Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly

A Robust Algorithm for Copy Number Detection Using High-Density Oligonucleotide Single Nucleotide Polymorphism Genotyping Arrays

Nannya, Y., Sanada, M., Nakazaki, K., Hosoya, N., Wang, L., Hangaishi, A., Kurokawa, M., Chiba, S., Bailey, D. K., Kennedy, G. C., et al. (2005) · Cancer Research · doi:10.1158/0008-5472.can-05-0465 · Cited by 639 · see citing works

minibrain: A new protein kinase family involved in postembryonic neurogenesis in Drosophila

Tejedor, F. J., Zhu, X., Kaltenbach, E., Ackermann, A., Baumann, A., Canal, I., Heisenberg, M., Fischbach, K. F., & Pongs, O. (1995) · Neuron · doi:10.1016/0896-6273(95)90286-4 · Cited by 379 · see citing works

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 · see citing works

Dyrk1A Haploinsufficiency Affects Viability and Causes Developmental Delay and Abnormal Brain Morphology in Mice

Fotaki, V., Dierssen, M., Alcántara, S., Martı́nez, S., Martı́, E., Casas, C., Visa, J., Soriano, E., Estivill, X., & Arbonés, M. L. (2002) · Molecular and Cellular Biology · doi:10.1128/mcb.22.18.6636-6647.2002 · Cited by 330 · see citing works

HumanMinibrainHomologue (MNBH/DYRK1): Characterization, Alternative Splicing, Differential Tissue Expression, and Overexpression in Down Syndrome

Guimera, J., Casas, C., Estivill, X., & Pritchard, M. (1999) · Genomics · doi:10.1006/geno.1999.5775 · Cited by 186 · see citing works

Isolation of Human and Murine Homologues of theDrosophilaMinibrain Gene: Human Homologue Maps to 21q22.2 in the Down Syndrome “Critical Region”

Song, W., Sternberg, L. R., Kasten-Sportès, C., Keuren, M. L. V., Chung, S.-H., Slack, A. C., Miller, D. E., Glover, T. W., Chiang, P.-W., Lou, L., et al. (1996) · Genomics · doi:10.1006/geno.1996.0636 · Cited by 177 · see citing works

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly

Møller, R. S., Kübart, S., Hoeltzenbein, M., Heye, B., Vogel, I., Hansen, C. P., Menzel, C., Ullmann, R., Tommerup, N., Ropers, H.-H., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.03.001 · Cited by 163 · see citing works

The protein kinase DYRK1A regulates caspase-9-mediated apoptosis during retina development.

Laguna, A., Aranda, S., Barallobre, M., Barhoum, R., Fernández, E., Fotaki, V., Delabar, J., de la Luna, S., de la Villa, P., & Arbonés, M. (2008) · Developmental Cell · doi:10.1016/j.devcel.2008.10.014 · Cited by 131 · see citing works

Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region

Ronan, A., Fagan, K., Christie, L., Conroy, J. M., Nowak, N. J., & TURNER, G. M. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2006.047373 · Cited by 121 · see citing works

DYRK1A (Dual-Specificity Tyrosine-Phosphorylated and -Regulated Kinase 1A): A Gene with Dosage Effect During Development and Neurogenesis

Dierssen, M., & de Lagrán, M. M. (2006) · The Scientific World JOURNAL · doi:10.1100/tsw.2006.319 · Cited by 97 · see citing works

Impaired Spatial Learning Strategies and Novel Object Recognition in Mice Haploinsufficient for the Dual Specificity Tyrosine-Regulated Kinase-1A (Dyrk1A)

Arqué, G., Fotaki, V., Fernández, D., de Lagrán, M. M., Arbonés, M. L., & Dierssen, M. (2008) · PLoS ONE · doi:10.1371/journal.pone.0002575 · Cited by 97 · see citing works

Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region.

Chettouh, Z., CROQUETTE, M. F., Delobel, B., Gilgenkrants, S., Leonard, C. A., Maunoury, C., Prieur, M., Rethoré, M. O., Sinet, P., & Chery, M. (1995) · Europe PMC (PubMed Central) · Cited by 73 · see citing works

Haploinsufficiency of Dyrk1A in Mice Leads to Specific Alterations in the Development and Regulation of Motor Activity.

Fotaki, V., de Lagrán, M. M., Estivill, X., Arbonés, M. L., & Dierssen, M. (2004) · Behavioral Neuroscience · doi:10.1037/0735-7044.118.4.815 · Cited by 68 · see citing works

Possible narrowed assignment of the loci of monosomy 21-associated microcephaly and intrauterine growth retardation to a 1.2-Mb segment at 21q22.2.

Matsumoto, N., Ohashi, H., Tsukahara, M., Kim, K. C., Soeda, E., & Niikawa, N. (1997) · Europe PMC (PubMed Central) · Cited by 42 · see citing works

Microdeletion of the Down syndrome critical region at 21q22

Fujita, H., Torii, C., Kosaki, R., Yamaguchi, S., Kudoh, J., Hayashi, K., Takahashi, T., & Kosaki, K. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33228 · Cited by 33 · see citing works

De Novo Gene Disruptions in Children on the Autistic Spectrum

Iossifov, I., Ronemus, M., Levy, D., Wang, Z., Hakker, I., Rosenbaum, J., Yamrom, B., Lee, Y.-H., Narzisi, G., Leotta, A., et al. (2012) · Neuron · doi:10.1016/j.neuron.2012.04.009 · Cited by 1,446 · see citing works

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

O’Roak, B. J., Vives, L., Fu, W., Egertson, J. D., Stanaway, I. B., Phelps, I. G., Carvill, G., Kumar, A., Lee, C., Ankenman, K., et al. (2012) · Science · doi:10.1126/science.1227764 · Cited by 1,240 · see citing works

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Coe, B. P., Witherspoon, K., Rosenfeld, J. A., van Bon, B. W. M., Vulto-van Silfhout, A. T., Bosco, P., Friend, K. L., Baker, C., Buono, S., Vissers, L. E. L. M., et al. (2014) · Nature Genetics · doi:10.1038/ng.3092 · Cited by 720 · see citing works

A de novo convergence of autism genetics and molecular neuroscience

Krumm, N., O’Roak, B. J., Shendure, J., & Eichler, E. E. (2014) · Trends in Neurosciences · doi:10.1016/j.tins.2013.11.005 · Cited by 423 · see citing works

Genetic and Epigenetic Networks in Intellectual Disabilities

van Bokhoven, H. (2011) · Annual Review of Genetics · doi:10.1146/annurev-genet-110410-132512 · Cited by 382 · see citing works

The impact of nonsense-mediated mRNA decay on genetic disease, gene editing and cancer immunotherapy

Lindeboom, R. G. H., Vermeulen, M., Lehner, B., & Supek, F. (2019) · Nature Genetics · doi:10.1038/s41588-019-0517-5 · Cited by 327 · see citing works

Down syndrome and the complexity of genome dosage imbalance

Antonarakis, S. (2016) · Nature reviews genetics · doi:10.1038/nrg.2016.154 · Cited by 264 · see citing works

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Redin, C. E., Gérard, B., Lauer, J., Herenger, Y., Muller, J., Quartier, A., Masurel, A., Willems, M., Lesca, G., Chehadeh, S. E., et al. (2014) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2014-102554 · Cited by 262 · see citing works

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

van Bon, B. W. M., Coe, B. P., Bernier, R., Green, C., Gerdts, J., Witherspoon, K., Kleefstra, T., Willemsen, M. H., Kumar, R., Bosco, P., et al. (2016) · Molecular Psychiatry · doi:10.1038/mp.2015.5 · Cited by 204 · see citing works

DYRK1A, a dosage-sensitive gene involved in neurodevelopmental disorders, is a target for drug development in down syndrome

Duchon, A., & Herault, Y. (2016) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2016.00104 · Cited by 181 · see citing works

DYRK1A and cognition: A lifelong relationship

Arbonés, M. L., Thomazeau, A., Nakano-Kobayashi, A., Hagiwara, M., & Delabar, J. M. (2018) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2018.09.010 · Cited by 165 · see citing works

DYRK1A: A master regulatory protein controlling brain growth

Guedj, F., Pereira, P. L., Najas, S., Barallobre, M. J., Chabert, C., Souchet, B., Sebrié, C., Verney, C., Hérault, Y., Arbonés, M. L., et al. (2012) · Neurobiology of Disease · doi:10.1016/j.nbd.2012.01.007 · Cited by 155 · see citing works

Prioritization of neurodevelopmental disease genes by discovery of new mutations

Hoischen, A., Krumm, N., & Eichler, E. E. (2014) · Nature Neuroscience · doi:10.1038/nn.3703 · Cited by 149 · see citing works

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Ji, J., Lee, H., Argiropoulos, B., Dorrani, N., Mann, J., Martinez-Agosto, J. A., Gomez-Ospina, N., Gallant, N., Bernstein, J. A., Hudgins, L., et al. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.71 · Cited by 145 · see citing works

Zebrafish Models of Neurodevelopmental Disorders: Limitations and Benefits of Current Tools and Techniques

Vaz, R., Hofmeister, W., & Lindstrand, A. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20061296 · Cited by 143 · see citing works

Chromatin-wide Profiling of DYRK1A Reveals a Role as a Gene-Specific RNA Polymerase II CTD Kinase

Vona, C. D., Bezdan, D., Islam, A. B. M. M. K., Salichs, E., López-Bigas, N., Ossowski, S., & de la Luna, S. (2015) · Molecular Cell · doi:10.1016/j.molcel.2014.12.026 · Cited by 129 · see citing works

The <i>DYRK1A</i> gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

Courcet, J.-B., Faivre, L., Malzac, P., Masurel-Paulet, A., Lopez, E., Callier, P., Lambert, L., Lemesle, M., Thevenon, J., Gigot, N., et al. (2012) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-101251 · Cited by 121 · see citing works

Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism

Kim, O.-H., Cho, H.-J., Han, E., Hong, T. I., Ariyasiri, K., Choi, J. H., Hwang, K.-S., Jeong, Y.-M., Yang, S.-Y., Yu, K., et al. (2017) · Molecular Autism · doi:10.1186/s13229-017-0168-2 · Cited by 123 · see citing works

Minibrain/Dyrk1a Regulates Food Intake through the Sir2-FOXO-sNPF/NPY Pathway in Drosophila and Mammals

Hong, S.-H., Lee, K., Kwak, S., Kim, A., Bai, H., Jung, M., Kwon, O., Song, W., Tatar, M., & Yu, K. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002857 · Cited by 123 · see citing works

Excitation/inhibition balance and learning are modified by Dyrk1a gene dosage

Souchet, B., Guedj, F., Sahún, I., Duchon, A., Daubigney, F., Badel, A., Yanagawa, Y., Barallobre, M. J., Dierssen, M., Yu, E. Y., et al. (2014) · Neurobiology of Disease · doi:10.1016/j.nbd.2014.04.016 · Cited by 112 · see citing works

Dysfunction of the corticostriatal pathway in autism spectrum disorders

Li, W., & Pozzo‐Miller, L. D. (2019) · Journal of Neuroscience Research · doi:10.1002/jnr.24560 · Cited by 106 · see citing works

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

Bronicki, L. M., Redin, C., Drunat, S., Piton, A., Lyons, M., Passemard, S., Baumann, C., Faivre, L., Thevenon, J., Rivière, J.-B., et al. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.29 · Cited by 105 · see citing works

The Parkinson's Disease <scp>Genome‐Wide</scp> Association Study Locus Browser

Grenn, F. P., Kim, J. J., Makarious, M. B., Iwaki, H., Illarionova, A., Brolin, K., Kluss, J. H., Schumacher‐Schuh, A. F., Leonard, H., Faghri, F., et al. (2020) · Movement Disorders · doi:10.1002/mds.28197 · Cited by 103 · see citing works

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

Rump, P., Jazayeri, O., van Dijk-Bos, K. K., Johansson, L. F., van Essen, A. J., Verheij, J. B. G. M., Veenstra‐Knol, H. E., Redeker, E. J. W., Mannens, M. M. A. M., Swertz, M. A., et al. (2015) · BMC Medical Genomics · doi:10.1186/s12920-016-0167-8 · Cited by 92 · see citing works

Dyrk1a from gene function in development and physiology to dosage correction across life span in down syndrome

Atas-Ozcan, H., Brault, V., Duchon, A., & Herault, Y. (2021) · Genes · doi:10.3390/genes12111833 · Cited by 78 · see citing works

Gene dosage imbalances: action, reaction, and models

Veitia, R. A., & Potier, M. (2015) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2015.03.011 · Cited by 75 · see citing works

Pharmacological correction of excitation/inhibition imbalance in Down syndrome mouse models

Souchet, B., Guedj, F., Penke-Verdier, Z., Daubigney, F., Duchon, A., Hérault, Y., Bizot, J., Janel, N., Créau, N., Delatour, B., et al. (2015) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2015.00267 · Cited by 74 · see citing works

Riquiqui and Minibrain are regulators of the Hippo pathway downstream of Dachsous

Degoutin, J. L., Milton, C. C., Yu, E., Tipping, M., Bosveld, F., Yang, L., Bellaı̈che, Y., Veraksa, A. N., & Harvey, K. F. (2013) · Nature Cell Biology · doi:10.1038/ncb2829 · Cited by 73 · see citing works

Clinical phenotype of ASD-associated DYRK1A haploinsufficiency

Earl, R. K., Turner, T. N., Mefford, H. C., Hudac, C. M., Gerdts, J. A., Eichler, E. E., & Bernier, R. (2017) · Molecular Autism · doi:10.1186/s13229-017-0173-5 · Cited by 72 · see citing works

What we can learn from a genetic rodent model about autism

Möhrle, D., Fernández, M. C., Peñagarikano, O., Frick, A., Allman, B. L., & Schmid, S. (2019) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2019.12.015 · Cited by 59 · see citing works

Overexpression ofDyrk1A, a Down Syndrome Candidate, Decreases Excitability and Impairs Gamma Oscillations in the Prefrontal Cortex

Ruiz-Mejías, M., de Lagrán, M. M., Mattia, M., Castano-Prat, P., Perez-Mendez, L., Ciria‐Suarez, L., Gener, T., Sancristóbal, B., García‐Ojalvo, J., Gruart, A., et al. (2016) · Journal of Neuroscience · doi:10.1523/jneurosci.2517-15.2016 · Cited by 60 · see citing works

DYRK1A-haploinsufficiency in mice causes autistic-like features and febrile seizures

Raveau, M., Shimohata, A., Amano, K., Miyamoto, H., & Yamakawa, K. (2017) · Neurobiology of Disease · doi:10.1016/j.nbd.2017.12.003 · Cited by 49 · see citing works

Possible functional links among brain- and skull-related genes selected in modern humans

Benítez‐Burraco, A., & Boeckx, C. A. (2015) · Frontiers in Psychology · doi:10.3389/fpsyg.2015.00794 · Cited by 54 · see citing works

Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome

Laguna, A., Barallobre, M. J., Marchena, M., Mateus, C., Ramírez, E., Martínez‐Cué, C., Delabar, J. M., Castelo-Branco, M. S., de la Villa, P., & Arbonés, M. L. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt125 · Cited by 54 · see citing works

Intellectual disability and autism spectrum disorders ‘on the fly’: insights from Drosophila

Coll-Tané, M., Krebbers, A., Castells‐Nobau, A., Zweier, C., & Schenck, A. (2019) · Disease Models & Mechanisms · doi:10.1242/dmm.039180 · Cited by 55 · see citing works

Syndromic Autism Revisited: Review of the Literature and Lessons Learned

Ziats, C. A., Patterson, W. G., & Friez, M. J. (2020) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2020.06.011 · Cited by 55 · see citing works

A Requirement for Mena, an Actin Regulator, in Local mRNA Translation in Developing Neurons

Vidaki, M., Drees, F., Saxena, T., Lanslots, E., Taliaferro, J. M., Tatarakis, A., Burge, C. B., Wang, E. T., & Gertler, F. B. (2017) · Neuron · doi:10.1016/j.neuron.2017.06.048 · Cited by 54 · see citing works

Bridging the Gap between Genes and Language Deficits in Schizophrenia: An Oscillopathic Approach

Murphy, E., & Benítez‐Burraco, A. (2016) · Frontiers in Human Neuroscience · doi:10.3389/fnhum.2016.00422 · Cited by 52 · see citing works

DYRK1A promotes dopaminergic neuron survival in the developing brain and in a mouse model of Parkinson’s disease

Barallobre, M. J., Perier, C., Bové, J., Laguna, A., Delabar, J. M., Vila, M., & Arbonés, M. L. (2014) · Cell Death and Disease · doi:10.1038/cddis.2014.253 · Cited by 50 · see citing works

Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature

Luco, S. M., Pohl, D., Sell, E., Wagner, J. D., Dyment, D. A., & Daoud, H. (2016) · BMC Medical Genetics · doi:10.1186/s12881-016-0276-4 · Cited by 49 · see citing works

The Social Brain Network and Autism

Misra, V. (2014) · Annals of Neurosciences · doi:10.5214/ans.0972.7531.210208 · Cited by 47 · see citing works

Dyrk1a gene dosage in glutamatergic neurons has key effects in cognitive deficits observed in mouse models of MRD7 and Down syndrome

Brault, V., Nguyen, T. L., Gutiérrez, J. F., Iacono, G. L., Birling, M., Lalanne, V., Méziane, H., Manousopoulou, A., Pavlovic, G., Lindner, L., et al. (2021) · PLoS Genetics · doi:10.1371/journal.pgen.1009777 · Cited by 41 · see citing works

Impaired development of neocortical circuits contributes to the neurological alterations in DYRK1A haploinsufficiency syndrome

Arranz, J., Balducci, E., Arató, K., Sánchez‐Elexpuru, G., Najas, S., Parras, A., Rebollo, E., Pijuan, I., Erb, I., Verde, G., et al. (2019) · Neurobiology of Disease · doi:10.1016/j.nbd.2019.02.022 · Cited by 40 · see citing works

Dyrk1a mutations cause undergrowth of cortical pyramidal neurons via dysregulated growth factor signaling

Levy, J., LaFlamme, C. W., Tsaprailis, G., Crynen, G., & Page, D. T. (2021) · Biological Psychiatry · doi:10.1016/j.biopsych.2021.01.012 · Cited by 33 · see citing works

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

Courraud, J., Chater‐Diehl, E., Durand, B., Vincent, M., Moreno, M. D. M. M., Boujelbene, I., Drouot, N., Genschik, L., Schaefer, É., Nizon, M., et al. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01263-1 · Cited by 37 · see citing works

Effect of DYRK1A activity inhibition on development of neuronal progenitors isolated from Ts65Dn mice

Mazur‐Kolecka, B., Golabek, A. A., Kida, E., Rabe, A., Hwang, Y., Adayev, T., Węgiel, J., Flory, M. J., Kaczmarski, W., Marchi, E. J., et al. (2012) · Journal of Neuroscience Research · doi:10.1002/jnr.23007 · Cited by 38 · see citing works

Emerging Roles of DYRK Kinases in Embryogenesis and Hedgehog Pathway Control

Singh, R. K., & Lauth, M. (2017) · Journal of Developmental Biology · doi:10.3390/jdb5040013 · Cited by 37 · see citing works

Global kinome profiling reveals DYRK1A as critical activator of the human mitochondrial import machinery

Walter, C., Marada, A., Suhm, T., Ernsberger, R., Muders, V., Küçükköse, C., Sánchez‐Martín, P., Hu, Z., Aich, A., Loroch, S., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-24426-9 · Cited by 36 · see citing works

DYRK1A mutations in two unrelated patients

Ruaud, L., Mignot, C., Guët, A., Ohl, C., Nava, C., Héron, D., Keren, B., Depienne, C., Benoît, V., Maystadt, I., et al. (2015) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2014.12.014 · Cited by 33 · see citing works

New Perspectives for the Rescue of Cognitive Disability in Down Syndrome

Bartesaghi, R., Haydar, T. F., Delabar, J. M., Dierssen, M., Martínez‐Cué, C., & Bianchi, D. W. (2015) · Journal of Neuroscience · doi:10.1523/jneurosci.2775-15.2015 · Cited by 32 · see citing works

Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism

Widowati, E. W., Ernst, S., Hausmann, R., Müller‐Newen, G., & Becker, W. B. (2018) · Biology Open · doi:10.1242/bio.032862 · Cited by 30 · see citing works

Structural analysis of pathogenic mutations in theDYRK1Agene in patients with developmental disorders

Evers, J. M. G., Laskowski, R. A., Bértoli, M., Clayton‐Smith, J., Deshpande, C., Eason, J., Elmslie, F., Flinter, F. A., Gardiner, C. A., Hurst, J. A., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw409 · Cited by 33 · see citing works

Whole genome sequencing of 45 Japanese patients with intellectual disability

Abe‐Hatano, C., Iida, A., Kosugi, S., Momozawa, Y., Terao, C., Ishikawa, K., Okubo, M., Hachiya, Y., Nishida, H., Nakamura, K., et al. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62138 · Cited by 29 · see citing works

Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism

Hudac, C. M., Stessman, H. A. F., DesChamps, T. D., Kresse, A., Faja, S., Neuhaus, E., Webb, S. J., Eichler, E. E., & Bernier, R. (2017) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-017-9199-4 · Cited by 23 · see citing works

Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders

Mozzi, A., Forni, D., Cagliani, R., Pozzoli, U., Clerici, M., & Sironi, M. (2017) · Scientific Reports · doi:10.1038/s41598-017-06440-4 · Cited by 19 · see citing works

Gene Dosage-Dependent Association of DYRK1A With the Cytoskeleton in the Brain and Lymphocytes of Down Syndrome Patients

Dowjat, K., Adayev, T., Kaczmarski, W., Węgiel, J., & Hwang, Y. (2012) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e31827733c8 · Cited by 21 · see citing works

Minibrain drives the Dacapo dependent cell cycle exit of neurons in the Drosophila brain by promoting asense and prospero expression

Nurunnabi, S. M., Gutiérrez-Aviñó, F. J., Colonques, J., Cerón, J., Hämmerle, B., & Tejedor, F. J. (2016) · Development · doi:10.1242/dev.134338 · Cited by 20 · see citing works

Cerebellar alterations in a model of Down syndrome: The role of the Dyrk1A gene

García-Cerro, S., Vidal, V., Lantigua, S., Berciano, M. T., Lafarga, M., Ramos‐Cabrer, P., Padró, D., Rueda, N., & Martínez‐Cué, C. (2017) · Neurobiology of Disease · doi:10.1016/j.nbd.2017.12.002 · Cited by 20 · see citing works

DYRK1A signalling synchronizes the mitochondrial import pathways for metabolic rewiring

Marada, A., Walter, C., Suhm, T., Shankar, S., Nandy, A., Brummer, T., Dhaouadi, I., Vögtle, F. ‐., & Meisinger, C. (2024) · Nature Communications · doi:10.1038/s41467-024-49611-4 · Cited by 19 · see citing works

Ocular Phenotype Associated with DYRK1A Variants

Méjécase, C., Way, C., Owen, N., & Moosajee, M. (2021) · Genes · doi:10.3390/genes12020234 · Cited by 19 · see citing works

Bone Tissue and the Nervous System: What Do They Have in Common?

Minoia, A., Carbonare, L. D., Schwamborn, J. C., Bolognin, S., & Valenti, M. T. (2022) · Cells · doi:10.3390/cells12010051 · Cited by 19 · see citing works

DCAF7/WDR68 is required for normal levels of DYRK1A and DYRK1B

Yousefelahiyeh, M., Xu, J., Alvarado, E., Yang, Y., Salven, D. S., & Nissen, R. M. (2018) · PLoS ONE · doi:10.1371/journal.pone.0207779 · Cited by 19 · see citing works

Osteogenesis and neurogenesis: a robust link also for language evolution

Boeckx, C. A., & Benítez‐Burraco, A. (2015) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2015.00291 · Cited by 18 · see citing works

Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann–Steiner syndromes

Durand, B., Schaefer, É., Burger, P., Baer, S., Schroder, C. M., Mandel, J., Piton, A., & Coutelle, R. (2022) · Clinical Genetics · doi:10.1111/cge.14190 · Cited by 16 · see citing works

The molecular genetics of PI3K/PTEN/AKT/mTOR pathway in the malformations of cortical development

Ma, Q., Chen, G., Li, Y., Guo, Z., & Zhang, X. (2023) · Genes & Diseases · doi:10.1016/j.gendis.2023.04.041 · Cited by 17 · see citing works

A novel binding protein of single-minded 2: the mitotic arrest-deficient protein MAD2B

Meng, X., Tian, X., Wang, X., Gao, P., & Zhang, C. (2012) · Neurogenetics · doi:10.1007/s10048-012-0333-x · Cited by 15 · see citing works

Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability

Hudac, C. M., Friedman, N. R., Ward, V. R., Estreicher, R. E., Dorsey, G. C., Bernier, R., Kurtz‐Nelson, E. C., Earl, R. K., Eichler, E. E., & Neuhaus, E. (2023) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-023-05897-9 · Cited by 16 · see citing works

Drosophila Dyrk2 Plays a Role in the Development of the Visual System

Luebbering, N., Charlton-Perkins, M. A., Kumar, J. P., Rollmann, S. M., Cook, T. A., & Cleghon, V. (2013) · PLoS ONE · doi:10.1371/journal.pone.0076775 · Cited by 15 · see citing works

Correction: Minibrain/Dyrk1a Regulates Food Intake through the Sir2-FOXO-sNPF/NPY Pathway in Drosophila and Mammals

Hong, S.-H., Lee, K., Kwak, S., Kim, A., Bai, H., Jung, M.-S., Kwon, O., Song, W., Tatar, M., & Yu, K. (2012) · PLoS Genetics · doi:10.1371/annotation/8c2c8644-1beb-4410-8bef-c388b7256738 · Cited by 14 · see citing works

Characterizing the autism spectrum phenotype in DYRK1A ‐related syndrome

Kurtz‐Nelson, E. C., Rea, H. M., Petriceks, A. C., Hudac, C. M., Wang, T., Earl, R. K., Bernier, R., Eichler, E. E., & Neuhaus, E. (2023) · Autism Research · doi:10.1002/aur.2995 · Cited by 12 · see citing works

Precision Revisited: Targeting Microcephaly Kinases in Brain Tumors

Pallavicini, G., Berto, G. E., & Cunto, F. D. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20092098 · Cited by 12 · see citing works

Impaired macroglial development and axonal conductivity contributes to the neuropathology of DYRK1A-related intellectual disability syndrome

Pijuan, I., Balducci, E., Soto‐Sánchez, C., Fernández, E., Barallobre, M. J., & Arbonés, M. L. (2022) · Scientific Reports · doi:10.1038/s41598-022-24284-5 · Cited by 11 · see citing works

Autism Spectrum Disorders

Anderson, M. P. (2018) · Wiley eBooks · doi:10.1002/9781119013112.ch40 · Cited by 11 · see citing works

DYRK1A Is a Regulator of S-Phase Entry in Hepatic Progenitor Cells

Kruitwagen, H. S., Westendorp, B., Viebahn, C. S., Post, K., van Wolferen, M. E., Oosterhoff, L. A., Egan, D. A., Delabar, J. M., Toussaint, M. J. M., Schotanus, B. A., et al. (2017) · Stem Cells and Development · doi:10.1089/scd.2017.0139 · Cited by 10 · see citing works

Abnormalities of DYRK1A-Cytoskeleton Complexes in the Blood Cells as Potential Biomarkers of Alzheimer’s Disease

Dowjat, K., Adayev, T., Wojda, U., Brzozowska, K., Barczak, A. K., Gabryelewicz, T., & Hwang, Y. (2019) · Journal of Alzheimer s Disease · doi:10.3233/jad-190475 · Cited by 10 · see citing works

Disease Modeling of Rare Neurological Disorders in Zebrafish

Son, M., Kim, D. Y., & Kim, C. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23073946 · Cited by 11 · see citing works

Risk of Alzheimer's disease in Down syndrome: Insights gained by multi‐omics

Qu, H., Liu, Y., Connolly, J. J., Mentch, F. D., Kao, C., & Hakonarson, H. H. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.14604 · Cited by 9 · see citing works

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 · see citing works

One-carbon cycle alterations induced by Dyrk1a dosage

Delabar, J. M., Latour, A., Noll, C., Renon, M., Salameh, S., Paul, J., Arbonés, M. L., Movassat, J., & Janel, N. (2014) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2014.11.004 · Cited by 8 · see citing works

Association of genetic variants with autism spectrum disorder in Japanese children revealed by targeted sequencing

Shiota, Y., Nishiyama, T., Yokoyama, S., Yoshimura, Y., Hasegawa, C., Tanaka, S., Iwasaki, S., & Kikuchi, M. (2024) · Frontiers in Genetics · doi:10.3389/fgene.2024.1352480 · Cited by 7 · see citing works

DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition

Orenstein, N., Gofin, Y., Shomron, N., Ruhrman‐Shahar, N., Magal, N., Hagari, O., Azulay, N., Bazak, L., Goldberg, Y., & Basel‐Vanagaite, L. (2021) · Clinical Genetics · doi:10.1111/cge.14084 · Cited by 6 · see citing works

The Genetics of Brain Malformations

Manzini, M. C., & Walsh, C. A. (2015) · Wiley eBooks · doi:10.1002/9781118524947.ch7 · Cited by 6 · see citing works

Cerebral organoid proteomics reveals signatures of dysregulated cortical development associated with human trisomy 21Preprint

McClure‐Begley, T. D., Ebmeier, C. C., Ball, K. A., Jacobsen, J. R., Kogut, I., Bilousova, G., Klymkowsky, M. W., & Old, W. M. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/315317 · Cited by 6 · see citing works

PhenoScore: AI-based phenomics to quantify rare disease and genetic variationPreprint

Dingemans, A. J. M., Hinne, M., Truijen, K. M. G., Goltstein, L. C. M. J., van Reeuwijk, J., de Leeuw, N., Schuurs-Hoeijmakers, J. H. M., Pfundt, R., Diets, I. J., den Hoed, J., et al. (2022) · medRxiv · doi:10.1101/2022.10.24.22281480 · Cited by 6 · see citing works

Identification of two novel and one rare mutation in DYRK1A and prenatal diagnoses in three Chinese families with intellectual Disability-7

Huang, C., Luo, H., Zeng, B., Feng, C., Chen, J., Yuan, H., Huang, S., Yang, B., Zou, Y., & Liu, Y. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1290949 · Cited by 5 · see citing works

Association of the Single Nucleotide Polymorphisms in RUNX1, DYRK1A, and KCNJ15 with Blood Related Traits in Pigs

Lee, J.-B., Yoo, C.-K., Park, H.-B., Cho, I., & Lim, H. (2016) · Asian-Australasian Journal of Animal Sciences · doi:10.5713/ajas.16.0348 · Cited by 5 · see citing works

Language Impairment with a Partial Duplication of DOCK8

Benítez‐Burraco, A., Fernández-Urquiza, M., & Jiménez-Romero, M. S. (2020) · Molecular Syndromology · doi:10.1159/000511972 · Cited by 5 · see citing works

Case report: A novel de novo deletion mutation of DYRK1A is associated with intellectual developmental disorder, autosomal dominant 7

Zhou, C., Zhu, H., Xiang, Q., Mai, J., Wang, X., Wang, J., & Liu, S. (2023) · Frontiers in Neuroscience · doi:10.3389/fnins.2023.1174925 · Cited by 4 · see citing works

Mnb/Dyrk1Aorchestrates a transcriptional network at the transition from self-renewing neurogenic progenitors to postmitotic neuronal precursors

Nurunnabi, S. M., & Tejedor, F. J. (2018) · Journal of Neurogenetics · doi:10.1080/01677063.2018.1438427 · Cited by 4 · see citing works

Delving into the Genetic Causes of Language Impairment in a Case of Partial Deletion of NRXN1

Benítez‐Burraco, A., Jiménez-Romero, M. S., & Fernández-Urquiza, M. (2022) · Molecular Syndromology · doi:10.1159/000524710 · Cited by 3 · see citing works

A Munc18-1 mutant mimicking phosphorylation by Down Syndrome-related kinase Dyrk1a supports normal synaptic transmission and promotes recovery after intense activity

Classen, J., Saarloos, I., Meijer, M., Sullivan, P. F., & Verhage, M. (2020) · Scientific Reports · doi:10.1038/s41598-020-59757-y · Cited by 3 · see citing works

Interneuron migration defects during corticogenesis contribute to Dyrk1a haploinsufficiency syndrome pathogenesis

Hinckelmann, M.-V., Dubos, A., Artot, V., Rudolf, G., Nguyen, T. L., Tilly, P., Nalesso, V., Moreno, M. D. M. M., Birling, M., Godin, J. D., et al. (2025) · Molecular Psychiatry · doi:10.1038/s41380-025-03109-7 · Cited by 4 · see citing works

Partial monosomy of chromosome 21 and congenital malformations monosomy of chromosome 21 and malformations

Osiak, L. B., Saraiva, J. G., Mestre, V. D. F., Ferrari, L. S. L., Paiva, W. J. M., de Lima, R. L. L. F., & Salles, M. J. S. (2020) · Clinical Dysmorphology · doi:10.1097/mcd.0000000000000310 · Cited by 2 · see citing works

Interneuron migration defects during corticogenesis contribute to Dyrk1a haploinsufficiency syndrome pathogenesis via actomyosin dynamics deregulationsPreprint

Hinckelmann, M.-V., Dubos, A., Artot, V., Rudolf, G., Nguyen, T. L., Tilly, P., Nalesso, V., Moreno, M. D. M. M., Birling, M., Godin, J. D., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.11.09.566424 · Cited by 2 · see citing works

Engine breakdown of lysosomes and related organelles and the resulting physiology

Bakker, N., Jongsma, M. L. M., & Neefjes, J. (2025) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2025.1575571 · Cited by 1 · see citing works

Transcriptional Biomarkers in the Diagnosis of Genetic Disorders: Opportunities, Challenges, and Prospects for Application

Нефедова, Л. Н., & Krasnova, T. N. (2025) · Biochemistry (Moscow) · doi:10.1134/s0006297925600383 · Cited by 1 · see citing works

Growth charts in DYRK1A syndrome

Lanvin, P., Goronflot, T., Isidor, B., Nizon, M., Durand, B., Chehadeh, S. E., Geneviève, D., Ruault, V., Fradin, M., Pasquier, L., et al. (2023) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63412 · Cited by 1 · see citing works

Regulation of Drosophila brain development and organ growth by the Minibrain/Rala signaling network

Brown, M., Sciascia, E., Ning, K., Adam, W., & Veraksa, A. N. (2024) · G3 Genes Genomes Genetics · doi:10.1093/g3journal/jkae219 · Cited by 1 · see citing works

Dyrk1a inhibition with the Novel Compound DYR533: A Cross-Disease Therapeutic Strategy Targeting Amyloidosis, Tau Pathogenesis, and NeuroinflammationPreprint

Bartholomew, S. K., Turk, J., Winslow, W., Foley, C., Shaw, A. Y., Rokey, S., Tallino, S., Judd, J. M., Beach, T. G., Serrano, G. E., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.01.20.700091 · Cited by 1 · see citing works

Casein kinase 2 controls synapse organization and stability

Bulat, V. (2013) · edoc (University of Basel) · doi:10.5451/unibas-006136875

The <i>DYRK1A</i> gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

Courcet, J.-B., Faivre, L., Malzac, P., Masurel-Paulet, A., Lopez, E., Callier, P., Lambert, L., Lemesle, M., Thevenon, J., Gigot, N., et al. (2012) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-101251 · Cited by 121 · see citing works

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

Bronicki, L. M., Redin, C., Drunat, S., Piton, A., Lyons, M., Passemard, S., Baumann, C., Faivre, L., Thevenon, J., Rivière, J.-B., et al. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.29 · Cited by 105 · see citing works

MG-112 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

Bronicki, L., Redin, C. E., Drunat, S., Piton, A., Lyons, M. J., Passemard, S., Baumann, C., Faivre, L. O., Thévenon, J., Rivière, J., et al. (2015) · doi:10.1136/jmedgenet-2015-103577.6 · Cited by 1 · see citing works

Am J Hum Genet

Møller, R. S., Kübart, S., Hoeltzenbein, M., Heye, B., Vogel, I., Hansen, C., Menzel, C., Ullmann, R., Tommerup, N., Ropers, H., et al. (2008) · MPG.PuRe (Max Planck Society)

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Ji, J., Lee, H., Argiropoulos, B., Dorrani, N., Mann, J., Martinez-Agosto, J. A., Gomez-Ospina, N., Gallant, N., Bernstein, J. A., Hudgins, L., et al. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.71 · Cited by 145 · see citing works