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

Global variation in copy number in the human genome

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Detection of large-scale variation in the human genome

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Large-scale copy number polymorphism in the human genome

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Down's syndrome

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APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

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Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome

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Down syndrome phenotypes: the consequences of chromosomal imbalance.

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NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21

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A new non-linear normalization method for reducing variability in DNA microarray experiments

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Molecular Mapping of Twenty-Four Features of Down Syndrome on Chromosome 21

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Meeting at the crossroads: common mechanisms in Fragile X and Down syndrome

Chang, K. T., Ro, H., Wang, W., & Min, K. (2013) · Trends in Neurosciences · doi:10.1016/j.tins.2013.08.007 · Cited by 17

SNP and gene networks construction and analysis from classification of copy number variations data

Liu, Y., Lee, Y. F., & Ng, M. K. (2011) · BMC Bioinformatics · doi:10.1186/1471-2105-12-s5-s4 · Cited by 16

A novel mouse model for Down syndrome that harbor a single copy of human artificial chromosome (HAC) carrying a limited number of genes from human chromosome 21

Miyamoto, K., Suzuki, N., Sakai, K., Asakawa, S., Okazaki, T., Kudoh, J., Ikeno, M., & Shimizu, N. (2013) · Transgenic Research · doi:10.1007/s11248-013-9772-x · Cited by 16

A meta-commentary on the proposal for a meta-structure for DSM-V and ICD-11

Jablensky, A. V. (2009) · Psychological Medicine · doi:10.1017/s0033291709991292 · Cited by 16

Down syndrome and the molecular pathogenesis resulting from trisomy of human chromosome 21

Ruparelia, A., Wiseman, F. K., Sheppard, O., Tybulewicz, V. L. J., & Fisher, E. (2010) · Journal of Biomedical Research · doi:10.1016/s1674-8301(10)60016-4 · Cited by 17

Myocardial reprogramming by HMGN1 underlies heart defects in trisomy 21

Ranade, S. S., Li, F., Whalen, S., Pelonero, A., Ye, L., Huang, Y., Brand, A., Nishino, T., Mital, R., Boileau, R. M., et al. (2025) · Nature · doi:10.1038/s41586-025-09593-9 · Cited by 17

Widespread cerebellar transcriptome changes in Ts65Dn Down syndrome mouse model after lifelong running

Walus, M., Kida, E., Rabe, A., Albertini, G., & Golabek, A. A. (2015) · Behavioural Brain Research · doi:10.1016/j.bbr.2015.08.015 · Cited by 16

Synergistic roles of DYRK1A and GATA1 in trisomy 21 megakaryopoiesis

Sit, Y. T., Takasaki, K., An, H. H., Xiao, Y., Hurtz, C., Gearhart, P. A., Zhang, Z., Gadue, P. J., French, D. L., & Chou, S. T. (2023) · JCI Insight · doi:10.1172/jci.insight.172851 · Cited by 15

Transcriptional Impact of Rare and Private Copy Number Variants in Hypoplastic Left Heart Syndrome

Glidewell, S. C., Miyamoto, S. D., Grossfeld, P., Clouthier, D. E., Coldren, C. D., Stearman, R. S., & Geraci, M. W. (2015) · Clinical and Translational Science · doi:10.1111/cts.12340 · Cited by 15

Chronic up-regulation of the SHH pathway normalizes some developmental effects of trisomy in Ts65Dn mice

Dutka, T., Hallberg, D. L., & Reeves, R. H. (2014) · Mechanisms of Development · doi:10.1016/j.mod.2014.11.004 · Cited by 15

Down syndrome: A curative prospect?

Rondal, J. A. (2020) · AIMS neuroscience · doi:10.3934/neuroscience.2020012 · Cited by 14

Triple play of DYRK1A kinase in cortical progenitor cells of Trisomy 21

Kurabayashi, N., Nguyen, M. D., & Sanada, K. (2018) · Neuroscience Research · doi:10.1016/j.neures.2018.09.007 · Cited by 15

Novedades en cardiología pediátrica, cardiopatías congénitas del adulto y cirugía cardiaca de cardiopatías congénitas

Garcı́a-Guereta, L., Benito, F., Portela, F., & Caffarena, J. M. (2010) · Revista Española de Cardiología · doi:10.1016/s0300-8932(10)70138-x · Cited by 14

Down syndrome-associated leukaemias: current evidence and challenges

Mason, N., Cahill, H., Diamond, Y., McCleary, K., Kotecha, R. S., Marshall, G. M., & Mateos, M. K. (2024) · Therapeutic Advances in Hematology · doi:10.1177/20406207241257901 · Cited by 14

What can we learn from study of Alzheimer's disease in patients with Down syndrome for early-onset Alzheimer's disease in the general population?

