Cited by 333Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchGenetic Neurodegenerative Diseases

The DOI matches its Crossref record; 109 of the 109 references it cites were found in a registry or an index.

Genomics, Intellectual Disability, and Autism

Open access

Mefford, Heather C., Batshaw, Mark L., Hoffman, Eric P.·2012·New England Journal of Medicine

DOI 10.1056/nejmra1114194PMC PMC4107681

Open this paper in CoChat — free account Open PDF

Abstract

Triplet (trinucleotide) repeat: Sequences of three nucleotides that are repeated in tandem on the same chromosome a number of times.A normal, polymorphic variation in repeat number with no clinical significance commonly occurs between persons; however, repeat numbers over a certain threshold can, in some cases, lead to adverse effects on the function of the gene, resulting in genetic disease.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.1056/nejmra1114194

Cites

109 of 109 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

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

Show all 109 references

Research works printed but not linked: 2

Lejeune J, 1959, CR Hebd Seances Acad Sci, 248, 1721
Perez Jurado LA, 1996, Am J Hum Genet, 59, 781

Sorted by citations

Items 201–300 of 333

Examining potential predictors of attention training outcomes in children with intellectual and developmental disorders
Kirk, H., Raber, A., Richmond, S., & Cornish, K. M. (2020) · Journal of Intellectual & Developmental Disability · doi:10.3109/13668250.2020.1821939 · Cited by 7
A Tiered Genetic Screening Strategy for the Molecular Diagnosis of Intellectual Disability in Chinese Patients
Dai, L., Zhang, D., Wu, Z., Guan, X., Ma, M., Li, L., Zhang, Y., Bai, Y., & Guo, H. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.669217 · Cited by 6
Endogenous neural stem cells characterization using omics approaches: Current knowledge in health and disease
Murtaj, V., Butti, E., Martino, G., & Panina‐Bordignon, P. (2023) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2023.1125785 · Cited by 8
Social disadvantage and developmental diagnosis in pre‐schoolers
Kayrouz, N., Milne, S. L., & McDonald, J. L. (2017) · Journal of Paediatrics and Child Health · doi:10.1111/jpc.13505 · Cited by 6
The role of SCAMP5 in central nervous system diseases
Chen, Y., Fan, J., Xiao, D., & Li, X. (2022) · Neurological Research · doi:10.1080/01616412.2022.2107754 · Cited by 5
Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5
Sun, L., Yang, X., Khan, A. U., Yu, X. Q., Zhang, H., Han, S., Habulieti, X., Sun, Y., Wang, R., & Zhang, X. (2023) · Frontiers of Medicine · doi:10.1007/s11684-023-1006-x · Cited by 5
Convergent depression of activity-dependent bulk endocytosis in rodent models of autism spectrum disorder
Bonnycastle, K., Nawaz, M. S., Kind, P. C., & Cousin, M. A. (2025) · Molecular Autism · doi:10.1186/s13229-025-00660-6 · Cited by 6
Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns
Silver, H., Greenberg, R., Siper, P. M., Zweifach, J., Soufer, R., Şahin, M., Berry‐Kravis, E., Soorya, L. V., Thurm, A., Bernstein, J. A., et al. (2025) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-025-09600-0 · Cited by 4
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
Vision, concretism, repetitism. Typical artistic design features in drawings of adults with autism and intellectual disability
Bergmann, T. J., Camatta, R., Birkner, J., & Sappok, T. (2020) · The Arts in Psychotherapy · doi:10.1016/j.aip.2020.101723 · Cited by 5
Reciprocal regulation of spontaneous synaptic vesicle fusion by Fragile X mental retardation protein and group I metabotropic glutamate receptors
