Genomics, Intellectual Disability, and Autism

Next-generation DNA sequencing

Shendure, J., & Ji, H. (2008) · Nature Biotechnology · doi:10.1038/nbt1486 · Cited by 4,509

Global variation in copy number in the human genome

Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., Andrews, T. D., Fiegler, H., Shapero, M. H., Carson, A. R., Chen, W., et al. (2006) · Nature · doi:10.1038/nature05329 · Cited by 4,377

Detection of large-scale variation in the human genome

Iafrate, A. J., Feuk, L., Rivera, M. N., Listewnik, M. L., Donahoe, P. K., Qi, Y., Scherer, S. W., & Lee, C. (2004) · Nature Genetics · doi:10.1038/ng1416 · Cited by 2,892

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

Strong association of de novo copy number mutations with autism

Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795

Large-scale copy number polymorphism in the human genome

Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., Månér, S., Massa, H., Walker, M., Chi, M., et al. (2004) · Science · doi:10.1126/science.1098918 · Cited by 2,557

Nucleotide sequence of bacteriophage G4 DNA

Godson, G. N., Barrell, B. G., Staden, R., & Fiddes, J. C. (1978) · Nature · doi:10.1038/276236a0 · Cited by 2,099

Targeted capture and massively parallel sequencing of 12 human exomes

Ng, S. B., Turner, E. H., Robertson, P. D., Flygare, S. D., Bigham, A. W., Lee, C., Shaffer, T., Wong, M., Bhattacharjee, A., Eichler, E. E., et al. (2009) · Nature · doi:10.1038/nature08250 · Cited by 2,030

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

Exome sequencing identifies the cause of a mendelian disorder

Ng, S. B., Buckingham, K. J., Lee, C., Bigham, A. W., Tabor, H. K., Dent, K. M., Huff, C. D., Shannon, P. T., Jabs, E. W., Nickerson, D. A., et al. (2010) · Nature Genetics · doi:10.1038/ng.499 · Cited by 1,957

CRL4 antagonizes SCFFbxo7-mediated turnover of cereblon and BK channel to regulate learning and memory

Song, T., Liang, S., Liu, J., Zhang, T., Yin, Y., Geng, C., Gao, S., Feng, Y., Xu, H., Guo, D., et al. (2018) · PLoS Genetics · doi:10.1371/journal.pgen.1007165 · Cited by 31

Clinical and genetic analysis of ZTTK syndrome caused by SON heterozygous mutation c.394C>T

Yang, Y., Xu, L., Yu, Z., Huang, H., & Yang, L. (2019) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.953 · Cited by 30

Cellular and molecular characterization of multiplex autism in human induced pluripotent stem cell-derived neurons

Lewis, E. M. A., Meganathan, K., Baldridge, D., Gontarz, P. M., Zhang, B., Bonni, A., Constantino, J. N., & Kroll, K. L. (2019) · Molecular Autism · doi:10.1186/s13229-019-0306-0 · Cited by 32

Increasing Exposure to Antibody-Stimulating Proteins and Polysaccharides in Vaccines Is Not Associated with Risk of Autism

Destefano, F. R., Price, C. S., & Weintraub, E. (2014) · Pediatria Polska · doi:10.1016/j.pepo.2014.07.003 · Cited by 31

Genomics and Autism Spectrum Disorder

Johnson, N. L., Giarelli, E., Lewis, C., & Rice, C. E. (2013) · Journal of Nursing Scholarship · doi:10.1111/j.1547-5069.2012.01483.x · Cited by 32

Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy

Iourov, I. Y., Vorsanova, S. G., Korostelev, S. A., Zelenova, M. A., & Yurov, Y. B. (2015) · Molecular Cytogenetics · doi:10.1186/s13039-015-0182-z · Cited by 30

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism

Stephen, J., Maddirevula, S., Nampoothiri, S., Burke, J. D., Herzog, M. R., Shukla, A., Steindl, K., Eskin, A., Patil, S. J., Joset, P., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.11.001 · Cited by 29

Prevalence of intellectual disability in Iran: Toward a new conceptual framework in data collection

Soltani, S., Khosravi, B., & Salehiniya, H. (2015) · Journal of Research in Medical Sciences · doi:10.4103/1735-1995.166234 · Cited by 28

An Amino Acid Deletion in SZT2 in a Family with Non-Syndromic Intellectual Disability

Falcone, M. M., Yariz, K. O., Ross, D. B., Foster, J. M., Menéndez, I., & Tekin, M. (2013) · PLoS ONE · doi:10.1371/journal.pone.0082810 · Cited by 28

Next-Generation Sequencing: The Translational Medicine Approach from “Bench to Bedside to Population”

Beigh, M. (2016) · Medicines · doi:10.3390/medicines3020014 · Cited by 28

A scoping study to explore the cost-effectiveness of next-generation sequencing compared with traditional genetic testing for the diagnosis of learning disabilities in children

Beale, S., Sanderson, D., Sanniti, A., Dundar, Y., & Boland, A. (2015) · Health Technology Assessment · doi:10.3310/hta19460 · Cited by 28

Role of calcium/calmodulin-dependent kinase 2 in neurodevelopmental disorders

Onori, M. P., & van Woerden, G. M. (2021) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2021.03.014 · Cited by 30

Family quality of life among families who have children with mild intellectual disability associated with mild autism spectrum disorder

Borilli, M. C., Germano, C. M. R., de Avó, L. R. D. S., Pilotto, R. F., & Melo, D. G. (2022) · Arquivos de Neuro-Psiquiatria · doi:10.1590/0004-282x-anp-2020-0537 · Cited by 28

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants

Cappuccio, G., Vitiello, F., Casertano, A., Fontana, P., Genesio, R., Bruzzese, D., Ginocchio, V. M., Mormile, A., Nitsch, L., Andria, G., et al. (2016) · The Italian Journal of Pediatrics/Italian journal of pediatrics · doi:10.1186/s13052-016-0246-7 · Cited by 28

An interaction network of mental disorder proteins in neural stem cells

Moen, M. J., Adams, H. H. H., Brandsma, J. H., Dekkers, D. H. W., Akinci, U., Karkampouna, S., Quevedo, M., Kockx, C. E. M., Özgür, Z., van IJcken, W. F. J., et al. (2017) · Translational Psychiatry · doi:10.1038/tp.2017.52 · Cited by 27

FADS1-FADS2 and ELOVL2 gene polymorphisms in susceptibility to autism spectrum disorders in Chinese children

Sun, C., Zou, M., Wang, X., Xia, W. T., Ma, Y., Liang, S., Hao, Y., Wu, L., & Fu, S. (2018) · BMC Psychiatry · doi:10.1186/s12888-018-1868-7 · Cited by 29

De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review

Siano, M., Maggio, I. D., Petillo, R., Cocciadiferro, D., Agolini, E., Majolo, M., Novelli, A., Monica, M. D., & Piscopo, C. (2022) · Pediatric Reports · doi:10.3390/pediatric14010019 · Cited by 26

Maternal Psychiatric Disorder and the Risk of Autism Spectrum Disorder or Intellectual Disability in Subsequent Offspring

Fairthorne, J., Hammond, G., Bourke, J., de Klerk, N. H., & Leonard, H. (2015) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-015-2594-3 · Cited by 26

Atypical face shape and genomic structural variants in epilepsy

Chinthapalli, K., Bartolini, E., Nový, J., Suttie, M., Marini, C., Falchi, M., Fox, Z. V., Clayton, L. M. S., Sander, J. W. A. S., Guerrini, R., et al. (2012) · Brain · doi:10.1093/brain/aws232 · Cited by 26

Is one diagnosis the whole story? patients with double diagnoses

Kurolap, A., Orenstein, N., Kedar, I., Hubshman, M. W., Tiosano, D., Mory, A., Levi, Z., Marom, D., Cohen, L., Ekhilevitch, N., et al. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37799 · Cited by 26

A systematic PRISMA review of individuals with autism spectrum disorder in secure psychiatric care: prevalence, treatment, risk assessment and other clinical considerations

Allely, C. S. (2018) · Journal of Criminal Psychology · doi:10.1108/jcp-06-2017-0028 · Cited by 32

Targeted pharmacological treatment of autism spectrum disorders: fragile X and Rett syndromes

Wang, H., Pati, S. B. B., Pozzo‐Miller, L. D., & Doering, L. C. (2015) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2015.00055 · Cited by 28

Next Generation Sequencing and Genome-Wide Genotyping Identify the Genetic Causes of Intellectual Disability in Ten Consanguineous Families from Jordan

Froukh, T. J. (2017) · The Tohoku Journal of Experimental Medicine · doi:10.1620/tjem.243.297 · Cited by 24

Co-occurring intellectual disability and autism: Associations with stress, coping, time use, and quality of life in caregivers

Vaz, S. M. A., Thomson, A., Cuomo, B., Falkmer, T., Chamberlain, A., & Black, M. H. (2021) · Research in Autism · doi:10.1016/j.rasd.2021.101765 · Cited by 25

The Relationship between Motor Skills and Intelligence in Children with Autism Spectrum Disorder

Ramos-Sánchez, C. P., Kortekaas, D., Biesen, D. V., Vancampfort, D., & Damme, T. V. (2021) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-021-05022-8 · Cited by 28

Gene expression in maturing neurons: regulatory mechanisms and related neurodevelopmental disorders.

Ding, B. (2015) · PubMed · Cited by 24

Imaging genetics in neurodevelopmental psychopathology

Klein, M., van Donkelaar, M. M. J., Verhoef, E., & Franke, B. (2017) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32542 · Cited by 30

Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH

Nicholl, J. K., Waters, W., Mulley, J. C., Suwalski, S., Brown, S., Hull, Y., Barnett, C., Haan, E., Thompson, E. M., Liebelt, J. E., et al. (2013) · Pathology · doi:10.1097/pat.0000000000000043 · Cited by 24

Genomics, Intellectual Disability, and Autism

(2012) · New England Journal of Medicine · doi:10.1056/nejmc1204397 · Cited by 24

Performance of the Autism Spectrum Rating Scale and Social Responsiveness Scale in Identifying Autism Spectrum Disorder Among Cases of Intellectual Disability

Li, C., Zhou, H., Wang, T., Long, S., Du, X., Xu, X., Yan, W., & Wang, Y. (2018) · Neuroscience Bulletin · doi:10.1007/s12264-018-0237-3 · Cited by 23

Autism Spectrum Disorder

Al-Salehi, S. M., & Alhifthy, E. H. (2020) · Springer eBooks · doi:10.1007/978-3-319-43153-6_10 · Cited by 23

CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms

Levy, T., Lerman, B., Halpern, D. B., Frank, Y., Layton, C., Zweifach, J., Siper, P. M., Buxbaum, J. D., & Kolevzon, A. (2022) · Human Molecular Genetics · doi:10.1093/hmg/ddac018 · Cited by 24

Novel Therapeutic Approach for Autism Spectrum Disorder: Focus on SHANK3

Uchino, S., & Waga, C. (2015) · Current Neuropharmacology · doi:10.2174/1570159x13666151029105547 · Cited by 27

Biallelic loss‐of‐function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability

Helbig, K. L., Mroske, C., Moorthy, D., Sajan, S. A., & Velinov, M. T. (2017) · Clinical Genetics · doi:10.1111/cge.12995 · Cited by 24

A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly

Seto, T., Hamazaki, T., Nishigaki, S., Kudo, S., Shintaku, H., Ondo, Y., Shimojima, K. Y., & Yamamoto, T. (2017) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2017.01031 · Cited by 22

Autworks: a cross-disease network biology application for Autism and related disorders

Nelson, T. H., Jung, J.-Y., DeLuca, T. F., Hinebaugh, B. K., Gabriel, K. C. S., & Wall, D. P. (2012) · BMC Medical Genomics · doi:10.1186/1755-8794-5-56 · Cited by 22

16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up

Cai, M., Que, Y., Chen, X., Chen, Y., Liang, B., Huang, H., Xu, L., & Lin, N. (2022) · BMC Pregnancy and Childbirth · doi:10.1186/s12884-022-05267-w · Cited by 22

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

Monogenic and chromosomal causes of isolated speech and language impairment

Barnett, C., & van Bon, B. W. M. (2015) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103161 · Cited by 23

Ethical, Legal, and Social Issues (ELSI) of Responsible Data Sharing Involving Children in Genomics: A Systematic Literature Review of Reasons

Rahimzadeh, V. N., Knoppers, B. M., & Bartlett, G. (2020) · AJOB Empirical Bioethics · doi:10.1080/23294515.2020.1818875 · Cited by 23

Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder

Semino, F., Schröter, J., Willemsen, M. H., Bast, T., Biskup, S., Beck‐Woedl, S., Brennenstuhl, H., Schaaf, C. P., Kölker, S., Hoffmann, G. F., et al. (2021) · Human Mutation · doi:10.1002/humu.24245 · Cited by 21

Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster

Polan, M. B., Pastore, M., Steingass, K. J., Hashimoto, S., Thrush, D. L., Pyatt, R. E., Reshmi, S. C., Gastier, J. M., Astbury, C., & McBride, K. L. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2013.99 · Cited by 21

Cognition and Hippocampal Plasticity in the Mouse Is Altered by Monosomy of a Genomic Region Implicated in Down Syndrome

Sahún, I., Maréchal, D., Pereira, P. L., Nalesso, V., Gruart, A., García, J. M. D., Antonarakis, S. E., Dierssen, M., & Hérault, Y. (2014) · Genetics · doi:10.1534/genetics.114.165241 · Cited by 25

De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures

Hubert, L., Serio, M. C., Villoing-Gaudé, L., Boddaert, N., Kamińska, A., Rio, M., Lyonnet, S., Münnich, A., Poirier, K., Simons, M., et al. (2019) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2018-105927 · Cited by 20

FMRP Sustains Presynaptic Function via Control of Activity-Dependent Bulk Endocytosis

Bonnycastle, K., Kind, P. C., & Cousin, M. A. (2022) · Journal of Neuroscience · doi:10.1523/jneurosci.0852-21.2021 · Cited by 23

Políticas públicas de saúde para deficientes intelectuais no Brasil: uma revisão integrativa

Tomaz, R. V. V., Rosa, T. L., Van, D. B., & Melo, D. G. (2016) · Ciência & Saúde Coletiva · doi:10.1590/1413-81232015211.19402014 · Cited by 21

Evaluation of the Child With Developmental Impairments

van Karnebeek, C. (2018) · CONTINUUM Lifelong Learning in Neurology · doi:10.1212/con.0000000000000564 · Cited by 21

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Kumble, S., Levy, A. M., Punetha, J., Gao, H., Mew, N. A., Anyane‐Yeboa, K., Benke, P. J., Berger, S. M., Bjerglund, L., Campos‐Xavier, B., et al. (2021) · Human Mutation · doi:10.1002/humu.24308 · Cited by 19

Introduction to the Molecular Biology of the Cell

Marín-García, J. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-404599-6.00001-9 · Cited by 20

Neuroinflammation and Neurotransmission Mechanisms Involved in Neuropsychiatric Disorders

Leite, J. A., Orellana, A. M., Kinoshita, P. F., de Mello, N. P., Scavone, C., & Kawamoto, E. M. (2017) · InTech eBooks · doi:10.5772/intechopen.69343 · Cited by 20

Synaptic proteomics as a means to identify the molecular basis of mental illness: Are we getting there?

Reig‐Viader, R., Sindreu, C. B., & Bayés, À. (2017) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2017.09.011 · Cited by 19

Prioritizing the development of mouse models for childhood brain disorders

Ogden, K. K., Ozkan, E. D., & Rumbaugh, G. (2015) · Neuropharmacology · doi:10.1016/j.neuropharm.2015.07.029 · Cited by 20

Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies

Uwineza, A., Caberg, J., Hitayezu, J., Hellin, A., Jamar, M., Dideberg, V., Rusingiza, E. K., Bours, V., & Mutesa, L. (2014) · BMC Medical Genetics · doi:10.1186/1471-2350-15-79 · Cited by 18

APOA5 Q97X Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family

Catalina Dussaillant, K., Serrano, V., Alberto Maiz, G., Eyheramendy, S., Cataldo, L. R., Chavez, M., Smalley, S. V., Fuentes, M., Rigotti, A., Rubio, L., et al. (2012) · BMC Medical Genetics · doi:10.1186/1471-2350-13-106 · Cited by 20

Addressing the problem of ADHD medication as neuroenhancements

Graf, W. D., Miller, G., & Nagel, S. K. (2014) · Expert Review of Neurotherapeutics · doi:10.1586/14737175.2014.908707 · Cited by 19

Towards identification of molecular mechanisms of short stature

Waldman, L., & Chia, D. J. (2013) · International Journal of Pediatric Endocrinology · doi:10.1186/1687-9856-2013-19 · Cited by 18

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) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-020-01599-y · Cited by 20

Association of Copy Number Variations in Autism Spectrum Disorders: A Systematic Review

Şener, E. F. (2014) · Chinese Journal of Biology · doi:10.1155/2014/713109 · Cited by 19

GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders

Burger, P., Colin, F., Strehle, A., Mazzucotelli, T., Collot, N., Coutelle, R., Durand, B., Bouman, A., Prat, D. L., Kleefstra, T., et al. (2022) · Journal of Neural Transmission · doi:10.1007/s00702-022-02569-3 · Cited by 15

“There’s No Separating My View of My Body from My Autism”: A qualitative study of positive body image in autistic individuals

Longhurst, P., Aspell, J. E., Todd, J., & Swami, V. (2023) · Body Image · doi:10.1016/j.bodyim.2023.101655 · Cited by 19

Utility of chromosomal microarray in anomalous fetuses

Parchem, J. G., Sparks, T. N., Gosnell, K. A., & Norton, M. E. (2018) · Prenatal Diagnosis · doi:10.1002/pd.5202 · Cited by 15

Psychosis, schizophrenia, and states vs. traits

Cannon, T. D. (2021) · Schizophrenia Research · doi:10.1016/j.schres.2021.12.001 · Cited by 15

Vulnerability or resilience of motopsin knockout mice to maternal separation stress depending on adulthood behaviors

Hidaka, C., Kashio, T., Uchigaki, D., & Mitsui, S. (2018) · Neuropsychiatric Disease and Treatment · doi:10.2147/ndt.s170281 · Cited by 15

Diagnosis of intellectual disability/global developmental delay via genetic analysis in a central region of China

Liao, L., Chen, C., Peng, J., Wu, L., He, F. P., Yang, L., Zhang, C., Wang, G., Peng, P., Ma, Y., et al. (2019) · Chinese Medical Journal · doi:10.1097/cm9.0000000000000295 · Cited by 16

Engaging Underrepresented Communities in Health Research: Lessons Learned

Yu, Z., Kowalkowski, J. A., Roll, A. E., & Lor, M. (2021) · Western Journal of Nursing Research · doi:10.1177/0193945920987999 · Cited by 14

OUP accepted manuscript

Tochitani, S., Furukawa, T., Bando, R., Kondo, S., Ito, T., Matsushima, Y., Kojima, T., Matsuzaki, H., & Fukuda, A. (2021) · Cerebral Cortex · doi:10.1093/cercor/bhab106 · Cited by 14

Lateral habenula dysfunctions in Tm4sf2−/y mice model for neurodevelopmental disorder

Murru, L., Ponzoni, L., Longatti, A., Mazzoleni, S., Giansante, G., Bassani, S., Sala, M., & Passafaro, M. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.105189 · Cited by 14

Systematic Analysis of Protein–Protein and Gene–Environment Interactions to Decipher the Cognitive Mechanisms of Autism Spectrum Disorder

Farahani, M., Rezaei–Tavirani, M., Zali, A., & Azodi, M. Z. (2020) · Cellular and Molecular Neurobiology · doi:10.1007/s10571-020-00998-w · Cited by 13

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

Integrated gene analyses of de novo mutations from 46,612 trios with autism and developmental disordersPreprint

Wang, T., Kim, C., Bakken, T. E., Gillentine, M. A., Henning, B., Mao, Y., Gilissen, C., Nowakowski, T. J., & Eichler, E. E. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.09.15.460398 · Cited by 13

High-resolution chromosomal microarray analysis for copy-number variations in high-functioning autism reveals large aberration typical for intellectual disability

Werling, A. M., Grünblatt, E., Oneda, B., Bobrowski, E., Gundelfinger, R., Taurines, R., Romanos, M., Rauch, A. M., & Walitza, S. (2019) · Journal of Neural Transmission · doi:10.1007/s00702-019-02114-9 · Cited by 13

Low-frequency copy-number variants and general cognitive ability: No evidence of association

Kirkpatrick, R. M., McGue, M. K., Iacono, W. G., Miller, M. B., Basu, S., & Pankratz, N. (2013) · Intelligence · doi:10.1016/j.intell.2013.11.005 · Cited by 12

Progress in autism and related disorders of brain development

Berg, A. T., & Dobyns, W. B. (2015) · The Lancet Neurology · doi:10.1016/s1474-4422(15)00048-4 · Cited by 12

New strategies and findings for behavioral interventions in autism spectrum disorders

Lord, C., & Jones, R. M. (2013) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.12311 · Cited by 14

Genetic Approach to Diagnosis of Intellectual Disability

Puri, R. D., Tuteja, M., & Verma, I. C. (2016) · The Indian Journal of Pediatrics · doi:10.1007/s12098-016-2205-0 · Cited by 12

Risk of mortality among children, adolescents, and adults with autism spectrum disorder or attention deficit hyperactivity disorder and their first-degree relatives: a protocol for a systematic review and meta-analysis of observational studies.

Catalá-López, F., Hutton, B., Page, M. J., Ridao, M., Driver, J. A., Alonso-Arroyo, A., Forés-Martos, J., Macías Saint-Gerons, D., Vieta, E., Valencia, A., et al. (2017) · Systematic Reviews · doi:10.1186/s13643-017-0581-9 · Cited by 11

Psychometric properties of the Chinese version of the children's empathy quotient and systemizing quotient: 4–12 years

Wang, X., Dai, M., Murray, A. L., Liu, S., Chen, J., Lin, L., Jin, J., & Bonnie Auyeung, B. (2022) · Autism Research · doi:10.1002/aur.2743 · Cited by 10

Neurogenetics in Child Neurology: Redefining a Discipline in the Twenty-first Century

Kaufmann, W. E. (2016) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-016-0703-0 · Cited by 11

Genomic and proteomic advances in autism research

Maurer, M. H. (2012) · Electrophoresis · doi:10.1002/elps.201200382 · Cited by 11

Anesthesia for stem cell transplantation in autistic children: A prospective, randomized, double-blind comparison of propofol and etomidate following sevoflurane inhalation

MA, Y.-H., LI, Y.-W., Ma, L., Cao, C.-H., & LIU, X.-D. (2015) · Experimental and Therapeutic Medicine · doi:10.3892/etm.2015.2176 · Cited by 11

Structural variations of the genome in autistic spectrum disorders with intellectual disability

Iourov, I. Y., Vorsanova, S. G., Korostelev, S. A., Vasin, K. S., Zelenova, M. A., Куринная, О. С., & Yurov, Y. B. (2016) · S S Korsakov Journal of Neurology and Psychiatry · doi:10.17116/jnevro20161167150-54 · Cited by 11

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

Key Informants’ Perspectives of Implementing Chromosomal Microarrays Into Clinical Practice in Australia

Turbitt, E., Halliday, J. L., & Metcalfe, S. A. (2013) · Twin Research and Human Genetics · doi:10.1017/thg.2013.43 · Cited by 10

Introduction to Autism Spectrum Disorders

Bagasra, O., Heggen, C., & Hossain, M. I. (2018) · doi:10.1002/9781119042280.ch1 · Cited by 10

Smell of autism: Synthetic fragrances and cause for allergies, asthma, cancer and autism

Bagasra, O., & Pace, D. (2013) · OA Autism · doi:10.13172/2052-7810-1-2-611 · Cited by 9

Relationship of Nonsteroidal Anti-Inflammatory Drug Use During Pregnancy with Autism Spectrum Disorder and Intellectual Disability Among Offspring

Chowdhury, M. A. K., Hardin, J. W., Love, B. L., Merchant, A. T., & McDermott, S. W. (2022) · Journal of Women s Health · doi:10.1089/jwh.2022.0113 · Cited by 10

Survey of parents of children with intellectual disabilities and/or autism who experience chronic constipation

Rooney, J., Hodge, R., Smith, J., Vanstone, K., Laugharne, R. A., & Shankar, R. (2023) · Journal of Applied Research in Intellectual Disabilities · doi:10.1111/jar.13101 · Cited by 9

ESC models of autism with copy-number variations reveal cell-type-specific translational vulnerability

Nomura, J., Zuko, A., Kishimoto, K., Mutsumine, H., Maegawa, H., Fukatsu, K., Nomura, Y., Liu, X., Nakai, N., Maeda, C., et al. (2025) · Cell Genomics · doi:10.1016/j.xgen.2025.100877 · Cited by 11

Pre-Existing Differences in Mothers of Children with Autism Spectrum Disorder and/or Intellectual Disability: A Review

Fairthorne, J., Langridge, A., Bourke, J., & Leonar, H. (2013) · InTech eBooks · doi:10.5772/54488 · Cited by 9

A Systematic Review and Research Agenda on Mental Wellbeing of the Caregivers of Intellectually Disabled Children

Abdul Hameed, P. V., & Kotian, S. (2022) · International Journal of Management Technology and Social Sciences · doi:10.47992/ijmts.2581.6012.0194 · Cited by 12

Copy number variant syndromes are frequent in schizophrenia: Progressing towards a CNV-schizophrenia model

Sriretnakumar, V., Zai, C. C. H., Wasim, S., Barsanti-Innes, B., Kennedy, J. L., & So, J. (2019) · Schizophrenia Research · doi:10.1016/j.schres.2019.04.026 · Cited by 8

Structure of the FERM domain of a neural scaffold protein FRMPD4 implicated in X-linked intellectual disability

Wang, M., Lin, L., Shi, Y., He, L., Wang, C., & Zhu, J. (2020) · Biochemical Journal · doi:10.1042/bcj20200857 · Cited by 8

Non-Mendelian etiologic factors in neuropsychiatric illness: Pleiotropy, epigenetics, and convergence

Deutsch, C. K., & McIlvane, W. J. (2012) · Behavioral and Brain Sciences · doi:10.1017/s0140525x12001392 · Cited by 7

Chromosome 1p31.1 Deletion Syndrome

Biswal, S., Parida, P., Dubbudu, A., Sharawat, I. K., & Panda, P. K. (2021) · Annals of Indian Academy of Neurology · doi:10.4103/aian.aian_258_20 · Cited by 7

Avances en la identificación etiológica del retraso mental

Rabelino, G. G., Raggio, V. E., Boidi, M., Nicolini, A. T., & Roche-Lowezy, L. (2013) · Revista de Neurología · doi:10.33588/rn.57s01.2013242 · Cited by 7

GenIDA : l’histoire naturelle et les comorbidités des troubles du neurodéveloppement d’origine génétique

Burger, P., Coutelle, R., Strehle, A., Colin, F., Collot, N., Koolen, D. A., Kleefstra, T., & Mandel, J. (2021) · Enfance · doi:10.3917/enf2.213.0229 · Cited by 6

A novel in‐frame deletion in KIF5C gene causes infantile onset epilepsy and psychomotor retardation

Banerjee, S., Zhao, Q., Wang, B., Qin, J., Yuan, X., Lou, Z., Zheng, W., Li, H., Wang, X., Cheng, X., et al. (2024) · MedComm · doi:10.1002/mco2.469 · Cited by 6

Intellectual Disability—Concepts, Aetiology, and Genetics

Girimaji, S. C., Basheer, S., Biswas, A. B., & Gangadharan, S. K. (2020) · doi:10.1093/med/9780198794585.003.0003 · Cited by 6

MACF1, Involved in the 1p34.2p34.3 Microdeletion Syndrome, is Essential in Cortical Progenitor Polarity and Brain Integrity

Ka, M., Moffat, J. J., & Kim, W.-Y. (2021) · Cellular and Molecular Neurobiology · doi:10.1007/s10571-021-01088-1 · Cited by 6

Variantes en el número de copias en trastornos del neurodesarrollo, síndrome malformativo y talla baja en Perú

Abarca-Barriga, H. H., Sotomayor, F. V., Trubnykova, M., Velásquez, F. C., Pastor, M. A. C., Jugo, B. E. G., Poterico, J. A., Bedón, N. C., Serna‐Infantes, J. L., & Vásquez‐Loarte, T. (2020) · ACTA MEDICA PERUANA · doi:10.35663/amp.2020.372.915 · Cited by 6

Are Only Repeated Triplets Guilty?

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Triplet Repeat Disorders

Jarzembowski, J. A. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-386456-7.01506-9

Comprehensive Analysis of Triplet Repeats in Vertebrate Genomes

Okada, S., Yamashita, R., Kinoshita, K., & Nakai, K. (2016)

Triplet Repeat Gene Sequences in Neuropsychiatric Diseases

Li, R., & El‐Mallakh, R. S. (1997) · Harvard Review of Psychiatry · doi:10.3109/10673229709034729 · Cited by 12