Wallace, R. A., & Dalton, A. J. (2011) · Alzheimer s Research & Therapy · doi:10.1186/alzrt72 · Cited by 14

Structural Characterization of the Highly Restricted Down Syndrome Critical Region on 21q22.13: New KCNJ6 and DSCR4 Transcript Isoforms

Antonaros, F., Pitocco, M., Abete, D., Vione, B., Piovesan, A., Vitale, L., Strippoli, P., Caracausi, M., & Pelleri, M. C. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.770359 · Cited by 14

Psychosocial Risk Factors for Alzheimer’s Disease in Patients with Down Syndrome and Their Association with Brain Changes: A Narrative Review

Hamadelseed, O., Elkhidir, I., & Skutella, T. (2022) · Neurology and Therapy · doi:10.1007/s40120-022-00361-9 · Cited by 16

Placental transcriptomes in the common aneuploidies reveal critical regions on the trisomic chromosomes and genome‐wide effects

Bianco, K., Gormley, M. J., Farrell, J., Zhou, Y., Oliverio, O., Tilden, H., McMaster, M., & Fisher, S. J. (2016) · Prenatal Diagnosis · doi:10.1002/pd.4862 · Cited by 16

C21orf91 Regulates Oligodendroglial Precursor Cell Fate—A Switch in the Glial Lineage?

Reiche, L., Göttle, P., Lane, L., Duek, P. D., Park, M., Azim, K., Schütte, J., Manousi, A., Schira‐Heinen, J., & Küry, P. (2021) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2021.653075 · Cited by 17

Down syndrome and leukemia: An insight into the disease biology and current treatment options

Barwe, S. P., Kolb, E. A., & Gopalakrishnapillai, A. (2023) · Blood Reviews · doi:10.1016/j.blre.2023.101154 · Cited by 13

The typical and atypical developing mind: a common model

Δημητρίου, Α., Spanoudis, G. C., & Papadopoulos, T. C. (2024) · Development and Psychopathology · doi:10.1017/s0954579424000944 · Cited by 15

Genetic Background Influences Severity of Colonic Aganglionosis and Response to GDNF Enemas in the Holstein Mouse Model of Hirschsprung Disease

Soret, R., Lassoued, N., Bonnamour, G., Bernas, G., Barbe, A., Pelletier, M., Aichi, M., & Pilon, N. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms222313140 · Cited by 13

Opportunities and Limitations of Modelling Alzheimer’s Disease with Induced Pluripotent Stem Cells

Ovchinnikov, D. A., & Wolvetang, E. J. (2014) · Journal of Clinical Medicine · doi:10.3390/jcm3041357 · Cited by 13

Surveying the Down syndrome mouse model resource identifies critical regions responsible for chronic otitis media

Bhutta, M. F., Cheeseman, M. T., Hérault, Y., Yu, Y. E., & Brown, S. D. M. (2013) · Mammalian Genome · doi:10.1007/s00335-013-9475-x · Cited by 13

A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype

Weisfeld‐Adams, J. D., Tkachuk, A. K., Maclean, K. N., Meeks, N. J. L., & Scott, S. A. (2016) · npj Genomic Medicine · doi:10.1038/npjgenmed.2016.3 · Cited by 14

Noninvasive Prenatal Screening of Fetal Aneuploidy without Massively Parallel Sequencing

Xu, C., Wang, T., Liu, C., Li, H., Chen, X., Zhu, H., Chen, S., Xin, Q., Tao, J., Huang, L., et al. (2017) · Clinical Chemistry · doi:10.1373/clinchem.2016.266247 · Cited by 13

Treatment of Epilepsy Associated with Common Chromosomal Developmental Diseases

Budișteanu, M., Jurcă, M. C., Papuc, S. M., Focșa, I. O., Riga, D., Riga, S., Jurcă, A. D., & Arghir, A. (2020) · Open Life Sciences · doi:10.1515/biol-2020-0003 · Cited by 12

Bilingualism in children with a dual diagnosis of Down syndrome and Autism Spectrum Disorder

Ward, R. A., & Sanoudaki, E. (2020) · Clinical Linguistics & Phonetics · doi:10.1080/02699206.2020.1818288 · Cited by 12

Profile of down syndrome–associated malignancies: Epidemiology, clinical features and therapeutic aspects

Shimada, A. (2021) · Pediatric Hematology Oncology Journal · doi:10.1016/j.phoj.2021.01.001 · Cited by 12

Shaking up the silence: consequences of HMGN1 antagonizing PRC2 in the Down syndrome brain

Farley, S. J., Grishok, A., & Zeldich, E. (2022) · Epigenetics & Chromatin · doi:10.1186/s13072-022-00471-6 · Cited by 13

SON inhibits megakaryocytic differentiation via repressing RUNX1 and the megakaryocytic gene expression program in acute megakaryoblastic leukemia

Vukadin, L., Kim, J., Park, E. Y., Stone, J. K., Ungerleider, N., Baddoo, M., Kong, H. K., Richard, A., Tran, J., Giannini, H. K., et al. (2020) · Cancer Gene Therapy · doi:10.1038/s41417-020-00262-9 · Cited by 12

Implications of copy number variation in people with chromosomal abnormalities: potential for greater variation in copy number state may contribute to variability of phenotype

de Smith, A. J., Trewick, A. L., & Blakemore, A. I. F. (2010) · The HUGO Journal · doi:10.1007/s11568-010-9144-z · Cited by 12

Down syndrome: from the age of characterization to the era of curative approach

Ganguly, B. B., & Kadam, N. N. (2016) · The Nucleus · doi:10.1007/s13237-016-0187-y · Cited by 11

Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome

Imaizumi, T., Yamamoto‐Shimojima, K., Yanagishita, T., Ondo, Y., Nishi, E., Okamoto, N., & Yamamoto, T. (2020) · Human Genetics · doi:10.1007/s00439-020-02196-6 · Cited by 11

Association Analysis of Variants of DSCAM and BACE2 With Hirschsprung Disease Susceptibility in Han Chinese and Functional Evaluation in Zebrafish

Lu, Y.-J., Yu, W., Cui, M., Yu, X., Song, H.-L., Bai, M.-R., Wu, W., Gu, B.-L., Wang, J., Cai, W., et al. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.641152 · Cited by 11

Etiopathological aspects of achalasia: lessons learned with Hirschsprung's disease

Gockel, H. R., Gockel, I., Schimanski, C. C., Schier, F., Schumacher, J., Nöthen, M. M., Lang, H., Müller, M., Eckardt, A. J., & Eckardt, V. F. (2011) · Diseases of the Esophagus · doi:10.1111/j.1442-2050.2011.01277.x · Cited by 11

Genetic analysis of Down syndrome facilitated by mouse chromosome engineering

Zhang, L., Fu, D., Belichenko, P. V., Liu, C., Kleschevnikov, A. M., Pao, A., Liang, P., Clapcote, S. J., Mobley, W. C., & Yu, Y. E. (2012) · Bioengineered · doi:10.4161/bbug.3.1.17696 · Cited by 11

Signal persistence and amplification in cancer development and possible, related opportunities for novel therapies

Ford, S. A., & Blanck, G. (2014) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/j.bbcan.2014.11.001 · Cited by 11

Concise Review: Methods and Cell Types Used to Generate Down Syndrome Induced Pluripotent Stem Cells

Hibaoui, Y., & Féki, A. (2015) · Journal of Clinical Medicine · doi:10.3390/jcm4040696 · Cited by 11

Amplified segment in the ‘Down Syndrome critical region’ on HSA21 shared between Down syndrome and euploid AML‐M0 excludes RUNX1, ERG and ETS2

Canzonetta, C., Hoischen, A., Giarin, E., Basso, G., Veltman, J. A., Nacheva, E. P., Nižetić, D., & Groet, J. (2012) · British Journal of Haematology · doi:10.1111/j.1365-2141.2011.08985.x · Cited by 11

Down Syndrome

Caban‐Holt, A., Head, E., & Schmitt, F. A. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-410529-4.00015-2 · Cited by 11

Fish oil improves gene targets of Down syndrome in C57BL and BALB/c mice

Zmijewski, P. A., Gao, L. Y., Saxena, A. R., Chavannes, N. K., Hushmendy, S. F., Bhoiwala, D. L., & Crawford, D. R. (2015) · Nutrition Research · doi:10.1016/j.nutres.2015.02.007 · Cited by 11

Sex-specific developmental alterations in DYRK1A expression in the brain of a Down syndrome mouse model

Hawley, L. E., Stringer, M., Deal, A. J., Folz, A., Goodlett, C. R., & Roper, R. J. (2024) · Neurobiology of Disease · doi:10.1016/j.nbd.2023.106359 · Cited by 10

Activity-Dependent Phosphorylation of Dynamin 1 at Serine 857

Xie, W. Q., Adayev, T., Zhu, H., Węgiel, J., Wieraszko, A., & Hwang, Y. (2012) · Biochemistry · doi:10.1021/bi2017798 · Cited by 10

Generation of improved human cerebral organoids from single copy DYRK1A knockout induced pluripotent stem cells in trisomy 21: hypothetical solutions for neurodevelopmental models and therapeutic alternatives in down syndrome

Çağlayan, E. (2016) · Cell Biology International · doi:10.1002/cbin.10694 · Cited by 10

Cascading Genetic and Environmental Effects on Development: Implications for Intervention

Massand, E., & Karmiloff‐Smith, A. (2015) · Wiley eBooks · doi:10.1002/9781118524947.ch12 · Cited by 10

Some assembly required: evolutionary and systems perspectives on the mammalian reproductive system

Mordhorst, B. R., Wilson, M., & Conant, G. C. (2015) · Cell and Tissue Research · doi:10.1007/s00441-015-2257-x · Cited by 9

Support vector machine learning and diffusion-derived structural networks predict amyloid quantity and cognition in adults with Down's syndrome

Brown, S. S. G., Mak, E., Clare, I. C. H., Grigorova, M., Beresford‐Webb, J., Walpert, M., Jones, E., Hong, Y. T., Fryer, T. D., Coles, J., et al. (2022) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2022.02.013 · Cited by 9

Screening key genes associated with congenital heart defects in Down syndrome based on differential expression network.

Yu, S., Yi, H., Wang, Z., & Dong, J. (2015) · PubMed Central · Cited by 9

Linking chromosome abnormality and copy number variation

Cody, J. D., & Hale, D. E. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33849 · Cited by 9

Trisomie 21 : 50 ans entre médecine et science

TURLEAU, C., & Vekemans, M. J. J. (2010) · médecine/sciences · doi:10.1051/medsci/2010263267 · Cited by 9

A rare de novo duplication of chromosome 21q22.12 → q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization

Qi, Q., Zhou, X., Jiang, Y., Hao, N., Zhou, J., & Zhang, L. (2013) · Molecular Cytogenetics · doi:10.1186/1755-8166-6-11 · Cited by 9

Genome reassembly with high-throughput sequencing data

Parrish, N., Sudakov, B., & Eskin, E. (2013) · BMC Genomics · doi:10.1186/1471-2164-14-s1-s8 · Cited by 9

Inter-Dependent Mechanisms Behind Cognitive Dysfunction, Vascular Biology and Alzheimer's Dementia in Down Syndrome: Multi-Faceted Roles of APP

Nižetić, D., Chen, C., Hong, W., & Koo, E. H. (2015) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2015.00299 · Cited by 9

Influence of allelic differences in Down syndrome

Roper, R. J., Hawley, L. E., & Goodlett, C. R. (2020) · Progress in brain research · doi:10.1016/bs.pbr.2019.09.001 · Cited by 9

Assembly of Non-Unique Insertion Content Using Next-Generation Sequencing

Parrish, N., Hormozdiari, F., & Eskin, E. (2014) · Apple Academic Press eBooks · doi:10.1201/b16589-4 · Cited by 9

CLOVE: classification of genomic fusions into structural variation events

Schröder, J., Wirawan, A., Schmidt, B., & Papenfuss, A. T. (2017) · BMC Bioinformatics · doi:10.1186/s12859-017-1760-3 · Cited by 9

The Molecular Genetics of Trisomy 18: Phenotype–Genotype Correlations

Peron, A., & Carey, J. C. (2014) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0025246 · Cited by 9

Ripply3 overdosage induces mid-face shortening through Tbx1 downregulation in Down syndrome models

Saavedra, J. T. A., Chevalier, C., Bloch‐Zupan, A., & Hérault, Y. (2025) · PLoS Genetics · doi:10.1371/journal.pgen.1011873 · Cited by 10

Neurocognitive abilities in individuals with Down syndrome-a narrative review

Jafri, S. K., & Harman, K. E. (2020) · The Turkish Journal of Pediatrics · doi:10.24953/turkjped.2020.06.001 · Cited by 9

Down’s Syndrome and Triple Negative Breast Cancer: A Rare Occurrence of Distinctive Clinical Relationship

Dey, N., Krie, A. K., Klein, J., Williams, K. A., McMillan, A., Elsey, R. J., Sun, Y., Williams, C. B., De, P. K., & Leyland-Jones, B. R. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18061218 · Cited by 8

Down syndrome iPSC model: endothelial perspective on tumor development

Perepitchka, M., Galat, Y., Beletsky, I. P., Iannaccone, P. M., & Galat, V. (2020) · Oncotarget · doi:10.18632/oncotarget.27712 · Cited by 8

Hirschsprung’s disease in the neurologically challenged child

Moore, S. W., & Tshifularo, N. (2011) · International Journal of Adolescent Medicine and Health · doi:10.1515/ijamh.2011.048 · Cited by 8

Congenital Anomalies and Genetic Associations in Hirschsprung’s Disease

Moore, S. W. (2007) · Springer eBooks · doi:10.1007/978-3-540-33935-9_9 · Cited by 8

The Drosophila homolog of APP promotes Dscam expression to drive axon terminal growth, revealing interaction between Down syndrome genes

Pizzano, S., Sterne, G. R., Veling, M. W., Xu, L. A., Hergenreder, T., & Ye, B. (2023) · Disease Models & Mechanisms · doi:10.1242/dmm.049725 · Cited by 7

The role of Down syndrome cell adhesion molecule in Down syndrome

Hergenreder, T., Yang, T., & Ye, B. (2024) · Medical Review · doi:10.1515/mr-2023-0056 · Cited by 7

Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies

Aleksiūnienė, B., Matulevičiūtė, R., Matulevičienė, A., Burnytė, B., Krasovskaja, N., Ambrozaitytė, L., Mikštienė, V., Dirsė, V., Utkus, A., & Kučinskas, V. (2017) · Medicine · doi:10.1097/md.0000000000006521 · Cited by 7

Dscam1 overexpression impairs the function of the gut nervous system in Drosophila

Hernández, K., Godoy, L., Newquist, G., Kellermeyer, R., Alavi, M. M., Mathew, D., & Kidd, T. (2022) · Developmental Dynamics · doi:10.1002/dvdy.554 · Cited by 7

Brain plasticity and environmental enrichment in Ts65Dn mice, an animal model for Down syndrome

Golabek, A. A., Jarząbek, K., Palminiello, S., Walus, M., Rabe, A., Albertini, G., & Kida, E. (2011) · Cambridge University Press eBooks · doi:10.1017/cbo9780511919299.006 · Cited by 7

The use of mobile devices to support daily routines of teens with Down syndrome

Reis, S., & Almeida, A. M. (2016) · International Conference on Software Development and Technologies for Enhancing Accessibility and Fighting Info-exclusion (DSAI) · doi:10.1145/3019943.3019966 · Cited by 7

Context Fear Conditioning in Down Syndrome Mouse Models: Effects of Trisomic Gene Content, Age, Sex and Genetic Background

Ahmed, M. M., Block, A., Busquet, N., & Gardiner, K. (2021) · Genes · doi:10.3390/genes12101528 · Cited by 8

Sex Differences in Protein Expression and Their Perturbations in Amniotic Fluid Cells of Down Syndrome Fetuses

Liu, Y., Zhang, X., Zhang, L., Zhu, H., Chen, J., Lin, Z., Zhou, B., Liu, S., Wang, H., & Sun, H. (2022) · ACS Omega · doi:10.1021/acsomega.2c05152 · Cited by 6

Neurological and neurodevelopmental manifestations in children and adolescents with Down syndrome

Baumer, N., & O’Neill, M. E. (2022) · International review of research in developmental disabilities · doi:10.1016/bs.irrdd.2022.09.004 · Cited by 7

Chromosomal and cellular therapeutic approaches for Down syndrome: A research update

Huang, T., Fakurazi, S., Cheah, P.-S., & Ling, K. (2024) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2024.150664 · Cited by 6

Transient myeloproliferative disorder with partial trisomy 21

Takahashi, T., Inoue, A., Yoshimoto, J., Kanamitsu, K., Taki, T., Imada, M., Yamada, M., Ninomiya, S., Toki, T., Terui, K., et al. (2015) · Pediatric Blood & Cancer · doi:10.1002/pbc.25624 · Cited by 6

A patient with Down syndrome with a de novo derivative chromosome 21

Çetin, Z., Yakut, S., Mıhçı, E., Manguoğlu, A. E., Berker, S., Keser, İ., & Lüleci, G. (2012) · Gene · doi:10.1016/j.gene.2012.07.018 · Cited by 6

ZBTB21 suppresses CRE-mediated transcription to impair synaptic function in Down syndrome

Qiao, M., Huang, Q. Q., Wang, X., & Han, J. (2024) · Science Advances · doi:10.1126/sciadv.adm7373 · Cited by 6

PET‐measured amyloid beta accumulates at an accelerated rate in Down syndrome compared to neurotypical populations

McVea, A. K., DiFilippo, A. H., McLachlan, M., Betcher, B., Zammit, M. D., Betthauser, T. J., Converse, A. K., Murali, D., Stone, C. K., Hartley, S. L., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70357 · Cited by 5

Principales características fenotípicas crónico degenerativas asociadas al síndrome de Down: Una revisión narrativa

Ocampo, K. E., Fernandez, Y. C., Magaña‐Ordorica, D., Angulo‐Rojo, C., Guadrón‐Llanos, A. M., Castro-Apodaca, F. J., & Magaña‐Gómez, J. A. (2022) · REVMEDUAS · doi:10.28960/revmeduas.2007-8013.v12.se.002 · Cited by 5

ATP5PO levels regulate enteric nervous system development in zebrafish, linking Hirschsprung disease to Down Syndrome

Kuil, L. E., Chauhan, R. K., de Graaf, B. M., Cheng, W. W., Kakiailatu, N. J. M., Lasabuda, R., Verhaeghe, C., Windster, J. D., Schriemer, D., Azmani, Z., et al. (2023) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2023.166991 · Cited by 5

Identification of altered pathways in Down syndrome-associated congenital heart defects using an individualized pathway aberrance score

Chen, Y., Li, T., Guo, W. Y., Su, F. J., & Zhang, Y. X. (2016) · Genetics and Molecular Research · doi:10.4238/gmr.15027601 · Cited by 5

Can Green Tea Polyphenols Improve Phenotypes Associated With Down Syndrome?

Roper, R. J., & Goodlett, C. R. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-813008-7.00035-7 · Cited by 5

Possible roles for the hominoid-specific DSCR4 gene in human cells

Saber, M. M., Karimiavargani, M., Uzawa, T., Hettiarachchi, N., Hamada, M., Ito, Y., & Saitou, N. (2021) · Genes & Genetic Systems · doi:10.1266/ggs.20-00012 · Cited by 5

Nonlinear Optics in Doped Silica Glass Integrated Waveguide Structures

Duchesne, D., Ferrera, M., Razzari, L., Morandotti, R., Little, B. E., Sai, T., & David, J. (2010) · InTech eBooks · doi:10.5772/39556 · Cited by 5

Combinatorial Gene Effects on the Neural Progenitor Pool in Down Syndrome

Lu, J., & Shee, V. (2011) · InTech eBooks · doi:10.5772/20888 · Cited by 4

Down Syndrome: A Complex and Interactive Genetic Disorder

Samantha, L., Joshua, D., Jeffrey, P. D., & Randall, J. (2011) · InTech eBooks · doi:10.5772/18436 · Cited by 4

SNaPshot Assay in Quantitative Detection of Allelic Nondisjunction in Down Syndrome

Ghosh, D., Gochhait, S., Banerjee, D., Chatterjee, A., Sinha, S., & Nandagopal, K. (2012) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2012.0083 · Cited by 4

Challenges to congenital genetic disorders with “RNA-targeting” chemical compounds

Ogawa, Y., & Hagiwara, M. (2012) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2012.02.001 · Cited by 4

Understanding the Development of Attention in Persons with Intellectual Disability: Challenging the Myths

Iarocci, G., Porporino, M., Enns, J. T., & Burack, J. A. (2012) · Oxford University Press eBooks · doi:10.1093/oxfordhb/9780195305012.013.0006 · Cited by 4

Cardio-STIC (spatio-temporal image correlation) as genetic ultrasound of fetal Down syndrome

Tongsong, T., Tongprasert, F., Srisupundit, K., Luewan, S., & Traisrisilp, K. (2014) · The Journal of Maternal-Fetal & Neonatal Medicine · doi:10.3109/14767058.2014.973395 · Cited by 4

Detection of 21q11.2‐q22.11 deletions in a fetus by NIPT

Zheng, Y., Chen, B., Wan, S., Xu, H., Dang, Y., Song, T., Li, Y., & Zhang, J. (2019) · Journal of Clinical Laboratory Analysis · doi:10.1002/jcla.22711 · Cited by 4

Partial trisomy 21: A fifty‐year follow‐up visit

Hamm, J. A., Carroll, A. J., Mikhail, F. M., Korf, B. R., & Finley, W. H. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37031 · Cited by 4

Down syndrome: The crucible for treating genomic imbalance

Korenberg, J. R. (2009) · Genetics in Medicine · doi:10.1097/gim.0b013e3181b765e7 · Cited by 4

Substrate interaction inhibits γ-secretase production of amyloid-β peptides

Zhao, J., Xiao, Y., Liu, X., Kim, S., Wu, X., Barros, M., Zhuang, R., Hou, X., Zhang, Y., Robakis, N. K. R. K., et al. (2020) · Chemical Communications · doi:10.1039/c9cc09170j · Cited by 4

Development of Molecular Neuropathology in Down Syndrome across the Lifespan

Bhattacharyya, A., de la Torre-Ubieta, L., Zhu, Y., Head, E., Swarup, V., & Sousa, A. M. M. (2025) · Journal of Neuroscience · doi:10.1523/jneurosci.1365-25.2025 · Cited by 3

Systematic Tracking of Disrupted Modules Identifies Altered Pathways Associated with Congenital Heart Defects in Down Syndrome

Chen, D., Zhang, Z., & Meng, Y.-X. (2015) · Medical Science Monitor · doi:10.12659/msm.896001 · Cited by 3

Assessing autosomal aneuploidy in ancient genomes

Gresky, J. (2024) · Trends in Genetics · doi:10.1016/j.tig.2024.04.006 · Cited by 3

Genetic interactions and co-operating effects of non-HSA21 genes on the phenotypic variability in Down syndrome

Ganguly, B. B., & Kadam, N. N. (2024) · Gene Reports · doi:10.1016/j.genrep.2024.102106 · Cited by 3

All-Optical Wavelength-Selective Switch by Intensity Control in Cascaded Interferometers

Kishikawa, H., Goto, N., & Kimiy, K. (2010) · InTech eBooks · doi:10.5772/39555 · Cited by 3

[Frequency of imperforate anus and associated risk factors in patients with Down syndrome].

Cammarata‐Scalisi, F., Paoli-Valeri, M., Cammarata-Scalisi, G., Díaz, J. J., Nasre, R., & Cammarata-Scalisi, M. E. (2012) · PubMed · Cited by 3

Genotype-phenotype correlations in down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

Lyle, R., Béna, F., Gagos, S., Gehrig, C., Lopez, G., Schinzel, A., Lespinasse, J., Bottani, A., Dahoun, S., Taine, L., et al. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.214 · Cited by 331

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

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

Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype

Pelleri, M. C., Cicchini, E., Locatelli, C., Vitale, L., Caracausi, M., Piovesan, A., Rocca, A., Poletti, G., Seri, M., Strippoli, P., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw116 · Cited by 83

Highly restricted Down syndrome critical region identified on human chromosome 21.

Pelleri, M. C., LOCATELLI, C., Vitale, L., Caracausi, M., Piovesan, A., ROCCA, A., Poletti, G., Seri, M., Cocchi, G., Strippoli, P., et al. (2016) · Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna)