Genetic and Epigenetic Networks in Intellectual Disabilities

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999) · Nature Genetics · doi:10.1038/13810 · Cited by 4,990

No health without mental health

Prince, M. J., Patel, V., Saxena, S., Maj, M., Maselko, J., Phillips, M. R., & Rahman, A. (2007) · The Lancet · doi:10.1016/s0140-6736(07)61238-0 · Cited by 4,028

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., Church, D. M., Crolla, J. A., Eichler, E. E., Epstein, C. J., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.006 · Cited by 2,882

AMPA Receptor Trafficking and Synaptic Plasticity

Malinow, R., & Malenka, R. C. (2002) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.25.112701.142758 · Cited by 2,588

Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome

Liaw, D., Marsh, D. J., Li, J., Dahia, P. L. M., Wang, S. I., Zheng, Z., Bose, S., Call, K. M., Tsou, H. C., Peacoke, M., et al. (1997) · Nature Genetics · doi:10.1038/ng0597-64 · Cited by 2,067

Functional impact of global rare copy number variation in autism spectrum disorders

Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., et al. (2010) · Nature · doi:10.1038/nature09146 · Cited by 2,013

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

Study, P. A. R. I. S., Jamain, S., Quach, H., Betancur, C., Råstam, M., Colineaux, C., Gillberg, I. C., Soderstrom, H., Giros, B., Leboyer, M., et al. (2003) · Nature Genetics · doi:10.1038/ng1136 · Cited by 1,851

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Tartaglia, M., Mehler, E. L., Goldberg, R. B., Zampino, G., Brunner, H. G., Kremer, H., van der Burgt, I., Crosby, A. H., Ion, A., Jeffery, S., et al. (2001) · Nature Genetics · doi:10.1038/ng772 · Cited by 1,736

Common variants conferring risk of schizophrenia

†Genetic Risk and Outcome in Psychosis (GROUP), Stefansson, H., Ophoff, R. A., Steinberg, S., Andreassen, O. A., Cichon, S., Rujescu, D., Werge, T., Pietiläinen, O. P. H., Mors, O., et al. (2009) · Nature · doi:10.1038/nature08186 · Cited by 1,677

Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability

İşerı̇, S. A. U., Yücesan, E., Tuncer, F. N., Çalık, M., Kesim, Y., Uzun, G. A., & Özbek, U. (2019) · Journal of Human Genetics · doi:10.1038/s10038-019-0570-z · Cited by 15

Functional and Structural Changes in the Membrane-Bound O-Acyltransferase Family Member 7 (MBOAT7) Protein: The Pathomechanism of a Novel MBOAT7 Variant in Patients With Intellectual Disability

Lee, J., Shamim, A., Park, J.-H., Jang, J., Kim, J. H., Kwon, J., Kim, J., Kim, K. K., & Lee, J. (2022) · Frontiers in Neurology · doi:10.3389/fneur.2022.836954 · Cited by 15

Chromatin regulators in neurodevelopment and disease: Analysis of fly neural circuits provides insights

Taniguchi, H., & Moore, A. W. (2014) · BioEssays · doi:10.1002/bies.201400087 · Cited by 17

Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis

Gu, Y., Xiang, B., Zhu, L., Ma, X., Chen, X., & Cai, T. (2020) · BMC Medical Genetics · doi:10.1186/s12881-020-01042-w · Cited by 14

Novel mutation in the MED23 gene for intellectual disability: A case report and literature review

Hashemi‐Gorji, F., Fardaei, M., Tabei, K., & Miryounesi, M. (2019) · Clinical Case Reports · doi:10.1002/ccr3.1942 · Cited by 14

Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

Polla, D. L., Rahikkala, E., Bode, M. K., Määttä, T., Varilo, T., Loman, T., Philips, A. K., Kurki, M., Palotie, A. V., Körkkö, J., et al. (2019) · European Journal of Human Genetics · doi:10.1038/s41431-019-0383-8 · Cited by 14

Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report

Xu, X., Lu, F., Zhang, L., Li, H., Du, S., & Tang, J. (2021) · BMC Pediatrics · doi:10.1186/s12887-021-02860-4 · Cited by 14

The Role of Human-Specific Gene Duplications During Brain Development and Evolution

Sassa, T. (2013) · Journal of Neurogenetics · doi:10.3109/01677063.2013.789512 · Cited by 15

Deeper, longer phenotyping to accelerate the discovery of the genetic architectures of diseases

Kohane, I. S. (2014) · Genome biology · doi:10.1186/gb4175 · Cited by 13

MapReduce Algorithms for Inferring Gene Regulatory Networks from Time-Series Microarray Data Using an Information-Theoretic Approach

Abduallah, Y., Turki, T., Byron, K., Du, Z., Cervantes‐Cervantes, M., & Wang, J. T. L. (2017) · BioMed Research International · doi:10.1155/2017/6261802 · Cited by 13

Two Algorithms for High-throughput and Multi-parametric Quantification of Drosophila Neuromuscular Junction Morphology

Castells‐Nobau, A., Nijhof, B., Eidhof, I., Wolf, L., Gooyert, J. M. S.-D., Monedero, I., Torroja, L., van der Laak, J. A. W. M., & Schenck, A. (2017) · Journal of Visualized Experiments · doi:10.3791/55395 · Cited by 15

Cellular Models and High-Throughput Screening for Genetic Causality of Intellectual Disability

Fell, C. W., & Nagy, V. (2021) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2020.12.003 · Cited by 14

Differential DNA methylation by early versus late parenteral nutrition in the PICU: a biological basis for its impact on emotional and behavioral problems documented 4 years later

Jacobs, A., Güiza, F., Verlinden, I., Dulfer, K., Guerra, G. G., Joosten, K. F. M., Verbruggen, S. C. A. T., Vanhorebeek, I., & den Berghe, G. V. (2021) · Clinical Epigenetics · doi:10.1186/s13148-021-01124-3 · Cited by 13

FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorder

Fell, C. W., Hagelkrüys, A., Cicvaric, A., Horrer, M., Liu, L., Li, J. S. S., Stadlmann, J., Polyansky, A. A., Mereiter, S., Tejada, M. A., et al. (2022) · EMBO Molecular Medicine · doi:10.15252/emmm.202215829 · Cited by 13

The disease-associated proteins Drosophila Nab2 and Ataxin-2 interact with shared RNAs and coregulate neuronal morphology

Rounds, J. C., Corgiat, E. B., Ye, C., Behnke, J. A., Kelly, S. M., Corbett, A. H., & Moberg, K. H. (2021) · Genetics · doi:10.1093/genetics/iyab175 · Cited by 12

Psychiatric Disorders in People With Intellectual Disabilities

Dykens, E. M. (2016) · International review of research in developmental disabilities · doi:10.1016/bs.irrdd.2016.06.002 · Cited by 12

Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice

Ballesta‐Martínez, M. J., Pérez‐Fernández, V., López‐González, V., Sánchez-Soler, M. J., Serrano-Antón, A. T., Rodríguez-Peña, L., Barreda‐Sánchez, M., Armengol-Dulcet, L., & Guillén‐Navarro, E. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02809-z · Cited by 14

MicroRNA-338 modulates cortical neuronal placement and polarity

Kos, A., de Mooij-Malsen, A. J., van Bokhoven, H., Kaplan, B. B., Martens, G. J. M., Kolk, S. M., & Aschrafi, A. (2017) · RNA Biology · doi:10.1080/15476286.2017.1325067 · Cited by 12

Caregiver‐reported characteristics of children diagnosed with pathogenic variants in KDM5C

Hatch, H. A. M., O'Neil, M. H., Marion, R. W., Secombe, J., & Shulman, L. H. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62381 · Cited by 12

RNA Sequencing of Creatine Transporter (SLC6A8) Deficient Fibroblasts Reveals Impairment of the Extracellular Matrix

Nota, B., Ndika, J., van de Kamp, J. M., Kanhai, W. A., van Dooren, S. J. M., van de Wiel, M. A., Pals, G., & Salomons, G. S. (2014) · Human Mutation · doi:10.1002/humu.22609 · Cited by 13

Autism spectrum disorder model mice: Focus on copy number variation and epigenetics

Nakai, N., Otsuka, S., Myung, J., & Takumi, T. (2015) · Science China Life Sciences · doi:10.1007/s11427-015-4891-7 · Cited by 11

The role of altered translation in intellectual disability and epilepsy

Malone, T. J., & Kaczmarek, L. K. (2022) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2022.102267 · Cited by 12

Genetics of Recessive Cognitive Disorders

Kahrizi, K., & Najmabadi, H. (2015) · Wiley eBooks · doi:10.1002/9780470015902.a0025835 · Cited by 11

The intellectual developmental disorders Mexico study: situational diagnosis, burden, genomics and intervention proposal

Lazcano-Ponce, E. C., Katz, G., Rodríguez‐Valentín, R., de Castro, F., Allen‐Leigh, B., Márquez-Caraveo, M. E., Ramírez-García, M. Á., Arroyo-García, E., Medina‐Mora, M. E., Angeles, G., et al. (2016) · Salud Pública de México · doi:10.21149/spm.v58i6.8267 · Cited by 10

Intellectual Disabilities and Global Developmental Delay

Pinchefsky, E. F., & Shevell, M. I. (2017) · Springer eBooks · doi:10.1007/978-3-319-57196-6_2 · Cited by 10

Genomic Variation, Evolvability, and the Paradox of Mental Illness

Gualtieri, C. T. (2021) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2020.593233 · Cited by 11

High-Throughput Sequencing and Rare Genetic Diseases

Makrythanasis, P., & Antonarakis, S. E. (2012) · Molecular Syndromology · doi:10.1159/000343941 · Cited by 10

A de novo DDX3X Variant Is Associated With Syndromic Intellectual Disability: Case Report and Literature Review

Chen, Y., Liu, K.-Y., Yang, Z., Li, X., Xu, R., & Zhou, H. (2020) · Frontiers in Pediatrics · doi:10.3389/fped.2020.00303 · Cited by 9

Urine Organic Acids as Metabolic Indicators for Global Developmental Delay/Intellectual Disability in Chinese Children

Chen, B., Zhan, Y., Kessi, M., Chen, S., Xiong, J., Deng, X., Yang, L., Peng, J., Yin, F., & He, F. P. (2021) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2021.792319 · Cited by 9

Development and Developmental Disorders of the Cerebral Cortex

ten Donkelaar, H. J., Lammens, M. M. Y., Aronica, E., van Bokhoven, H., Ulzen, K. K.-V., & Hori, A. (2014) · Springer eBooks · doi:10.1007/978-3-642-54687-7_10 · Cited by 9

Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond

Barili, V., Ambrosini, E., Uliana, V., Bellini, M., Vitetta, G., Martorana, D., Cannizzaro, I. R., Taiani, A., Sensi, E. D., Caggiati, P., et al. (2023) · Genes · doi:10.3390/genes14061241 · Cited by 11

From Single-SNP to Wide-Locus: Genome-Wide Association Studies Identifying Functionally Related Genes and Intragenic Regions in Small Sample Studies

Wittkowski, K. M., Sonakya, V., Song, T., Seybold, M. P., Keddache, M. A., & Durner, M. (2013) · Pharmacogenomics · doi:10.2217/pgs.13.28 · Cited by 9

Association of TUSC3 gene polymorphisms with non-syndromic mental retardation based on nuclear families in the Qinba mountain area of China

Zhang, M. J., Xing, L. X., Cui, M., Yang, X., Shi, J., Li, J., Zhang, K., Zheng, Z. J., Zhang, F. C., Li, J. L., et al. (2015) · Genetics and Molecular Research · doi:10.4238/2015.may.12.5 · Cited by 9

Forebrain neurogenesis: From embryo to adult.

Dennis, D. J., Picketts, D. J., Slack, R. S., & Schuurmans, C. (2016) · PubMed · Cited by 9

Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

Polla, D. L., Fard, M. A. F., Tabatabaei, Z., Habibzadeh, P., Levchenko, O. A., Nikuei, P., Makrythanasis, P., Hussain, M., Hardenberg, S. V., Zeinali, S., et al. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01133-w · Cited by 9

Sleep problems in individuals with genetic disorders associated with intellectual disability

Maas, A. P. H. M. (2014) · doi:10.26481/dis.20140227am · Cited by 8

Nitric oxide and peroxynitrite as new biomarkers for early diagnosis of autism

Khan, A. A., & Dewald, H. D. (2025) · Brain Research · doi:10.1016/j.brainres.2024.149438 · Cited by 7

Epigenomic Mechanisms of Human Developmental Disorders

Aref‐Eshghi, E., Schenkel, L. C., Carere, D. A., Rodenhiser, D. I., & Sadiković, B. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-812215-0.00027-3 · Cited by 7

Novel Insight Into Intellectual Disability; A Review Article

Parsamanesh, N., & Miri‐Moghaddam, E. (2018) · Gene Cell and Tissue · doi:10.5812/gct.84401 · Cited by 8

Epigenetic Epidemiology of Autism and Other Neurodevelopmental Disorders

Wang, S. E., & Jiang, Y. (2022) · Springer eBooks · doi:10.1007/978-3-030-94475-9_17 · Cited by 8

Epilepsy surgery for children with severe developmental delay: An ethical double jeopardy

Yan, H., Snead, C., & Ibrahim, G. M. (2018) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2018.10.040 · Cited by 6

Global Developmental Delay and Intellectual Disability

Srour, M., & Shevell, M. I. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-410529-4.00014-0 · Cited by 6

Whole-Transcriptome Analysis Reveals Dysregulation of Actin-Cytoskeleton Pathway in Intellectual Disability Patients

InanlooRahatloo, K., Peymani, F., Kahrizi, K., & Najmabadi, H. (2019) · Neuroscience · doi:10.1016/j.neuroscience.2019.01.029 · Cited by 5

Epigenetics in intellectual disability

Jakub, T. E., Quesnel, K., Keung, C., Bérubé, N. G., & Kramer, J. M. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-823577-5.00030-1 · Cited by 5

FarmApp: a new assessment of cognitive control and memory for children and young people with neurodevelopmental difficulties

Brkić, D., Ng‐Cordell, E., O’Brien, S., Martin, J. A., Scerif, G., Astle, D. E., & Baker, K. (2022) · Child Neuropsychology · doi:10.1080/09297049.2022.2054968 · Cited by 5

Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery

Saghi, M., InanlooRahatloo, K., Alavi, A., Kahrizi, K., & Najmabadi, H. (2022) · BMC Medical Genomics · doi:10.1186/s12920-022-01237-5 · Cited by 5

Knockdown of Chronophage in the nervous system mimics features of neurodevelopmental disorders caused by BCL11A/B variants

Yamaguchi, M., Huynh, M. A., Chiyonobu, T., & Yoshida, H. (2023) · Experimental Cell Research · doi:10.1016/j.yexcr.2023.113827 · Cited by 5

Rearrangement structure-independent strategy of CNV breakpoint analysis

Xiao, J., Zhang, L., Wang, J., Jiang, Y., Jin, L., Lu, J., Li, J., Zhong, C., Xu, X., & Zhang, F. (2014) · Molecular Genetics and Genomics · doi:10.1007/s00438-014-0850-4 · Cited by 5

Safety Considerations for Epigenetic Mechanisms as Drug Targets: Are Existing Toxicology Studies Fit for Purpose?

Butler, P., Lawton, M. P., Chapin, R. E., Hollingshead, B. D., Leach, K. L., Nambiar, P. R., Pletcher, M. T., & Yang, A. H. (2015) · Royal Society of Chemistry eBooks · doi:10.1039/9781782628484-00288 · Cited by 5

Genomic imbalances defining novel intellectual disability associated loci

Lopes, F., Torres, F., Soares, G., Barbosa, M., Silva, J. S., Duque, F., Rocha, M. G., Sá, J., Oliveira, G., Sá, M. J. N., et al. (2019) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-019-1135-0 · Cited by 5

Strict network analysis of evolutionary conserved and brain-expressed genes reveals new putative candidates implicated in Intellectual Disability and in Global Development Delay

Piergiorge, R. M., de Vasconcelos, A. T. R., Pimentel, M. M. G., & Santos-Rebouças, C. B. (2020) · The World Journal of Biological Psychiatry · doi:10.1080/15622975.2020.1821916 · Cited by 5

Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders

van der Werf, I. M., Jansen, S., de Vries, P. F., Gerstmans, A., van de Vorst, M., Dijck, A. V., Vries, B. B. A. D., Gilissen, C., Hoischen, A., Vissers, L. E. L. M., et al. (2020) · European Journal of Human Genetics · doi:10.1038/s41431-020-0682-0 · Cited by 6

Contribution of rare and common variants to intellectual disability in a high-risk population sub-isolate of Northern FinlandPreprint

Kurki, M., Saarentaus, E., Pietiläinen, O. P. H., Gormley, P., Lal, D., Kerminen, S., Torniainen‐Holm, M., Hämäläinen, E., Rahikkala, E., Keski‐Filppula, R., et al. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/332023 · Cited by 5

Disruption of the transcription factor NEUROD2 causes an autism syndrome via cell-autonomous defects in cortical projection neuronsPreprint

Runge, K., Mathieu, R., Bugeon, S., Lafi, S., Beurrier, C., Sahu, S., Schaller, F., Loubat, A., Hérault, L., Gaillard, S., et al. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/296889 · Cited by 6

Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder

Brügger, M., Brunet, T., Wagner, M., Orec, L. E., Schwaibold, E. M. C., & Boy, N. (2020) · Gene · doi:10.1016/j.gene.2020.145260 · Cited by 4

Avances en genética clínica y sus retos actuales

Santos‐Simarro, F. (2022) · Anales de Pediatría · doi:10.1016/j.anpedi.2022.08.007 · Cited by 4

Cell consequences of loss of function of the epigenetic factor EHMT1

Iglesias-Ortega, L., Megías-Fernández, C., Domínguez-Giménez, P., Jimeno-González, S., & Rivero, S. (2023) · Cellular Signalling · doi:10.1016/j.cellsig.2023.110734 · Cited by 4

From GWAS to Next-Generation Sequencing on Human Complex Diseases: The Implications for Translational Medicine and Therapeutics

Qin, H.-D., Scott, A. F., Wang, H. Z., & Shugart, Y. Y. (2012) · Translational bioinformatics · doi:10.1007/978-94-007-5558-1_10 · Cited by 4

The molecular basis of cognitive deficits in pervasive developmental disorders: Table 1.Preprint

Bhattacharya, A., & Klann, E. (2012) · Learning & Memory · doi:10.1101/lm.025007.111 · Cited by 4

Using Chromatin Immunoprecipitation (ChIP) to Study the Chromatin State inDrosophilaPreprint

Du, C., & Volkan, P. (2024) · Cold Spring Harbor Protocols · doi:10.1101/pdb.top108139 · Cited by 4

Pathogenic KIF5C mutation disrupts dendritic spine maturation and mitochondrial trafficking in neurodevelopmental disorders

Wang, X., Ye, L., Banerjee, S., Feng, J., Liao, T., Wang, Z., Qin, J., Luo, J., Yang, W., Xu, J., et al. (2025) · Neurobiology of Disease · doi:10.1016/j.nbd.2025.107196 · Cited by 3

Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans

Bonardi, C. M., Møller, R. S., Ruiz-Reig, N., Chai, G., Madsen, C. G., Bayat, A., Hammer, T. B., Fenger, C., Gardella, E., Gawliński, P., et al. (2026) · Nature Communications · doi:10.1038/s41467-025-67576-w · Cited by 3

Genetic analysis of BRPF1 exon deletion variant causing intellectual developmental disorder with dysmorphic facies and ptosis in a Chinese family

Liu, Q., Li, F., Wang, N., & Fan, Z. (2024) · Egyptian Journal of Medical Human Genetics · doi:10.1186/s43042-024-00539-w · Cited by 3

Disturbances of endoplasmic reticulum proteostasis in neurodevelopmental disorders

Medinas, D. B., Pereira, N., Pereira, R., da Silva, G. R., & Santos, V. H. S. (2025) · Biochemical Society Transactions · doi:10.1042/bst20253035 · Cited by 3

Emerging Role of Epigenetics in Human Neurodevelopmental Disorders

Mastrototaro, G., & Sessa, A. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-812215-0.00009-1 · Cited by 3

Behavioral Testing Design for Evaluation of Cognitive Disabilities

Riet, F., Mittelhaeuser, C., Lux, A., Bour, R., Selloum, M., Sorg, T., Hérault, Y., & Méziane, H. (2022) · Current Protocols · doi:10.1002/cpz1.382 · Cited by 3

Advances in clinical genetics and its current challenges

Santos‐Simarro, F. (2022) · Anales de Pediatría (English Edition) · doi:10.1016/j.anpede.2022.08.009 · Cited by 3

Emerging role of epigenetics in human neurodevelopmental disorders

Mastrototaro, G., Sessa, A., & Zaghi, M. (2023) · Elsevier eBooks · doi:10.1016/b978-0-443-18661-5.00022-1 · Cited by 3

Identification of a DLG3 stop mutation in the MRX20 family

Huyghebaert, J., Mateiu, L. M., Elinck, E., Rossem, K. E. V., Christiaenssen, B., D’Incal, C. P., McCormack, M. K., Lazzarini, A. M., Vandeweyer, G., & Kooy, R. F. (2024) · European Journal of Human Genetics · doi:10.1038/s41431-024-01537-7 · Cited by 3

Definition and Diagnosis

Cervantes, P. E., Shalev, R. A., & Donnelly, L. (2019) · Autism and child psychopathology series · doi:10.1007/978-3-030-20843-1_3 · Cited by 3

Savant Skills, Special Skills, and Intelligence Vary Widely in Autism

Waterhouse, L. H. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-415961-7.00006-x · Cited by 3

White–Sutton syndrome with hot water epilepsy and coexistence of SHOX gene variations

Türay, S., & Eröz, R. (2021) · Acta Neurologica Belgica · doi:10.1007/s13760-021-01671-9 · Cited by 3

Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability

Zhu, D., Wang, M., Xu, Y., Zhang, J., Yang, F., & Yang, Z. (2022) · Neurogenetics · doi:10.1007/s10048-022-00691-8 · Cited by 3

Doctor of Philosophy (PhD)

Biss, M. (2015) · Cited by 3

De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disordersPreprint

Sjaarda, C. P., Kaiser, B., McNaughton, A. J. M., Hudson, M. L., Harris-Lowe, L., Lou, K., Guerin, A. A., Ayub, M., & Liu, X. (2020) · Molecular Case Studies · doi:10.1101/mcs.a004721 · Cited by 3

U2AF2 Missense Variant Associated With Epilepsy and Systemic Dysmorphism: Report of Two Cases and Literature Review

Huang, S., Li, M., Yuan, H., Han, Y., Chen, X., Su, Y., & Li, X. (2025) · Clinical Case Reports · doi:10.1002/ccr3.71182 · Cited by 2

Global developmental delay and intellectual disability

Srour, M., AlHakeem, A., & Shevell, M. I. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-813955-4.00019-2 · Cited by 2

Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families

Skoczylas, S., Jakiel, P., Płoszaj, T., Gadzalska, K., Borowiec, M., Pastorczak, A. K., Moczulska, H., Malarska, M., Eckersdorf-Mastalerz, A., Budzyńska, E., et al. (2023) · Neurogenetics · doi:10.1007/s10048-023-00724-w · Cited by 2

Development and Developmental Disorders of the Cerebral Cortex

ten Donkelaar, H. J., Vasung, L., Molnár, Z., Aronica, E., Lammens, M. M. Y., van Bokhoven, H., Ulzen, K. K.-V., & Hori, A. (2023) · Springer eBooks · doi:10.1007/978-3-031-26098-8_10 · Cited by 3

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

Single nucleotide polymorphism array analysis of 102 patients with developmental delay and/or intellectual disability from Fujian, China

Liang, B., Wang, Y., Lin, N., Huang, H., Chen, L., Chen, M., Yu, D., Chen, X., He, D., & Xu, L. (2020) · Clinica Chimica Acta · doi:10.1016/j.cca.2020.08.032 · Cited by 2

Neurodevelopmental Disabilities: Global Developmental Delay, Intellectual Disability, and Autism

Moeschler, J. B. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.05510-0 · Cited by 2

Epigenetics in Intellectual Disability

Bérubé, N. G., & Kramer, J. M. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-417114-5.00018-8 · Cited by 2

The genetic cause of intellectual deficiency and/or congenital malformations in two parental reciprocal translocation carriers and implications for assisted reproduction

Cheng, D., Yuan, S., Hu, L., Yi, D., Luo, K., Gong, F., Lu, C., Lu, G., Lin, G., & Tan, Y.-Q. (2020) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-020-01986-1 · Cited by 2

Intellectual Disabilities

Matson, J. L., & Cervantes, P. E. (2018) · Oxford University Press eBooks · doi:10.1093/oxfordhb/9780190634841.013.12 · Cited by 2

Neurodevelopmental Disabilities

Moeschler, J. B. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00045-8 · Cited by 2

Do metabolic deficits contribute to sleep disruption in monogenic intellectual disability syndromes?

Valencia, M. L., Sofela, F. A., Jongens, T. A., & Sehgal, A. (2024) · Trends in Neurosciences · doi:10.1016/j.tins.2024.06.006 · Cited by 2

Modeling and Analysis of Intracellular Signaling Pathways

Smolen, P. D., Baxter, D. A., & Byrne, J. H. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-397179-1.00006-3 · Cited by 2

Genes containing hexanucleotide repeats resembling C9ORF72 and expressed in the central nervous system are frequent in the human genome

Vourc’h, P., Wurmser, F., Brulard, C., Mouzat, K., Kassem, S. B., Dangoumau, A., Laumonnier, F., Blasco, H., Corcia, P., & Andres, C. R. (2020) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2020.07.027 · Cited by 2

Intelligence

Kanai, C., Toth, G., Itahashi, T., Hashimoto, R., & Kato, N. (2016) · Autism and child psychopathology series · doi:10.1007/978-3-319-27171-2_20 · Cited by 2

Critical periods and neurodevelopmental brain disorders

Meredith, R. M. (2016) · Wiley eBooks · doi:10.1002/9781118931684.ch4 · Cited by 2

A Clinical Prediction Model for Genetic Risk in Children with GDD/ID: A Retrospective Study

Jiang, Y., Chen, R., Chen, M., Peng, L., Zhao, Y., Li, R., & Li, X. (2025) · Pediatric Reports · doi:10.3390/pediatric18010001 · Cited by 1

Med13 is involved in the radial migration and contralateral projection of cortical neurons via PlxnA4

Li, Z.-X., Tu, S., Li, Y.-W., Hu, Z.-B., Liu, W.-T., Tao, Y.-C., Zhao, L., Song, N.-N., Chen, J.-Y., Zhang, Q., et al. (2026) · Communications Biology · doi:10.1038/s42003-026-09704-w · Cited by 1

Principles Driving the Spatial Organization of Rho GTPase Signaling at Synapses

Soderling, S. H., & Aelst, L. V. (2014) · Springer eBooks · doi:10.1007/978-3-7091-1806-1_17 · Cited by 1

Possible association between common variants of the phenylalanine hydroxylase (PAH) gene and memory performance in healthy adults

Teraishi, T., Sasayama, D., Hori, H., Yamamoto, N., Fujii, T., Matsuo, J., Nagashima, A., Kinoshita, Y., Hattori, K., Ota, M., et al. (2013) · Behavioral and Brain Functions · doi:10.1186/1744-9081-9-30 · Cited by 1

Mikrozephalie bei psychomotorischen Entwicklungsstörungen und geistiger Behinderung

Zweier, C. (2015) · Medizinische Genetik · doi:10.1007/s11825-015-0072-0 · Cited by 1

RELATIONSHIP BETWEEN C677T METHYLENETETRAHYDROFOLATE REDUCTASE GENE POLYMORPHISM AND HOMOCYSTEINE IN CEREBRAL PALSY

Gamayani, U., Machfoed, M. H., Idjradinata, P. S., & Achmad, T. H. (2016) · International Journal of Integrated Health Sciences · doi:10.15850/ijihs.v4n1.682 · Cited by 1

Increasing Prevalence and the Problem of Diagnosis

Waterhouse, L. H. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-415961-7.00007-1 · Cited by 2

Tissue-specific DNase I footprint analysis confirms the association of GATAD2B Q470* variant with intellectual disability

Nikam, V., & Naushad, S. M. (2021) · Journal of Genetics · doi:10.1007/s12041-021-01308-z · Cited by 1

Genetic diagnostic approach to intellectual disability and multiple congenital anomalies in Indonesia

Sihombing, N. R. B., Winarni, T. I., de Leeuw, N., van Bon, B. W. M., van Bokhoven, H., & Faradz, S. M. (2023) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2023.01001 · Cited by 1

Epigenetics in Intellectual Disability

Bérubé, N. G., & Kramer, J. M. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-417114-5.00018-8 · Cited by 2

Therapeutic validation and targeting of signalling networks that are dysregulated in intellectual disability

Bustos, F., & Findlay, G. M. (2022) · FEBS Journal · doi:10.1111/febs.16411 · Cited by 1

Gene networks associated with non-syndromic intellectual disability

Lee, S., Rudd, S. A., Gratten, J., Visscher, P. M., Prins, J. B., & Dawson, P. A. (2017) · Journal of Neurogenetics · doi:10.1080/01677063.2017.1404058 · Cited by 20

IDGenetics: a comprehensive database for genes and mutations of intellectual disability related disorders

Chen, C., Chen, D., Xue, H., Liu, X., Zhang, T., Tang, S., Li, W., & Xu, X. (2018) · Neuroscience Letters · doi:10.1016/j.neulet.2018.08.027 · Cited by 11

Genetic studies in intellectual disability and related disorders

Vissers, L. E. L. M., Gilissen, C., & Veltman, J. A. (2016) · Nature Reviews Genetics · doi:10.1038/nrg3999 · Cited by 761