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Reprogramming of the epigenome in neurodevelopmental disorders

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Type XXII Collagen Complements Fibrillar Collagens in the Serological Assessment of Tumor Fibrosis and the Outcome in Pancreatic Cancer

Madsen, E. A., Thorlacius‐Ussing, J., Nissen, N. I., Jensen, C., Chen, I. M., Johansen, J. S., Diab, H. M. H., Jørgensen, L. N., Hansen, C. P., Karsdal, M. A., et al. (2022) · Cells · doi:10.3390/cells11233763 · Cited by 23 · see citing works

CBFA2T2 is required for BMP-2-induced osteogenic differentiation of mesenchymal stem cells

Huang, H., Dou, L., Song, J., & Luo, J. (2018) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2018.01.144 · Cited by 22 · see citing works

NRSF/REST lies at the intersection between epigenetic regulation, miRNA-mediated gene control and neurodevelopmental pathways associated with Intellectual disability (ID) and Schizophrenia

Alsaqati, M., Davis, B. A., Wood, J., Jones, M. M., Jones, L., Westwood, A., Petter, O., Isles, A. R., Linden, D. E. J., van den Bree, M. B. M., et al. (2022) · Translational Psychiatry · doi:10.1038/s41398-022-02199-z · Cited by 19 · see citing works

H3K9MTase G9a is essential for the differentiation and growth of tenocytes in vitro

Wada, S., Ideno, H., Shimada, A., Kamiunten, T., Nakamura, Y., Nakashima, K., Kimurâ, H., Shinkai, Y., Tachibana, M., & Nifuji, A. (2015) · Histochemistry and Cell Biology · doi:10.1007/s00418-015-1318-2 · Cited by 19 · see citing works

Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype

Hadzsiev, K., Komlósi, K., Czakó, M., Duga, B., Szalai, R., Szabó, A., Pöstyéni, E., Szabo, T., Kosztolányi, G., & Melegh, B. (2016) · Molecular Cytogenetics · doi:10.1186/s13039-016-0231-2 · Cited by 19 · see citing works

Epigenetic regulation of craniofacial development and disease

Shull, L. C., & Artinger, K. (2023) · Birth Defects Research · doi:10.1002/bdr2.2271 · Cited by 18 · see citing works

Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion

Campbell, C. L., Collins, R. T., & Zárate, Y. A. (2014) · Birth Defects Research Part A Clinical and Molecular Teratology · doi:10.1002/bdra.23324 · Cited by 17 · see citing works

EHMT1 regulates Parvalbumin-positive interneuron development and GABAergic input in sensory cortical areas

Negwer, M., Piera, K., Hesen, R., Lütje, L., Aarts, L., Schubert, D., & Kasri, N. N. (2020) · Brain Structure and Function · doi:10.1007/s00429-020-02149-9 · Cited by 15 · see citing works

A de novo splice site mutation in EHMT 1 resulting in Kleefstra syndrome with pharmacogenomics screening and behavior therapy for regressive behaviors

Mitra, A., Dodge, J., Ness, J. V., Sokeye, I., & Ness, B. V. (2016) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.265 · Cited by 15 · see citing works

Epigenetic Regulation of Cardiac Neural Crest Cells

Yan, S., Lu, J. Y., & Jiao, K. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.678954 · Cited by 15 · see citing works

G9a/GLP Complex Acts as a Bidirectional Switch to Regulate Metabotropic Glutamate Receptor-Dependent Plasticity in Hippocampal CA1 Pyramidal Neurons

Sharma, M., & Sajikumar, S. (2018) · Cerebral Cortex · doi:10.1093/cercor/bhy161 · Cited by 13 · see citing works

Epigenetic signatures in overgrowth syndromes: Translational opportunities

Cytrynbaum, C. S., Choufani, S., & Weksberg, R. (2019) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31745 · Cited by 12 · see citing works

Epigenetic disorders: Lessons from the animals–animal models in chromatinopathies

Fede, E. D., Grazioli, P., Lettieri, A., Parodi, C., Castiglioni, S., Taci, E., Colombo, E. A., Ancona, S., Priori, A., Gervasini, C., et al. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.979512 · Cited by 11 · see citing works

Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies

Parodi, C., Fede, E. D., Peron, A., Viganò, I., Grazioli, P., Castiglioni, S., Finnell, R. H., Gervasini, C., Vignoli, A., & Massa, V. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.654467 · Cited by 11 · see citing works

Growth, body composition, and endocrine‐metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies

Bouman, A., Geelen, J. M., Kummeling, J., Schenck, A., van der Zwan, Y. G., Klein, W. M., & Kleefstra, T. (2023) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63472 · Cited by 9 · see citing works

The Object Space Task reveals increased expression of cumulative memory in a mouse model of Kleefstra syndrome

Schut, E. H. S., Alonso, A., Smits, S., Khamassi, M., Samanta, A., Negwer, M., Kasri, N. N., Navarro Lobato, I., & Genzel, L. (2020) · Neurobiology of Learning and Memory · doi:10.1016/j.nlm.2020.107265 · Cited by 8 · see citing works

Impairments in sensory-motor gating and information processing in a mouse model of Ehmt1 haploinsufficiency

Davis, B. A., David, F., O’Regan, C., Adam, M. A., Harwood, A. J., Crunelli, V., & Isles, A. R. (2020) · Brain and Neuroscience Advances · doi:10.1177/2398212820928647 · Cited by 7 · see citing works

Otopathology in Kleefstra Syndrome: A Case Report

Okayasu, T., Quesnel, A. M., Reinshagen, K. L., & Nadol, J. B. (2019) · The Laryngoscope · doi:10.1002/lary.28380 · Cited by 8 · see citing works

Inhibitory Metaplasticity in Juvenile Stressed Rats Restores Associative Memory in Adulthood by Regulating Epigenetic Complex G9a/GLP

Raghuraman, R., Manakkadan, A., Richter‐Levin, G., & Sajikumar, S. (2022) · The International Journal of Neuropsychopharmacology · doi:10.1093/ijnp/pyac008 · Cited by 7 · see citing works

Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome

Vargìami, E., Ververi, A., Al-Mutawa, H., Gioula, G., Gerou, S., Rouvalis, F., Kambouris, M., & Zafeiriou, D. (2016) · Case Reports in Genetics · doi:10.1155/2016/3056053 · Cited by 7 · see citing works

G9a and G9a-Like Histone Methyltransferases and Their Effect on Cell Phenotype, Embryonic Development, and Human Disease

Eisenberg, C. A., & Eisenberg, L. M. (2019) · RNA technologies · doi:10.1007/978-3-030-14792-1_16 · Cited by 7 · see citing works

The Autistic Spectrum Disorders (ASD): From the Clinics to the Molecular Analysis

Roubertoux, P. L., & Tordjman, S. (2014) · Neuromethods · doi:10.1007/978-1-4939-2250-5_2 · Cited by 4 · see citing works

Defensive and offensive behaviours in a Kleefstra syndrome mouse model

Alonso, A., Samanta, A., van der Meij, J., van den Brand, L., Negwer, M., Navarro‐Lobato, I., & Genzel, L. (2023) · Animal Cognition · doi:10.1007/s10071-023-01757-2 · Cited by 3 · see citing works

Doctor of Philosophy (PhD)

Biss, M. (2015) · Cited by 3 · see citing works

Advances in genetic mechanisms and precision medicine research for cleft lip and palate

Yu, Z., Feng, C., Li, T., Duan, H., & Zhang, H. (2026) · Gene · doi:10.1016/j.gene.2026.150045 · Cited by 2 · see citing works

An Updated Review on the Significance of DNA and Protein Methyltransferases and De-methylases in Human Diseases: From Molecular Mechanism to Novel Therapeutic Approaches

Ghanbari, M., Khosroshahi, N. S., Alamdar, M., Abdi, A., Aghazadeh, A., Feizi, M. A. H., & Haghi, M. (2023) · Current Medicinal Chemistry · doi:10.2174/0929867330666230607124803 · Cited by 2 · see citing works

Epigenomic mechanisms and episignature biomarkers in rare diseases

McConkey, H., & Sadiković, B. (2023) · Elsevier eBooks · doi:10.1016/b978-0-443-21863-7.00012-3 · Cited by 2 · see citing works

Highlighting cardiovascular manifestations of kleefstra syndrome: literature review and clinical insights

Xie, H., He, P., Sheng, Q., Ma, W., Gong, Y., Zhang, Y., & Qiu, L. (2025) · BMC Cardiovascular Disorders · doi:10.1186/s12872-025-04610-1 · Cited by 2 · see citing works

Brain-on-a chip technologies for investigating neuronal diseases: Toward precision medicine applications

Frega, M., Mossink, B., Linda, K., Keller, J., Schubert, D., & Kasri, N. N. (2018) · IEEE International Symposium on Circuits and Systems proceedings · doi:10.1109/iscas.2018.8351848 · Cited by 2 · see citing works

Epigenetic Factors in Normal and Pathological Neuronal Development

Broucqsault, N., Badja, C., Gaillard, M.-C., & Magdinier, F. (2014) · Neuromethods · doi:10.1007/978-1-4939-2250-5_7 · Cited by 1 · see citing works

Constructing knowledge: semantic memories in mice

Schut, E. H. S. (2019) · Radboud Repository (Radboud University)

The Object Space Task reveals a dissociation between semantic-like and episodic-like memory in a mouse model of Kleefstra SyndromePreprint

Schut, E. H. S., Alonso, A., Smits, S., Khamassi, M., Samanta, A., Negwer, M., Kasri, N. N., Navarro‐Lobato, I., & Genzel, L. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/781054

Dysregulation of NRSF/REST via EHMT1 is associated with psychiatric disordersPreprint

Alsaqati, M., Davis, B. A., Wood, J., Jones, M., Jones, L., Westwood, A., Petter, O., Isles, A. R., Linden, D. E. J., van den Bree, M. B. M., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.04.26.441439

Defensive and offensive behaviors in social interaction settings in a Kleefstra syndrome mouse modelPreprint

Alonso, A., Samanta, A., van der Meij, J., van den Brand, L., Negwer, M., Navarro‐Lobato, I., & Genzel, L. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.02.03.478985

Type XXII collagen

Kehlet, S. N., Jessen, H., & Karsdal, M. A. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-817068-7.00022-7

Epigenetic signatures that maintain stemness in pluripotent and mesenchymal stem cells

Bhattacharya, A., Olson, M. T., & Singhal, S. (2023) · Elsevier eBooks · doi:10.1016/b978-0-12-823931-5.00025-6

The first clinical report of Kleefstra syndrome in an omani patient with classical phenotype

Al‐Araimi, M. (2023) · Open Journal of Clinical and Medical Case Reports · doi:10.52768/2379-1039/2011

Type XXII collagen

Madsen, E. A., Thorlacius‐Ussing, J., Jessen, H., Kehlet, S. N., & Karsdal, M. A. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-15617-5.00018-4

Whole-brain clearing reveals region- and cell type-specific imbalances in inhibitory neurons in a mouse model for Kleefstra SyndromePreprint

Negwer, M., van der Werf, I., Oudakker, A. R., van Bokhoven, H., Schubert, D., & Kasri, N. N. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.09.15.676416

De novo EHMT2 variants cause an autosomal dominant EHMT2 -related Kleefstra syndrome via loss of G9a methyltransferase activityPreprint

Hnı́zda, A., Martínez–Delgado, B., Sánchez-Ponce, D., Alonso, J., Amiel, J., Attié‐Bitach, T., Bada-Navarro, A., Baladrón, B., Bermejo, E., Brinsa, V., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.09.25.678439

Differential genetic analysis of ectrodactyly in a Fanconi anemia pedigree with FANCA mutations

Zhang, J.-H., Xu, Z.-Y., Yu, H.-P., Wang, R.-L., Zhu, J., Geng, Z., Chen, L., Ruan, D., Huang, F.-M., Gao, M.-Z., et al. (2026) · MedScience · doi:10.1007/s11684-026-1202-6

Optimisation de la différenciation neuronale et musculaire de cellules pluripotentes induites humaines pour la modélisation des maladies rares : exemple du syndrome de DiGeorge

Badja, C. (2015) · theses.fr (ABES) · doi:10.70675/a4483a23z2b5dz4594zb5b2z73a07d60bfec

Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndrome

Balemans, M. C. M., Kasri, N. N., Kopanitsa, M. V., Afinowi, N. O., Ramakers, G. J. A., Peters, T. A., Beynon, A. J., Janssen, S. M., van Summeren, R. C. J., Eeftens, J. M., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds490 · Cited by 76 · see citing works

EHMT2 LOSS-OF-FUNCTION ALTERATIONS CAUSE A KLEEFSTRA-LIKE SYNDROMEPreprint

Martínez–Delgado, B., Martín, E. L., Kerkhof, J., Baladrón, B., Mielu, L. M., Sánchez-Ponce, D., Bada-Navarro, A., Herrero-Matesanz, M., López, L., Rzasa, J., et al. (2024) · medRxiv · doi:10.1101/2024.01.10.24300997 · Cited by 3 · see citing works

A novel de novo frameshift deletion in EHMT 1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation

Blackburn, P. R., Williams, M., Cousin, M. A., Boczek, N. J., Beek, G. J., Lomberk, G. A., Urrutia, R. A., Babovic‐Vuksanovic, D., & Klee, E. W. (2017) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.268 · Cited by 10 · see citing works

Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome

Iacono, G. L., Dubos, A., Méziane, H., Benevento, M., Habibi, E., Mandoli, A., Riet, F., Selloum, M., Feil, R., Zhou, H., et al. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky196 · Cited by 45 · see citing works

Reversible white matter lesions associated with mutant EHMT1 and Kleefstra syndrome

He, X., Caluseriu, O., Srivastava, R., Denny, A. M., & Bolduc, F. V. (2016) · Neurology Genetics · doi:10.1212/nxg.0000000000000058 · Cited by 8 · see citing works