Subrahmanyam, R., Dwivedi, D., Rashid, Z., Bonnycastle, K., Cousin, M. A., & Chattarji, S. (2021) · Journal of Neurochemistry · doi:10.1111/jnc.15484 · Cited by 5
Parental substance use disorder and risk of intellectual disability in offspring in Sweden: a national register study
Khemiri, L., Kuja‐Halkola, R., Larsson, H., Butwicka, A., Tideman, M., D'Onofrio, B. M., Latvala, A., & Lichtenstein, P. (2023) · EClinicalMedicine · doi:10.1016/j.eclinm.2023.102170 · Cited by 6
Repères diagnostiques de la psychose infantile à l’âge de latence
de Becker, E. (2014) · Annales Médico-psychologiques revue psychiatrique · doi:10.1016/j.amp.2014.03.006 · Cited by 5
Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family
Carlström, E. L., Halvardson, J., Etemadikhah, M., Wetterberg, L., Gustavson, K., & Feuk, L. (2019) · BMC Medical Genomics · doi:10.1186/s12920-019-0606-4 · Cited by 5
Vitamin D deficiency and autism; a review on recent findings
Sotodehasl, N., Tamadon, M. R., & Malek, F. (2017) · Journal of Parathyroid Disease · doi:10.15171/jpd.2018.04 · Cited by 5
Editorial: Developmental delay and intellectual disability
Banerjee, S., Munshi, A., Li, C., & Ayub, M. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.934815 · Cited by 5
Mengembangkan Bahasa Ekspresif Anak Down Syndrome dengan Pelatihan Dramatherapy
Thalia, S., Arviana, B. N., Andrea, R., & Wardani, R. (2022) · Jurnal Atma Inovasia · doi:10.24002/jai.v2i6.6477 · Cited by 4
Genetic Etiology of Autism
Cristina, A., Lúiza, A., & Pereira-Nascimento, P. (2013) · InTech eBooks · doi:10.5772/53106 · Cited by 5
74th Congress of the Italian Society of Pediatrics
(2018) · The Italian Journal of Pediatrics/Italian journal of pediatrics · doi:10.1186/s13052-018-0581-y · Cited by 4
Expanding the Phenotypic and Genotypic Spectrum of ARFGEF1-Related Neurodevelopmental Disorder
Lu, C., Zhou, Y., Ren, X.-Y., Xu, C., Ren, R., Yan, X., Li, X., Yang, H., Xu, X., Guo, X., et al. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.862096 · Cited by 4
A novel heterozygous truncating variant in the AGO1 gene in an Iranian family with schizophrenia as an unreported symptom
Mir, A., Khorram, E., Song, Y., Lee, H., & Tabatabaiefar, M. A. (2023) · Annals of Human Genetics · doi:10.1111/ahg.12524 · Cited by 4
Mothers of Children with Autism have Different Rates of Cancer According to the Presence of Intellectual Disability in Their Child
Fairthorne, J. C., de Klerk, N. H., Leonard, H., & Whitehouse, A. (2016) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-016-2847-9 · Cited by 4
Importance of pedigree in patients with familial epilepsy and intellectual disability
Çaksen, H., Aktar, F., Yıldırım, G., & Ceylaner, S. (2019) · Sudanese Journal of Paediatrics · doi:10.24911/sjp.106-1536222362 · Cited by 4
Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism
Zahra, Q., Çakmak, Ç., Koprulu, M., Shuaib, M., Sobreira, N. L. D. M., Kalsner, L., Sobreira, J., Sacoto, M. J. G., Malik, S., & Tolun, A. (2020) · Journal of Human Genetics · doi:10.1038/s10038-020-0812-0 · Cited by 4
Clinical Neurogenetics
Coorg, R. K., Weisenberg, J. L. Z., & Wong, M. L. (2013) · Neurologic Clinics · doi:10.1016/j.ncl.2013.04.003 · Cited by 4
Evaluation of copy number burden in specific epilepsy types from a genome-wide study of 18,564 subjectsPreprint
Niestroj, L., Howrigan, D. P., Pérez‐Palma, E., Saarentaus, E., Nürnberg, P., Stevelink, R., Daly, M. J., Palotie, A. V., Lal, D., & Collaborative, E. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/651299 · Cited by 4
Weight status of children and adolescents with autism spectrum disorder: A cross‐sectional analysis of primary care electronic medical records and linked health administrative datasets in Ontario, Canada
Kinlin, L. M., Saunders, N. R., Carsley, S., Keown‐Stoneman, C. D. G., Tu, K., Zwaigenbaum, L., & Birken, C. S. (2025) · Pediatric Obesity · doi:10.1111/ijpo.70000 · Cited by 3
CHAMP1-Related Disorder: Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature
Raad, S. A., Karam, V. Y., Chouery, É., Mehawej, C., & Mégarbané, A. (2023) · Genes · doi:10.3390/genes14081546 · Cited by 4
Intellectual disabilitiy in developmental age
Giuffrè, M., Moceri, G., Vecchio, D., Antona, V., Salzano, E., & Corsello, G. (2015) · The Italian Journal of Pediatrics/Italian journal of pediatrics · doi:10.1186/1824-7288-41-s2-a38 · Cited by 3
Genetic Evaluation of Children with Global Developmental Delay—Current Status of Network Systems in Taiwan
Foo, Y.-L., Chow, J. C., Lai, M., Tsai, W., Tung, L.-C., Kuo, M., & Lin, S. (2014) · Pediatrics & Neonatology · doi:10.1016/j.pedneo.2014.08.001 · Cited by 3
MLPA analysis in a cohort of patients with autism
Peixoto, S., Melo, J. B., Ferrão, J., Pires, L. M., Lavoura, N., Pinto, M., Oliveira, G., & Carreira, I. M. (2017) · Molecular Cytogenetics · doi:10.1186/s13039-017-0302-z · Cited by 3
Autism Spectrum Disorders
Muncie, H. L., Russo, E., & Mohr, D. C. (2016) · Springer eBooks · doi:10.1007/978-3-319-04414-9_37 · Cited by 3
Diagnostic Evaluation in Children With Developmental Delay
Desale, M., Worden, L. T., Cohen, J. S., Floet, A. M. W., & Hoon, A. H. (2012) · Clinical Pediatrics · doi:10.1177/0009922812460916 · Cited by 3
Identifying Microdeletion Syndromes in Patients with Intellectual Disability Using Molecular Genetic Testing: An Example for the Brazilian Public Health Care System
Sabbag, A. R. C., Rocha, B. G., de Avó, L. R. D. S., Germano, C. M. R., Matheucci, E., & Melo, D. G. (2013) · American journal of public health research · doi:10.12691/ajphr-1-4-2 · Cited by 3
Cognitive Deficits and Behavioral Disorders in Children: A Comprehensive Multidisciplinary Approach to Management
Suresh, P., Ayyappan, A., Nandini, J., & Ismail, T. (2015) · Annals of Behavioural Science · doi:10.21767/2471-7975.100006 · Cited by 3
Multidisciplinary Assessment
Charlot, L. (2016) · Springer eBooks · doi:10.1007/978-3-319-18096-0_132 · Cited by 3
Genetic Counseling: Preconception, Prenatal, and Perinatal
Milunsky, A., & Milunsky, J. M. (2015) · Wiley eBooks · doi:10.1002/9781118981559.ch1 · Cited by 3
Functional magnetic resonance imaging (fMRI) in typical and atypical brain development: Challenges and suggestions
Tajik‐Parvinchi, D., Black, K. R., Roudbarani, F., Weiss, J. A., & King, G. (2022) · Elsevier eBooks · doi:10.1016/b978-0-12-818872-9.00110-2 · Cited by 3
Whole Exome Sequencing Reveals Two Novel Homozygous Variants in the TRAPPC9 and PLOD3 Genes Leading to Intellectual Disability and Bone Fragility with Contractures
Abdulkareem, A. A., Shirah, B. H., Muthaffar, O. Y., & Naseer, M. I. (2023) · Journal of Disability Research · doi:10.57197/jdr-2023-0033 · Cited by 2
Medical Evaluation of Children with Intellectual Disability: Clinician Compliance with Published Guidelines
Tchaconas, A., & ADESMAN, A. R. (2015) · Journal of Intellectual Disability - Diagnosis and Treatment · doi:10.6000/2292-2598.2015.03.02.9 · Cited by 2
Brain Stimulation to Understand and Modulate the Autism Spectrum
Oberman, L. M., Pascual‐Leone, Á., & Rotenberg, A. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-802001-2.00013-8 · Cited by 2
Examining sedentary behaviours of adults with intellectual disabilities: A qualitative analysis
Safi, S., Wong, G., Thirsk, L. M., & Vallance, J. K. (2024) · Journal of Intellectual Disabilities · doi:10.1177/17446295241245784 · Cited by 2
Health disparities between autistic non-citizen adults and US citizens enrolled in Medicaid: An analysis of Medicaid claims data from 2017-2019
Song, W., Tao, S., Grest, C. V., McLean, K. J., Mookerjee, V., & Shea, L. (2025) · Disability and health journal · doi:10.1016/j.dhjo.2025.101825 · Cited by 2
Down syndrome: a model for chromosome abnormalities
Overk, C., & Mobley, W. C. (2022) · Elsevier eBooks · doi:10.1016/b978-0-323-85654-6.00007-1 · Cited by 4
A guide to intellectual disability psychiatry assessments in the community
Eng, B., Addison, P., & RING, H. A. (2013) · Advances in Psychiatric Treatment · doi:10.1192/apt.bp.113.011213 · Cited by 2
Classification issues in the developmental disorders: the case of autism and schizophrenia
Rapin, I., & Snodgrass, S. R. (2012) · Neuropsychiatry · doi:10.2217/npy.12.46 · Cited by 2
Cardiovascular Anomalies among 1005 Fetuses Referred to Invasive Prenatal Testing—A Comprehensive Cohort Study of Associated Chromosomal Aberrations
Wójtowicz, A., Madetko‐Talowska, A., Wójtowicz, W., Szewczyk, K., Huras, H. K., & Bik-Multanowski, M. (2022) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph191610019 · Cited by 2
Role of Glia Cells in Autism Spectrum Disorders
ELÇİ, M. E., Usta, M. B., & Karabekiroğlu, K. (2023) · Psikiyatride Guncel Yaklasimlar - Current Approaches in Psychiatry · doi:10.18863/pgy.1189139 · Cited by 3
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
Prenatal Chromosomal Microarray for the Catholic Physician
Bringman, J. J. (2014) · The Linacre Quarterly · doi:10.1179/2050854914y.0000000019 · Cited by 1
How to assist parents of children with autism spectrum disorders in rural area?
Ding, B. (2015) · Journal of Neurosciences in Rural Practice · doi:10.4103/0976-3147.169776 · Cited by 1
Behavioral Phenotypes and Genetic Syndromes
Paschos, D., Bass, N. J., & Strydom, A. (2013) · Autism and child psychopathology series · doi:10.1007/978-1-4614-8250-5_8 · Cited by 1
Síndrome de duplicación 7q11.23. Primer caso descrito en América Latina
Botero, F. R., Saldarriaga, W., & de Lourido, C. I. (2015) · Archivos Argentinos de Pediatria · doi:10.5546/aap.2016.e1 · Cited by 2
The role of chromatin modifiers in common neurodevelopmental disorders
Poot, R. A. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-814085-7.00012-x · Cited by 1
Perinatal period affecting neuropsychic state of children in Arctic zone
Соловьевская, Н. Л., Belisheva, N. K., & Pryanichnikov, S. V. (2023) · Obstetrics Gynecology and Reproduction · doi:10.17749/2313-7347/ob.gyn.rep.2023.365 · Cited by 1
Characterizing the clinical and sociodemographic profiles of hospitalized adolescents with autism spectrum disorder
Avrahami, M., Ben-Dor, D. H., Ratzon, R., Weizman, A., & Danieli, P. P. (2024) · Cambridge Prisms Global Mental Health · doi:10.1017/gmh.2024.63 · Cited by 1
Reasoning about self and others: A dynamic process
Geveke, C. H., Veenker, H., & Steenbeek, H. (2024) · Autism & Developmental Language Impairments · doi:10.1177/23969415241268192 · Cited by 1
Autism spectrum disorder and 3p24.3p23 triplication: a case report
Siracusano, M., Stellato, M., Carloni, E., Miccolo, G., Riccioni, A., Moavero, R., Voci, A., Valeriani, M., Galasso, C., Pompili, A., et al. (2025) · Journal of Medical Case Reports · doi:10.1186/s13256-025-05124-2 · Cited by 1
Diagnostic approach for genetic causes of intellectual disability
Yim, S.-Y. (2015) · Journal of genetic medicine · doi:10.5734/jgm.2015.12.1.6 · Cited by 1
Diagnosing intellectual disability: detecting big concerns with small instruments
Murphy, T. L. (2018) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.14021 · Cited by 1
An Evaluation of a Developmental Individualized Relationship (DIR®) and Creative Arts Therapies Program for Children with Autism
Thayer, F. (2016) · Cited by 1
Autism Spectrum Disorders Versus Genetic Syndromes
Capal, J. K., & Jeste, S. (2022) · Oxford University Press eBooks · doi:10.1093/med-psych/9780197516881.003.0010 · Cited by 1
Correlation and predictors of self-help skills and teaching barriers in children with intellectual disability and autism spectrum disorders
Arsić, B., Gajić, A., & Vidojković, S. (2022) · Research in Pedagogy · doi:10.5937/istrped2202310a · Cited by 1
Genetic Counseling: Preconception, Prenatal, and Perinatal
Milunsky, A., & Milunsky, J. M. (2021) · Wiley eBooks · doi:10.1002/9781119676980.ch1 · Cited by 1
Concevoir des formations utilisant la vidéo pour faire évoluer les croyances des professionnels sur les capacités des personnes autistes
Willay, E. (2020) · theses.fr (ABES) · doi:10.70675/10ad5b6bz6a7dz49c0za4b7zf43490be4179 · Cited by 1
Molecular Diagnosis and Genetic Testing
Hoffman, E. P., Hache, L. P., & McGee, R. B. (2013) · Springer eBooks · doi:10.1007/978-1-4614-6567-6_14
Self-citation
NGS Improves the Diagnosis of X-Linked Intellectual Disability (XLID)
Friez, M. J., & Basehore, M. J. (2013) · Springer eBooks · doi:10.1007/978-1-4614-7001-4_9
Clinical utility of next-generation sequencing in neurodevelopmental disorders: non-syndromic intellectual disability as a model
Çağlayan, A. O. (2015) · Istanbul Bilim University Florence Nightingale Journal of Medicine · doi:10.5606/fng.btd.2015.011
Cognition and Hippocampal Plasticity in the Mouse Is Altered by Monosomy of a
Sahún, I., Maréchal, D., Pereira, P. L., Nalesso, V., García, J. M. D., Antonarakis, S. E., & Dierssen, M. (2014)
Autism and Increased Paternal Age
Alter, M. D., & Nesbitt, A. M. I. (2013) · Springer eBooks · doi:10.1007/978-1-4614-4788-7_86
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
Omics and EBM: Towards the Art of Individualization or the Standardization of Science - Which Way is this Train Headed?
Stefans, V. (2012) · Pediatrics & Therapeutics · doi:10.4172/2161-0665.1000e110
Parental Perception of Music The rapy for Children Diagnosed with Autism Spectrum Disorders
Mehler, J. E. (2013)
The Path to Personalized Cardiovascular Medicine
Marı́n-Garcı́a, J. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-404599-6.00024-x
Methodologies in the Era of Cardiovascular “Omics”
Marı́n-Garcı́a, J. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-404599-6.00002-0 · Cited by 1
СОВРЕМЕННЫЕ ПРЕДСТАВЛЕНИЯ О МОЛЕКУЛЯРНОЙ ГЕНЕТИКЕ И ГЕНОМИКЕ АУТИЗМА
Vorsanova, S. G., Yurov, Y. B., Silvanovich, A. P., Ia, D., & Yurov, Y. B. (2013)
A guide to intellectual disability psychiatry assessments in the
Addison, P., & RING, H. A. (2013)
Testing the Model: A Phase 1/11 Randomized Double Blind Placebo Control Trial of Targeted Therapeutics: Liposomal Glutathione and Curcumin
Deth, R. C. (2016)
Characteristics of cellular and synaptic function in rodent forebrain neurons with altered SynGAP expression
Mizen, L. A. M. (2018) · ERA
The process of rehabilitation for 0-6 year old children with cerebral palsy at Kenyatta National Hospital, Kenya
Ngota, D. O. (2018) · University of the Western Cape Electronic Theses and Dissertations Repository (University of the Western Cape)
Levels of some heavy metals in autistic patients in Nasiriya City, Southern Iraq.
(2019) · University of Thi-Qar Journal · doi:10.32792/utq/utj/vol13/4/6
Chromosomal Microarray in the New High-Throughput Technological and Bioinformatic Era
Mathew, S. (2019) · Springer eBooks · doi:10.1007/978-3-030-18375-2_5
Gene-Focused Networks Underlying Phenotypic Convergence in a Systematically Phenotyped Cohort With Heterogeneous Intellectual Disability
Wang, Y., Zhu, L., Ma, X., Yang, F., Xu, X., Yang, Y., Yang, X. F., Peng, W., Zhang, W., Liang, J.-Y., et al. (2020) · Frontiers in Bioengineering and Biotechnology · doi:10.3389/fbioe.2020.00045
SUBMICROSCOPIC CHROMOSOMAL VARIATIONS IN CHILDREN WITH IDIOPATHIC INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
John, N. S., Sharma, P., & Moka, R. (2020) · Asian Journal of Pharmaceutical and Clinical Research · doi:10.22159/ajpcr.2020.v13i2.36405
Aetiology of intellectual disability and its clinical features
Rapoport, J. L., Zhou, D., & Ahn, K. (2020) · doi:10.1093/med/9780198713005.003.0023
Profil Pohon Keluarga (Pedigree) Siswa Dengan Intellectual Disability (Id) Dan Multiple Congenital Anomaly (MCA) Di SLB Negeri Kendal
Wahyuningsih, H., Destiana, A. L., & Vikawati, N. E. (2020) · BIOTROPIC The Journal of Tropical Biology · doi:10.29080/biotropic.2020.4.1.15-21
A Large-scale Karyotype Analysis of Genetic Counselors and Fetuses Among Hakka Population in Southern ChinaPreprint
Zhong, H., Huang, Q., Yu, Z., & Wu, H. (2021) · Research Square · doi:10.21203/rs.3.rs-148251/v1
Fundamentos y aplicaciones biomédicas de las principales tecnologías de secuenciación: una revisión de literatura
Camargo, A., González, K. N. V., Rodríguez, A. M. G., Mancipe, D. F. C., Suárez, C. F., & Cuy-Chaparro, L. (2020) · Revista Investigación en Salud Universidad de Boyacá · doi:10.24267/23897325.498
Copy Number Variation in the Human Genome
Ferreira, E. N., & Quaio, C. R. D. C. (2021) · Springer eBooks · doi:10.1007/978-3-030-73151-9_9
Comparação da heterogeneidade clínica entre portadores de desequilíbrios genômicos em 22q11.2 com base no motivo de encaminhamento para análise por microarray cromossômico
Camilotti, D. (2021) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/d.41.2021.tde-12072021-154318
Approach to the Child With Dysmorphism
Lin, H. J., & Vera, M. (2021) · American Academy of PediatricsItasca, IL eBooks · doi:10.1542/9781610023733-84
Caracterização de uma amostra de indivíduos com deficiência intelectual de origem indeterminada
de Carvalho, C. R. L. (2017) · doi:10.47749/t/unicamp.2017.1062812
References
(2021) · Elsevier eBooks · doi:10.1016/b978-0-12-821635-4.00271-x
Diagnosis and Epidemiology of Pediatric Psychiatric Disorders
Robinson, E., Neale, B. M., & Daly, M. J. (2017) · Oxford University Press eBooks · doi:10.1093/med/9780190681425.003.0058
Autism Spectrum Disorders
Muncie, H. L., Russo, E., & Mohr, D. C. (2014) · Springer eBooks · doi:10.1007/978-1-4939-0779-3_37-1
Identification of a Novel Mutation in CTCF in a Family with MRD21Preprint
Qiao, Y., Chen, B., Han, Y., Wang, Y., Zhang, J., Su, Y., Cheng, Y., Wang, T., Ding, J., Ye, S., et al. (2022) · Research Square · doi:10.21203/rs.3.rs-2091600/v1
A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay
Maharjan, D. T., Song, W., Liu, Z., Wang, W., Cai, W., Chen, J., Xu, F., Ying, W., & Lin, G. N. (2022) · Biomolecules · doi:10.3390/biom12111643
Monosomy 18p and trisomy 17q in a boy with unilateral absence of the right pulmonary artery
Calzada-Dávila, M. (2022) · Journal of Clinical Images and Medical Case Reports · doi:10.52768/2766-7820/1871
Evaluasi Penyebab Cacat Lahir Berdasarkan Jenis Kelamin di Sumatra Selatan, Indonesia
Michael, M., Ramatillah, D. L., Dinli, D. Y., Kezia, V., & Sutardi, A. Q. I. (2022) · JFIOnline · doi:10.35617/jfionline.v14i2.58
Pathogenic Variant in the TAF6 Gene in a Bulgarian Patient with the Ultrarare Alazami-Yuan Syndrome
Staykova, S. Y., Atanasoska, M., Gaydarova, M., Balabanski, L., Bradinova, I., & Vazharova, R. (2023) · Journal of Pediatric Neurology · doi:10.1055/s-0043-1772575

Authors: Mefford, H. C., Batshaw, M. L., & Hoffman, E. P.
Affiliations: University of Washington (US)
Children's National (US)
ORCID: Mefford, Heather C.
Hoffman, Eric P.
Venue: New England Journal of Medicine
Publisher: Massachusetts Medical Society
Published: 2012-02-23
Volume: 366
Issue: 8
Pages: 733-743
ISSN: 0028-4793 (ISSN-L)
1533-4406
DOI: 10.1056/nejmra1114194
PMC: PMC4107681
OpenAlex: W2075364461
Cited by: 329
References: 109
Citations by year: 2026: 4 · 2025: 8 · 2024: 15 · 2023: 15 · 2022: 24 · 2021: 25 · 2020: 28 · 2019: 22 · 2018: 20 · 2017: 22 · 2016: 27 · 2015: 28 · 2014: 27 · 2013: 45 · 2012: 19
FWCI: 4.70
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: New England Journal of Medicine (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Funders: National Institute of Neurological Disorders and Stroke (R01NS029525)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Keywords: trinucleotide repeat expansion, trinucleotide repeats, intellectual disability, autism spectrum disorder, genetic disorders, genomics
MeSH terms: Algorithms, Child, Child Development Disorders, Pervasive, Chromosome Aberrations, Humans, Intellectual Disability, Mutation, Phenotype, Sequence Analysis, DNA, Polymorphism, Single Nucleotide, Genomics, High-Throughput Nucleotide Sequencing

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Genomics, Intellectual Disability, and Autism

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks