 19
Down syndrome mouse models have an abnormal enteric nervous system
Schill, E. M., Wright, C. M., Jamil, A., LaCombe, J., Roper, R. J., & Heuckeroth, R. O. (2019) · JCI Insight · doi:10.1172/jci.insight.124510 · Cited by 19
Concise Review: New Paradigms for Down Syndrome Research Using Induced Pluripotent Stem Cells: Tackling Complex Human Genetic Disease
Briggs, J., Mason, E. A., Ovchinnikov, D. A., Wells, C. A., & Wolvetang, E. J. (2013) · Stem Cells Translational Medicine · doi:10.5966/sctm.2012-0117 · Cited by 20
The Role of Oxidative Stress in Trisomy 21 Phenotype
Buczyńska, A., Sidorkiewicz, I., Kretowski, A. J., & Zbucka-Krętowska, M. (2023) · Cellular and Molecular Neurobiology · doi:10.1007/s10571-023-01417-6 · Cited by 21
Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA
Rohrlach, A. B., Rivollat, M., Ibáñez, M. P. D. M., Nordfors, U., Liira, A.-M., Teixeira, J. C., Roca‐Rada, X., Martija, J. A., Boyadzhiev, K., Boyadzhiev, Y., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-45438-1 · Cited by 24
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes
Cegli, R. D., Romito, A., Iacobacci, S., Mao, L., Lauria, M., Fedele, A. O., Klose, J., Borel, C., Descombes, P., Antonarakis, S. E., et al. (2010) · Genome biology · doi:10.1186/gb-2010-11-6-r64 · Cited by 18
Therapeutics for mitochondrial dysfunction-linked diseases in Down syndrome
Ganguly, B. B., & Kadam, N. N. (2022) · Mitochondrion · doi:10.1016/j.mito.2022.11.003 · Cited by 18
Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association
Pelleri, M. C., Locatelli, C., Mattina, T., Bonaglia, M. C., Piazza, F., Magini, P., Antonaros, F., Ramacieri, G., Vione, B., Vitale, L., et al. (2022) · BMC Medical Genomics · doi:10.1186/s12920-022-01422-6 · Cited by 17
Overexpression screen of chromosome 21 genes reveals modulators of Sonic hedgehog signaling relevant to Down syndrome
Moyer, A. J., Fernandez, F., Li, Y., Klinedinst, D. K., Florea, L., Kazuki, Y., Oshimura, M., & Reeves, R. H. (2023) · Disease Models & Mechanisms · doi:10.1242/dmm.049712 · Cited by 18
Epigenomic signature of major congenital heart defects in newborns with Down syndrome
Mouat, J. S., Li, S., Myint, S. S., Laufer, B. I., Lupo, P. J., Schraw, J. M., Woodhouse, J. P., de Smith, A. J., & LaSalle, J. M. (2023) · Human Genomics · doi:10.1186/s40246-023-00540-1 · Cited by 17
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22
Melis, D., Genesio, R., Cappuccio, G., MariaGinocchio, V., Casa, R. D., Menna, G., Buffardi, S., Poggi, V., Leszle, A., Imperati, F., et al. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33976 · Cited by 17
Internal tandem duplication of FLT3 deregulates proliferation and differentiation and confers resistance to the FLT3 inhibitor AC220 by Up-regulating RUNX1 expression in hematopoietic cells
Hirade, T., Abe, M., Onishi, C., Taketani, T., Yamaguchi, S., & Fukuda, S. (2015) · International Journal of Hematology · doi:10.1007/s12185-015-1908-8 · Cited by 18
Partial trisomy and tetrasomy of chromosome 21 without Down Syndrome phenotype and short overview of genotype-phenotype correlation. A case report
Čapková, P., Misovicova, N., & Vrbicka, D. (2013) · Biomedical Papers · doi:10.5507/bp.2013.077 · Cited by 17
Dosage of the Abcg1-U2af1 Region Modifies Locomotor and Cognitive Deficits Observed in the Tc1 Mouse Model of Down Syndrome
Maréchal, D., Pereira, P. L., Duchon, A., & Hérault, Y. (2015) · PLoS ONE · doi:10.1371/journal.pone.0115302 · Cited by 21
Chromosomal Syndromes
Shiang, R. (2014) · Atlas of the Oral and Maxillofacial Surgery Clinics · doi:10.1016/j.cxom.2014.05.003 · Cited by 17
Genetics and genomics of Down syndrome
Strippoli, P., Pelleri, M. C., Piovesan, A., Caracausi, M., Antonaros, F., & Vitale, L. (2019) · International review of research in developmental disabilities · doi:10.1016/bs.irrdd.2019.06.001 · Cited by 17
Lowering levels of reelin in entorhinal cortex layer II-neurons results in lowered levels of intracellular amyloid-β
Kobro‐Flatmoen, A., Battistin, C., Nair, R. R., Bjorkli, C., Skender, B., Kentros, C. G., Gouras, G. K., & Witter, M. P. (2023) · Brain Communications · doi:10.1093/braincomms/fcad115 · Cited by 17
Form of dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1A nonphosphorylated at tyrosine 145 and 147 is enriched in the nuclei of astroglial cells, adult hippocampal progenitors, and some cholinergic axon terminals.
Kida, E., Walus, M., Jarząbek, K., Palminiello, S., Albertini, G., Rabe, A., Hwang, Y., & Gołabek, A. (2011) · Neuroscience · doi:10.1016/j.neuroscience.2011.08.028 · Cited by 15

Authors: Korbel, J. O., Tirosh-Wagner, T., Urban, A. E., Chen, X.-N., Kasowski, M., Dai, L., Grubert, F., Erdman, C., Gao, M. C., Lange, K., Sobel, E. M., Barlow, G. M., Aylsworth, A. S., Carpenter, N. J., Clark, R. D., Cohen, M. Y., Doran, E., Falik-Zaccai, T., Lewin, S. O., Lott, I. T., McGillivray, B. C., Moeschler, J. B., Pettenati, M. J., Pueschel, S. M., Rao, K. W., Shaffer, L. G., Shohat, M., Van Riper, A. J., Warburton, D., Weissman, S., Gerstein, M. B., Snyder, M., & Korenberg, J. R.
Affiliations: European Bioinformatics Institute (GB)
Medical Genetics Institute, Cedars–Sinai Medical Center, Los Angeles, CA 90048;
Yale University (US)
Cedars-Sinai Medical Center (US)
University of California, Los Angeles (US)
University of North Carolina at Chapel Hill (US)
Center for Genetic Testing, Tulsa, OK 74136;
Loma Linda University Medical Center (US)
Department of Genetics, Kinderzentrum Munich, 81377 Munich, Germany;
University of California, Irvine Medical Center (US)
Institute of Human Genetics, Western Galilee Hospital, Nahariya 22100, Israel;
University of Utah (US)
University of British Columbia (CA)
Dartmouth–Hitchcock Medical Center (US)
Wake Forest University Health Sciences (US)
Rhode Island Hospital (US)
Signature Genomic Laboratories, Spokane, WA 99207;
Tel Aviv University (IL)
Genetics Department, Kaiser Permanente Medical Offices, Sacramento, CA 95815;
Columbia University (US)
ORCID: Korbel, Jan O.
Urban, Alexander Eckehart
Kasowski, Maya
Dai, Li
Gao, Michael C.
Sobel, Eric M.
Barlow, Gillian M.
Clark, Robin Dawn
Lott, Ira T.
McGillivray, Barbara C.
Shaffer, Lisa G.
Gerstein, Mark B.
Snyder, Michael
Korenberg, Julie R.
Venue: Proceedings of the National Academy of Sciences
Publisher: National Academy of Sciences
Published: 2009-07-21
Volume: 106
Issue: 29
Pages: 12031-12036
ISSN: 0027-8424 (ISSN-L)
1091-6490
DOI: 10.1073/pnas.0813248106
PMC: PMC2709665
OpenAlex: W1964683842
Cited by: 399
References: 47
Citations by year: 2026: 11 · 2025: 16 · 2024: 16 · 2023: 20 · 2022: 22 · 2021: 27 · 2020: 24 · 2019: 21 · 2018: 11 · 2017: 14 · 2016: 26 · 2015: 28 · 2014: 28 · 2013: 30 · 2012: 38
FWCI: 34.96
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: Proceedings of the National Academy of Sciences (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Carolina Digital Repository (University of North Carolina at Chapel Hill) (submittedVersion)
UNC Libraries
Funders: U.S. Department of Energy
European Commission
National Institutes of Health
National Institute of General Medical Sciences (T32GM007205)
Topics: Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
Keywords: Down syndrome, chromosome 21, gene mapping, copy number variation, congenital heart disease, Hirschsprung disease, duodenal stenosis, acute megakaryoblastic leukemia, transient myeloproliferative disorder, intellectual disability, Alzheimer's disease, DSCR1, DYRK1A, APP, etiology
MeSH terms: Chromosome Mapping, Chromosomes, Human, Pair 21, Down Syndrome, Humans, Infant, Phenotype, Trisomy, Meta-Analysis as Topic

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks