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

Epigenetic causes of intellectual disability—the fragile X syndrome paradigm

Tabolacci, E., & Neri, G. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-18516-8.00007-7 · Cited by 1

No association between FGD1 gene polymorphisms and intellectual developmental disability in the Qinba mountain area

Li, J. L., Li, Y. J., Zhang, K., Lan, L., Shi, J., Yang, X., Zhang, M. J., Zhang, F. C., & Gao, X. (2014) · Genetics and Molecular Research · doi:10.4238/2014.january.10.3 · Cited by 1

Ethical Implications of Behavioral Genetics on Education

Schenker, V. J., & Petrill, S. A. (2017) · Cambridge University Press eBooks · doi:10.1017/9781316340301.010 · Cited by 1

Causes and Symptoms

Shaw, S. R., & Jankowska, A. M. (2018) · Pediatric school psychology · doi:10.1007/978-3-030-02992-0_2 · Cited by 1

Neurodevelopmental Disabilities

Moeschler, J. B. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-812536-6.00003-1 · Cited by 1

Intelligenzminderung

Häßler, F. (2017) · Springer eBooks · doi:10.1007/978-3-662-49295-6_81 · Cited by 1

Synaptic Disorders

Betancur, C., & Mitchell, K. J. (2015) · Wiley eBooks · doi:10.1002/9781118524947.ch9 · Cited by 1

Regulation of Cortical Circuit Formation

Rodríguez-Tornos, F. M., Cubelos, B., & Nieto, M. (2013) · Springer eBooks · doi:10.1007/978-4-431-54496-8_6

Ontwikkelingen in genetische diagnostiek van verstandelijke beperking

Willemsen, M. H., & Kleefstra, T. (2011) · Bijblijven · doi:10.1007/s12414-011-0078-8

Making headway with the molecular and clinical definition of rare genetic disorders with intellectual disability

Willemsen, M. H. (2012) · Radboud Repository (Radboud University)

Ade novomicrodeletion inNRXN1in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis

Agha, Z., Iqbal, Z., Kleefstra, T., Zweier, C., Pfundt, R., Qamar, R., van Bokhoven, H., & Willemsen, M. H. (2015) · Genetics Research · doi:10.1017/s001667231500021x · Cited by 1

Caracterização clínica de pacientes com deficiência intelectual sindrômica e alterações cromossômicas submicroscópicas detectadas pela análise cromossômica por microarray

Rosa, M. T. A. D. S. (2015) · RIUnB Institutional Repository (University of Brasília) · doi:10.26512/2015.07.d.18770

Psychiatric Epigenetics: A Personal Perspective

Peedicayil, J. (2016) · Journal of Clinical Epigenetics · doi:10.21767/2472-1158.100020

Genetic Risk Factors Link Autism to Many Other Disorders

Waterhouse, L. H. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-415961-7.00004-6 · Cited by 1

neurodevelopmental and psychiatric disorders

Iqbal, Z., Vandeweyer, G., van der Voet, M., Zahoor, M. Y., Besseling, J. A., Roca, L. T., Silfhout, A. T. V., Nijhof, B., Kramer, J. M., Ansar, M., et al. (2013)

Array-CGH bei Kindern mit Entwicklungsstörung oder geistiger Behinderung: Bei welcher Konstellation finden sich gehäuft klinisch relevante Chromosomenaberrationen?

Klein, N. (2017) · eDiss (Georg-August-Universität Göttingen) · doi:10.53846/goediss-6078

Family-Based Next-Generation Sequencing Analysis

Wang, X., Meng, L., & Leduc, M. S. (2017) · Springer eBooks · doi:10.1007/978-3-319-56418-0_15

Identificação da etiologia da deficiência intelectual esporádica por sequenciamento de exomas de afetados e seus pais

Carneiro, T. N. R. (2017) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/d.41.2017.tde-28032017-153312

Confirmation: A crucial step in copy number variation analysis after exome sequencing in intellectual disabilities

Heeswijk, V. C. A. M., & Bokhoven, V. H. (2016) · MaRBLe · doi:10.26481/marble.2015.v6.370

Diagnostic Testing in Epilepsy Genetics Clinical Practice

Tumiene, B., Utkus, A., Kučinskas, V., Maver, A., & Peterlin, B. (2018) · InTech eBooks · doi:10.5772/intechopen.69930

Creatine Deficiency Syndromes: A Clinical, Molecular and Functional Approach

Ndika, J. (2014) · Digital Academic REpository of VU University Amsterdam (Vrije Universiteit Amsterdam)

A contemporary view on the molecular basis of neurodevelopmental disorders

van der Werf, I. M., Vandeweyer, G., & Kooy, R. F. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-814037-6.00003-3 · Cited by 1

Histaminergic neurotransmission as a gateway for the effects of the fat sensing molecule Oleoylethanolamide

Costa, A. (2020) · Premio Tesi dottorato/Premio Tesi di dottorato · doi:10.36253/978-88-6453-995-9

Brain organoids as a model system for human neurodevelopment in health and disease

Reiner, O., & Karzbrun, E. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-814405-3.00010-2

Shared Neurodevelopmental Perturbations Can Lead to Intellectual Disability in Individuals with Distinct Rare Chromosome Duplications

Corrêa, T., Santos-Rebouças, C. B., Côrrea, M. M., Schinzel, A., & Riegel, M. (2021) · Genes · doi:10.3390/genes12050632

Response to Riccardi et al.

de Brouwer, A. P. M. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01209-7

Molecular and Genetic Basis of Intellectual Disability in Pakistani Population

Hussain, M. (2018)

Rol de la Neuroglia en el Trastorno del Espectro Autista

Vásquez, B., & del Sol, M. (2021) · International Journal of Morphology · doi:10.4067/s0717-95022021000300920 · Cited by 2

A Proposed Social Cognitive Career Development Model for Adults with Intellectual Disabilities

Giust, A. M. (2020) · doi:10.25148/etd.fidc009196

Characterization of the role of TRAPPC2/Trs20p-related and associated proteins in membrane traffic

Shahrzad, N. (2014) · Spectrum Research Repository (Concordia University)

NOVEL HOMOZYGOUS VARIANT OF TBC1 DOMAIN FAMILY MEMBER 8 GENE IN FOUR LIBYAN SIBLINGS WITH AUTISTIC SPECTRUM DISORDER AND INTELLECTUAL DISABILITY WITHOUT EPILEPSY

Zeglam, A. M., & Al-Hmadi, S. (2021) · Innovare Journal of Medical Sciences · doi:10.22159/ijms.2021.v9i6.41029

Intelligenzminderung

Häßler, F. (2015) · Springer eBooks · doi:10.1007/978-3-642-45028-0_81-1

Harnessing New Genomics Technologies to Assess Environmental Risk Factors That May Cause Heritable Genetic Disease

Beal, M. A. (2017) · Carleton University's Institutional Repository (MacOdrum Library, Carleton University) · doi:10.22215/etd/2017-11975

Probing the electrophysiological properties of patient-derived neurons across neurodevelopmental disorders

Latour, B. L., Gunnewiek, T. M. K., & Kasri, N. N. (2022) · Elsevier eBooks · doi:10.1016/b978-0-12-822277-5.00010-9

Deficiência intelectual com herança ligada ao X: estudo de irmandades com dois ou mais indivíduos afetados selecionadas pelos desvios extremos do padrão de inativação do cromossomo X materno

Hanna, M. D. (2023) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/d.41.2023.tde-09102023-114102

Investigação de alterações cromossômicas crípticas em indivíduos com deficiência intelectual idiopática

de Abreu, L. S. (2014) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.17.2014.tde-05042024-111656

Additional file 3 of Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes

Lin, L., Zhang, Y., Pan, H., Wang, J., Qi, Y., & Ma, Y. (2020) · Figshare · doi:10.6084/m9.figshare.13226362

Additional file 4 of Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes

Lin, L., Zhang, Y., Pan, H., Wang, J., Yu, Q., & Ma, Y. (2020) · Figshare · doi:10.6084/m9.figshare.13226365

Additional file 6 of Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes

Lin, L., Zhang, Y., Pan, H., Wang, J., Qi, Y., & Ma, Y. (2020) · Figshare · doi:10.6084/m9.figshare.13226371

Additional file 2 of Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes

Lin, L., Zhang, Y., Pan, H., Wang, J., Qi, Y., & Ma, Y. (2020) · Figshare · doi:10.6084/m9.figshare.13226359

Additional file 1 of 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) · Figshare · doi:10.6084/m9.figshare.16570165

Relationship between homocysteine levels, vitamin D and cognitive function in persons with intellectual disability

Đurić-Zdravković, A., Pavlovic, A. M., Soldatović, I., Popović, M., Maksić, J., Jakab, A. W., & Pavlović, D. M. (2024) · International Journal of Developmental Disabilities · doi:10.1080/20473869.2024.2410534

Global developmental delay and intellectual disability

AlMutiri, R., AlHakeem, A., Shevell, M. I., & Srour, M. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-19041-4.00004-2

Synaptic Vesicle Cycling Disorders: Cross-Sectional Phenotyping Study of a Gene Functional NetworkPreprint

Eck, J., Smith, T. A., Kolesnik, A., Al‐Jawahiri, R., & Baker, K. (2024) · medRxiv · doi:10.1101/2024.10.17.24315676

Cortex-Specific Tmem169 Deficiency Induces Defects in Cortical Neuron Development and Autism-Like Behaviors in Mice

Wang, J., Zhang, J., Li, J., Gao, Q., Chen, J., Jia, C., & Gu, X. (2025) · Journal of Neuroscience · doi:10.1523/jneurosci.1072-24.2024

Lung-specific SFTPC mutations lead to neurodevelopmental disorders with neuroinflammation

Dong, H., Zang, C., Liu, L., Guo, L., Ye, X., Li, X., Zhou, C., Sun, C., Yang, M., Wei, X., et al. (2025) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2025.151479

Epigenetics and the role of KMT2E in schizophrenia: pathways for personalized treatment

Baskys, A., Stenzel, J. G., Kim, E., Li, T. L., & Tan, J. (2025) · Elsevier eBooks · doi:10.1016/b978-0-443-18722-3.00025-6

Rights of People with Disabilities: Towards Inclusion

Pandit, S. A. (2025) · Springer eBooks · doi:10.1007/978-981-96-9685-7_5

Clinical application of CNV-seq for diagnosing abnormal brain development in children

Zhu, S., Cheng, S., Jia, C., Lin, P., Zhang, P., Wang, J., Lei, X., Liu, F., & Feng, X. (2025) · Scientific Reports · doi:10.1038/s41598-025-18350-x

Evolution of DEE-SWAS into photosensitive epilepsy in a patient with an ASH1L gene mutation

Khachatryan, R. G. (2025) · S S Korsakov Journal of Neurology and Psychiatry · doi:10.17116/jnevro2025125102114

Molecular and Clinical Characterization of Syndromes Associated With Intellectual Disability

Wentzel, C. (2013) · Uppsala University Publications (Uppsala University)

Additional file 1 of 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., Verbruggen, S. C. A. T., Vanhorebeek, I., & Van den Berghe, G. (2021) · Figshare · doi:10.6084/m9.figshare.15064572

Additional file 5 of Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes

Lin, L., Zhang, Y., Pan, H., Wang, J., Qi, Y., & Ma, Y. (2020) · Figshare · doi:10.6084/m9.figshare.13226368

Additional file 8 of Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing

Wu, R., Li, X., Meng, Z., Li, P., He, Z., & Liang, L. (2024) · Figshare · doi:10.6084/m9.figshare.26722716

Additional file 3 of Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing

Wu, R., Li, X., Meng, Z., Li, P., He, Z., & Liang, L. (2024) · Figshare · doi:10.6084/m9.figshare.26722701

Additional file 1 of 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) · Figshare · doi:10.6084/m9.figshare.26082650

Additional file 1 of Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing

Wu, R., Li, X., Meng, Z., Li, P., He, Z., & Liang, L. (2024) · Figshare · doi:10.6084/m9.figshare.25857540

Additional file 1 of 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. (2024) · Figshare · doi:10.6084/m9.figshare.26605702

Additional file 2 of Calcium channelopathies and intellectual disability: a systematic review

Kessi, M., Chen, B., Peng, J., Yan, F., Yang, L., & Yin, F. (2021) · Figshare · doi:10.6084/m9.figshare.14594115

Additional file 7 of Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes

Lin, L., Zhang, Y., Pan, H., Wang, J., Qi, Y., & Ma, Y. (2020) · Figshare · doi:10.6084/m9.figshare.13226374

Additional file 2 of Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing

Wu, R., Li, X., Meng, Z., Li, P., He, Z., & Liang, L. (2024) · Figshare · doi:10.6084/m9.figshare.25857581

Additional file 5 of Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing

Wu, R., Li, X., Meng, Z., Li, P., He, Z., & Liang, L. (2024) · Figshare · doi:10.6084/m9.figshare.26722707

Additional file 2 of 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. (2024) · Figshare · doi:10.6084/m9.figshare.26605705

Additional file 1 of Calcium channelopathies and intellectual disability: a systematic review

Kessi, M., Chen, B., Peng, J., Yan, F., Yang, L., & Yin, F. (2021) · Figshare · doi:10.6084/m9.figshare.14594112

Additional file 7 of Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing

Wu, R., Li, X., Meng, Z., Li, P., He, Z., & Liang, L. (2024) · Figshare · doi:10.6084/m9.figshare.26722713

Additional file 3 of Calcium channelopathies and intellectual disability: a systematic review

Kessi, M., Chen, B., Peng, J., Yan, F., Yang, L., & Yin, F. (2021) · Figshare · doi:10.6084/m9.figshare.14594118

Additional file 6 of Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing

Wu, R., Li, X., Meng, Z., Li, P., He, Z., & Liang, L. (2024) · Figshare · doi:10.6084/m9.figshare.26722710

Additional file 1 of Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes

Lin, L., Zhang, Y., Pan, H., Wang, J., Qi, Y., & Ma, Y. (2020) · Figshare · doi:10.6084/m9.figshare.13226356

Additional file 2 of 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., Verbruggen, S. C. A. T., Vanhorebeek, I., & Van den Berghe, G. (2021) · Figshare · doi:10.6084/m9.figshare.15064578

Additional file 4 of Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing

Wu, R., Li, X., Meng, Z., Li, P., He, Z., & Liang, L. (2024) · Figshare · doi:10.6084/m9.figshare.26722704

Imprinting disorders: Intellectual development and social influences

Škrlec, I., & Biloglav, Z. (2025) · Elsevier eBooks · doi:10.1016/b978-0-443-26629-4.00187-8

Evolution of DEE-SWAS into Photosensitive Epilepsy in a Patient with a Mutation in the ASH1L Gene

Khachatryan, R. G. (2026) · Neuroscience and Behavioral Physiology · doi:10.1007/s11055-026-01995-0

Behavioral and synaptic consequences following removal of the Il1rapl1 gene in mice, a model of intellectual disability

Houbaert, X. (2014) · theses.fr (ABES) · doi:10.70675/e01f6a8dze8a0z4d04z90e1z3d1812752374

Editorial: Genetics and mechanisms of neurodevelopmental disorders

Munshi, A., Kumar, A., & Banerjee, S. (2026) · Frontiers in Human Neuroscience · doi:10.3389/fnhum.2026.1829859

Récepteurs synaptiques et troubles du neuro-développement : approches translationnelles pour la caractérisation fonctionnelle des gènes PTCHD1 et GRID1

Ung, D. C. (2017) · theses.fr (ABES) · doi:10.70675/0fbe0ee7z6a7bz45d0z891cz2187edd30d6c

Déficience intellectuelle : identification de nouveaux gènes par une approche multicentrique

Piard, J. (2018) · theses.fr (ABES) · doi:10.70675/4983b815za289z44b8z908dz7ed0ab3f8736

Circuit mechanisms for encoding discriminative learning in the dorsal prefrontal cortex of behaving mice

Aime, M. (2017) · theses.fr (ABES) · doi:10.70675/427e8673zaaa5z44a3zae94z887c40c0f694

Etude de la neurogenèse hippocampique adulte et des fonctions cognitives chez trois souris modèles de déficience intellectuelle

Castillon, C. (2018) · theses.fr (ABES) · doi:10.70675/3cf539d4z8f28z44d5zb94dzf27b0404597b

Etude des variants rares et des régions d'homozygotie par SNP array dans les pathologies neurodéveloppementales

Lévy, J. (2018) · theses.fr (ABES) · doi:10.70675/7a0f08e1z88c4z4b8cza91dz30eb165023a9

Approche neuropsychologique des patients souffrant de Troubles Complexes du Développement (TCD) à l’âge adulte

Danset-Alexandre, C. (2019) · theses.fr (ABES) · doi:10.70675/520525c0z63aaz4b1ez930cz9bda2d886a0f

Exploration pangénomique des anomalies du développement de causes rares

Nambot, S. (2019) · theses.fr (ABES) · doi:10.70675/5f188303zeb9ez4c32zafe6zd815b860d1f2

Génétique et physiopathologie du syndrome de Lowe, analyse des aspects neurologiques

Héritier, A. (2019) · theses.fr (ABES) · doi:10.70675/de6a261fz5927z43bdza3cez77bae3ad1666

Identification de nouveaux gènes de déficience intellectuelle par neurogénomique fonctionnelle

Cordovado, A. (2021) · theses.fr (ABES) · doi:10.70675/d9221fa2z3fd3z44e1zb7f9z299980ab44ff

Etude du développement cortical à travers la caractérisation d'un modèle murin d'autisme et l'inférence des interactions cellulaires par séquençage en cellules uniques

Mathieu, R. (2022) · theses.fr (ABES) · doi:10.70675/252edc66z623ez48e8zad07z2fe84bfc77fe

The role of transcription factor Neurod2 in cortex development and its implications in neurodevelopmental disorders

Runge, K. (2022) · theses.fr (ABES) · doi:10.70675/ee33efc3z7a21z464fz8b6ez9c0be8b501d6

Étude multi-échelle de modèles murins de déficience intellectuelle associée à PAK3

Dobrigna, M. (2024) · theses.fr (ABES) · doi:10.70675/54303e6cz76f9z4529zb556zfc6f07309f89

SORBS2 : A Molecular Nexus in Multisystem Diseases Through Scaffold‐Mediated Regulation

Jia, Q., & Zhang, Y. (2026) · Journal of Cellular and Molecular Medicine · doi:10.1111/jcmm.71160

Intelligence

Kanai, C., Toth, G., & Doi, H. (2026) · Autism and child psychopathology series · doi:10.1007/978-3-032-11802-8_9

Methodological frameworks to probe histone acetylation–driven circuit plasticity in SYNGAP1–associated neurodevelopmental disorders

Singh, A. K., Mishra, P., Rai, A., Pandey, P., Clement, J. P., & Kundu, T. K. (2026) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/bs.mie.2026.05.055

Expanding the phenotypic Spectrum of ZNF711: Autism and epilepsy in two siblings

Urciuoli, G., Simeone, N., Rubino, M., Madia, F., Bilo, L., Comegna, M., Vita, G. D., & Coppola, A. (2026) · Epilepsy & Behavior Reports · doi:10.1016/j.ebr.2026.100878

Craniofacial features and pathogenic variants in 1,252 children with neurodevelopmental disorders

Chen, R., Wu, D.-D., Zhang, J., Dai, Y.-Y., Xia, D.-Q., Chen, M.-Y., Li, X.-N., Liu, Q.-Q., Chen, Y.-H., & Li, R. (2026) · BMC Pediatrics · doi:10.1186/s12887-026-07267-7

The Role of the Immunoglobulin Superfamily of Cell Adhesion Molecules in Intellectual Disability

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Altered developmental trajectories in neurodevelopmental disorders: mechanisms, human models and translational perspectives

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Clinical, genetic and functional characterization of intellectual disability disorders

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Exome Sequencing in X Linked Intellectual Disability : A novel mutation in the CUL4B gene underlying Cabezas syndrome

Philips, A. K. (2012) · Tampere University Institutional Repository (Tampere University)

Epigenetics in Intellectual Disability

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

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Gene networks associated with non-syndromic intellectual disability

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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

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