The DOI matches its Crossref record; 64 of the 64 references it cites were found in a registry or an index.
Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence
Open accessAbstract
Neurodevelopmental disorders can be caused by many different genetic abnormalities that are individually rare but collectively common. Specific genetic causes, including certain copy number variants and single-gene mutations, are shared among disorders that are thought to be clinically distinct. This evidence of variability in the clinical manifestations of individual genetic variants and sharing of genetic causes among clinically distinct brain disorders is consistent with the concept of developmental brain dysfunction, a term we use to describe the abnormal brain function underlying a group of neurodevelopmental and neuropsychiatric disorders and to encompass a subset of various clinical diagnoses. Although many pathogenic genetic variants are currently thought to be variably penetrant, we hypothesise that when disorders encompassed by developmental brain dysfunction are considered as a group, the penetrance will approach 100%. The penetrance is also predicted to approach 100% when the phenotype being considered is a specific trait, such as intelligence or autistic-like social impairment, and the trait could be assessed using a continuous, quantitative measure to compare probands with non-carrier family members rather than a qualitative, dichotomous trait and comparing probands with the healthy population.
Overview
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
Cites
Statistics
Verification
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?
Pathogenic variants in the same genes are identified in individuals with a variety of different clinically defined brain disorders, including ASD, ID, epilepsy, schizophrenia, and other neurodevelopmental and neuropsychiatric conditions.
“It has also become clear that pathogenic variants in the same genes are identified in individuals with a variety of different clinically defined brain disorders, including ASD, intellectual disability (ID), epilepsy, schizophrenia, and other neurodevelopmental and neuropsychiatric conditions.”
From Insufficient Evidence for “Autism-Specific” Genes (2020) · cites this paper as [4]
Genotype-first studies with comprehensive clinical characterization of cohorts sharing an etiology show high variability in expressivity of recurrent CNVs and single-gene mutations.
“Using a genotype-first approach, studies reporting the comprehensive clinical characterization of cohorts of patients with shared etiology have shown a high degree of variability in the expressivity of recurrent CNVs and mutations in single genes (95).”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [95]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., et al. (2012) · Nature · doi:10.1038/nature10989 · Cited by 2,165
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Sanders, S. J., Murtha, M. T., Gupta, A. R., Murdoch, J. D., Raubeson, M. J., Willsey, A. J., Ercan-Sencicek, A. G., DiLullo, N. M., Parikshak, N. N., Stein, J. L., et al. (2012) · Nature · doi:10.1038/nature10945 · Cited by 2,084
Large recurrent microdeletions associated with schizophrenia.
GROUP, Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., et al. (2008) · Nature · doi:10.1038/nature07229 · Cited by 1,745
Association between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075974 · Cited by 1,666
Constantino, J. N., Davis, S. A., Todd, R. D., Schindler, M. K., Gross, M. M., Brophy, S. L., Metzger, L. M., Shoushtari, C. S., Splinter, R., & Reich, W. (2003) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1025014929212 · Cited by 1,611
Rare chromosomal deletions and duplications increase risk of schizophrenia
The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475
Pediatrics, S. O. D. B. (2006) · PEDIATRICS · doi:10.1542/peds.2006-1231 · Cited by 1,472
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
The Autism Genome Project Consortium (2007) · Nature Genetics · doi:10.1038/ng1985 · Cited by 1,402
A copy number variation morbidity map of developmental delay
Cooper, G. M., Coe, B. P., Girirajan, S., Rosenfeld, J. A., Vu, T. H., Baker, C., Williams, C., Stalker, H., Hamid, R., Hannig, V., et al. (2011) · Nature Genetics · doi:10.1038/ng.909 · Cited by 1,351
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
O'Roak, B. J., Deriziotis, P., Lee, C., Vives, L., Schwartz, J. J., Girirajan, S., Karakoc, E., MacKenzie, A. P., Ng, S. B., Baker, C., et al. (2011) · Nature Genetics · doi:10.1038/ng.835 · Cited by 1,203
The epidemiology of cerebral palsy: Incidence, impairments and risk factors
Odding, E., Roebroeck, M. E., & Stam, H. J. (2006) · Disability and Rehabilitation · doi:10.1080/09638280500158422 · Cited by 1,084
Deep sequencing reveals 50 novel genes for recessive cognitive disorders
Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., et al. (2011) · Nature · doi:10.1038/nature10423 · Cited by 965
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0805384 · Cited by 804
Neurodevelopmental model of schizophrenia: update 2012
Rapoport, J. L., Giedd, J. N., & Gogtay, N. (2012) · Molecular Psychiatry · doi:10.1038/mp.2012.23 · Cited by 790
Gillberg, C. (2010) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2010.06.002 · Cited by 742
Recurrent 16p11.2 microdeletions in autism
Kumar, R. A., KaraMohamed, S., Sudi, J., Conrad, D. F., Brune, C., Badner, J. A., Gilliam, T. C., Nowak, N. J., Cook, E. H., Dobyns, W. B., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm376 · Cited by 731
Manning, M. A., & Hudgins, L. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3181f8baad · Cited by 681
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
Strauss, K. A., Puffenberger, E. G., Huentelman, M. J., Gottlieb, S., Dobrin, S. E., Parod, J. M., Stephan, D. A., & Morton, D. H. (2006) · New England Journal of Medicine · doi:10.1056/nejmoa052773 · Cited by 630
Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome
Bassett, A. S., McDonald-McGinn, D. M., Devriendt, K., Digilio, M. C., Goldenberg, P., Habel, A., Marino, B., Oskarsdottir, S., Philip, N., Sullivan, K., et al. (2011) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2011.02.039 · Cited by 597
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
Sharp, A. J., Mefford, H. C., Li, K., Baker, C., Skinner, C., Stevenson, R. E., Schroer, R. J., Novara, F., De Gregori, M., Ciccone, R., et al. (2008) · Nature Genetics · doi:10.1038/ng.93 · Cited by 582
Shinawi, M., Liu, P., Kang, S.-H. L., Shen, J., Belmont, J. W., Scott, D. A., Probst, F. J., Craigen, W. J., Graham, B. H., Pursley, A., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.073015 · Cited by 580
Relations Among Speech, Language, and Reading Disorders
Pennington, B. F., & Bishop, D. (2008) · Annual Review of Psychology · doi:10.1146/annurev.psych.60.110707.163548 · Cited by 572
Einfeld, S., Ellis, L. A., & Emerson, E. (2011) · Journal of Intellectual & Developmental Disability · doi:10.1080/13668250.2011.572548 · Cited by 509
Endele, S., Rosenberger, G., Geider, K., Popp, B., Tamer, C., Stefanova, I., Milh, M., Kortüm, F., Fritsch, A., Pientka, F. K., et al. (2010) · Nature Genetics · doi:10.1038/ng.677 · Cited by 499
Exome sequencing supports a de novo mutational paradigm for schizophrenia
Xu, B., Roos, J. L., Dexheimer, P. J., Boone, B. E., Plummer, B., Levy, S., Gogos, J. A., & Karayiorgou, M. (2011) · Nature Genetics · doi:10.1038/ng.902 · Cited by 473
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R. G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N. D., et al. (2011) · Nature · doi:10.1038/nature10406 · Cited by 462
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
Dibbens, L. M., Tarpey, P. S., Hynes, K., Bayly, M. A., Scheffer, I. E., Smith, R., Bomar, J. M., Sutton, E., Vandeleur, L., Shoubridge, C., et al. (2008) · Nature Genetics · doi:10.1038/ng.149 · Cited by 453
Evans, D. W., Leckman, J. F., Carter, A. S., Reznick, J. S., Henshaw, D., King, R. A., & Pauls, D. L. (1997) · Child Development · doi:10.1111/j.1467-8624.1997.tb01925.x · Cited by 449
Self-citationKaminsky, E. B., Kaul, V., Paschall, J., Church, D. M., Bunke, B., Kunig, D., Moreno-De-Luca, D., Moreno-De-Luca, A., Mulle, J. G., Warren, S. T., et al. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e31822c79f9 · Cited by 437
Self-citationLinking neurodevelopmental and synaptic theories of mental illness through DISC1
Brandon, N. J., & Sawa, A. (2011) · Nature reviews. Neuroscience · doi:10.1038/nrn3120 · Cited by 431
Motor coordination and kinaesthesis in boys with attention deficit–hyperactivity disorder
Piek, J. P., Pitcher, T. M., & Hay, D. A. (1999) · Developmental Medicine & Child Neurology · doi:10.1017/s0012162299000341 · Cited by 403
Depienne, C., Bouteiller, D., Keren, B., Cheuret, E., Poirier, K., Trouillard, O., Benyahia, B., Quēlin, C., Carpentier, W., Julia, S., et al. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000381 · Cited by 372
Revised Neurological Examination for Subtle Signs (1985).
Mb, D. (1985) · PubMed · Cited by 347
Zweier, C., de Jong, E. K., Zweier, M., Orrico, A., Ousager, L. B., Collins, A. L., Bijlsma, E. K., Oortveld, M. A. W., Ekici, A. B., Reis, A., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.10.004 · Cited by 345
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes
Girirajan, S., Brkanac, Z., Coe, B. P., Baker, C. A., Vives, L., Vu, T. H., Shafer, N., Bernier, R., Ferrero, G. B., Silengo, M., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002334 · Cited by 336
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
Zufferey, F., Sherr, E. H., Beckmann, N. D., Hanson, E., Maillard, A. M., Hippolyte, L., Macé, A., Ferrari, C., Kutalik, Z., Andrieux, J., et al. (2012) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-101203 · Cited by 326
Self-citationDeletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia
Moreno-De-Luca, D., Mulle, J. G., Kaminsky, E. B., Sanders, S. J., Myers, S. M., Adam, M. P., Pakula, A. T., Eisenhauer, N. J., Uhas, K., Weik, L., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.10.004 · Cited by 324
Self-citationPsychoeducational profile of the 22q11.2 microdeletion: A complex pattern
Moss, E. M., Batshaw, M. L., Solot, C. B., Gerdes, M., McDonald‐McGinn, D. M., Driscoll, D. A., Emanuel, B. S., Zackai, E. H., & Wang, P. P. (1999) · The Journal of Pediatrics · doi:10.1016/s0022-3476(99)70415-4 · Cited by 308
Deletions of NRXN1 (neurexin‐1) predispose to a wide spectrum of developmental disorders
Ching, M. S. L., Shen, Y., Tan, W., Jeste, S., Morrow, E. M., Chen, X., Mukaddes, N. M., Yoo, S.-Y., Hanson, E. M., Hundley, R. J., et al. (2010) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31063 · Cited by 304
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
Friedman, J. I., Vrijenhoek, T., Markx, S., Janssen, I. M., van der Vliet, W. A., Faas, B. H. W., Knoers, N. V. A. M., Cahn, W., Kahn, R. S., Edelmann, L. J., et al. (2007) · Molecular Psychiatry · doi:10.1038/sj.mp.4002049 · Cited by 297
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia
Gauthier, J., Siddiqui, T. J., Huashan, P., Yokomaku, D., Hamdan, F. F., Champagne, N., Lapointe, M., Spiegelman, D., Noreau, A., Lafrenière, R. G., et al. (2011) · Human Genetics · doi:10.1007/s00439-011-0975-z · Cited by 286
The quantitative nature of autistic social impairment
CONSTANTINO, J. N. (2011) · Pediatric Research · doi:10.1203/pdr.0b013e318212ec6e · Cited by 282
Ben-Shachar, S., Lanpher, B., German, J. R., Qasaymeh, M., Potocki, L., Nagamani, S. C. S., Franco, L. M., Malphrus, A., Bottenfield, G. W., Spence, J. E., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.064378 · Cited by 261
Familial Mental Retardation: A Continuing Dilemma
Zigler, E. (1967) · Science · doi:10.1126/science.155.3760.292 · Cited by 248
Verkerk, A., Mathews, C., Joosse, M., Eussen, B., Heutink, P., & Oostra, B. (2003) · Genomics · doi:10.1016/s0888-7543(03)00097-1 · Cited by 237
Developmental comorbidity in attention-deficit/hyperactivity disorder
Taurines, R., Schmitt, J., Renner, T., Conner, A. C., Warnke, A., & Romanos, M. (2010) · ADHD Attention Deficit and Hyperactivity Disorders · doi:10.1007/s12402-010-0040-0 · Cited by 198
Genetic insights into the causes and classification of the cerebral palsies
Moreno-De-Luca, A., Ledbetter, D. H., & Martin, C. L. (2012) · The Lancet Neurology · doi:10.1016/s1474-4422(11)70287-3 · Cited by 196
Self-citationGilger, J. W., & Kaplan, B. J. (2001) · Developmental Neuropsychology · doi:10.1207/s15326942dn2002_2 · Cited by 193
A 15q13.3 microdeletion segregating with autism
Pagnamenta, A. T., Wing, K., Akha, E. S., Knight, S. J. L., Bölte, S., Schmötzer, G., Duketis, E., Poustka, F., Klauck, S. M., Poustka, A., et al. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.228 · Cited by 177
Moreno-De-Luca, D., Sanders, S. J., Willsey, A. J., Mulle, J. G., Lowe, J. K., Geschwind, D. H., State, M. W., Martin, C. L., & Ledbetter, D. H. (2013) · Molecular Psychiatry · doi:10.1038/mp.2012.138 · Cited by 161
Self-citationChromosome 1q21.1 Contiguous Gene Deletion Is Associated With Congenital Heart Disease
Christiansen, J., Dyck, J. D., Elyas, B. G., Lilley, M., Bamforth, J. S., Hicks, M., Sprysak, K. A., Tomaszewski, R., Haase, S. M., Vicen-Wyhony, L. M., et al. (2004) · Circulation Research · doi:10.1161/01.res.0000130528.72330.5c · Cited by 156
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12
Nagamani, S. C. S., Erez, A., Shen, J. J., Li, C. C., Roeder, E. R., Cox, S., Karaviti, L. P., Pearson, M., Kang, S.-H. L., Sahoo, T., et al. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.174 · Cited by 144
Willcutt, E., Pennington, B. F., Duncan, L., Smith, S. D., Keenan, J., Wadsworth, S. J., Defries, J., & Olson, R. K. (2010) · Journal of Developmental and Behavioral Pediatrics · doi:10.1097/dbp.0b013e3181ef42a1 · Cited by 133
Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions
Schaaf, C. P., Boone, P. M., Sampath, S., Williams, C. A., Bader, P. I., Mueller, J. M., Shchelochkov, O. A., Brown, C., Crawford, H. P., Phalen, J. A., et al. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.95 · Cited by 127
Weisz, J. R., & Zigler, E. (1979) · Psychological Bulletin · doi:10.1037/0033-2909.86.4.831 · Cited by 125
ASD, a Psychiatric Disorder, or Both? Psychiatric Diagnoses in Adolescents with High-Functioning ASD
Mazefsky, C. A., Oswald, D. P., Day, T. N., Eack, S. M., Minshew, N. J., & Lainhart, J. E. (2012) · Journal of Clinical Child & Adolescent Psychology · doi:10.1080/15374416.2012.686102 · Cited by 111
Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion
Loirat, C., Bellanné‐Chantelot, C., Husson, I., Deschênes, G., Guigonis, V., & Chabane, N. (2010) · Nephrology Dialysis Transplantation · doi:10.1093/ndt/gfq380 · Cited by 94
Duong, L., Klitten, L. L., Møller, R. S., Ingason, A., Jakobsen, K. D., Skjødt, C., Didriksen, M., Hjalgrim, H., Werge, T. M., & Tommerup, N. (2012) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32036 · Cited by 76
Reiss, A. L. (2009) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2008.02046.x · Cited by 69
Understanding the impact of 1q21.1 copy number variant
Harvard, C., Strong, E., Mercier, E., Colnaghi, R., Alcantara, D., Chow, E. W. C., Martell, S., Tyson, C., Hrynchak, M. A., McGillivray, B. C., et al. (2011) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-6-54 · Cited by 55
Heredity in epilepsy: Neurodevelopment, comorbidity, and the neurological trait
Johnson, M. R., & Shorvon, S. D. (2011) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2011.07.031 · Cited by 48
Camacho, A., Simón, R., Sanz, R. L., et al. (2012) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2012.02.023 · Cited by 47
A Pediatric Overview of the Spectrum of Developmental Disabilities
Capute, A. J., & Palmer, F. B. S. C. (1980) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/00004703-198006000-00005 · Cited by 21
Syndromes of minimal brain dysfunction in children.
Rl, C. (1966) · PubMed · Cited by 4
Flagged first, then by citations
Research works printed but not linked: 2
- Dale, 2011, Infantile convulsions and paroxysmal kinesigenic dyskinesia with 16p11.2 microdeletion, Neurology, 77, 1401, 10.1212/WNL.0b013e31823152d7 · DOI
- Michelson, 2011, Evidence report: genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society, Neurology, 77, 1629, 10.1212/WNL.0b013e3182345896 · DOI
Cited by
Sorted by citations
Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci
Sanders, S. J., He, X., Willsey, A. J., Ercan-Sencicek, A. G., Samocha, K. E., Cicek, A. E., Murtha, M. T., Bal, V. H., Bishop, S. L., Dong, S., et al. (2015) · Neuron · doi:10.1016/j.neuron.2015.09.016 · Cited by 1,430
Self-citationIdentification, Evaluation, and Management of Children With Autism Spectrum Disorder
Hyman, S. L., Levy, S. E., Myers, S. M., COUNCIL ON CHILDREN WITH DISABILITIES, S. O. D. A. B. P., Kuo, D. Z., Apkon, S., Davidson, L. F., Ellerbeck, K. A., Foster, J. E. A., Noritz, G. H., et al. (2020) · Pediatrics · doi:10.1542/peds.2019-3447 · Cited by 1,798
Self-citationFrom the genetic architecture to synaptic plasticity in autism spectrum disorder
Bourgeron, T. (2015) · Nature Reviews Neuroscience · doi:10.1038/nrn3992 · Cited by 975
Jacquemont, S., Coe, B. P., Hersch, M., Duyzend, M. H., Krumm, N., Bergmann, S., Beckmann, J. S., Rosenfeld, J. A., & Eichler, E. E. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.02.001 · Cited by 605
Prenatal Poly(I:C) Exposure and Other Developmental Immune Activation Models in Rodent Systems
Meyer, U. (2014) · Biological Psychiatry · doi:10.1016/j.biopsych.2013.07.011 · Cited by 626
Loth, E., Charman, T., Mason, L., Tillmann, J., Jones, E. J. H., Wooldridge, C., Ahmad, J., Auyeung, B., Brogna, C., Ambrosino, S., et al. (2017) · Molecular Autism · doi:10.1186/s13229-017-0146-8 · Cited by 299
The promises and challenges of human brain organoids as models of neuropsychiatric disease
Quadrato, G., Brown, J., & Arlotta, P. (2016) · Nature Medicine · doi:10.1038/nm.4214 · Cited by 304
Hanson, E., Bernier, R., Porche, K., Jackson, F. I., Goin-Kochel, R. P., Snyder, L. G., Snow, A. V., Wallace, A. S., Campe, K. L., Zhang, Y., et al. (2015) · Biological Psychiatry · doi:10.1016/j.biopsych.2014.04.021 · Cited by 277
Self-citationKendall, K. M., Rees, E., Escott-Price, V., Einon, M., Thomas, R., Hewitt, J., O’Donovan, M. C., Owen, M. J., Walters, J. T. R., & Kirov, G. (2017) · Biological Psychiatry · doi:10.1016/j.biopsych.2016.08.014 · Cited by 226
The role of sex-differential biology in risk for autism spectrum disorder
Werling, D. M. (2016) · Biology of Sex Differences · doi:10.1186/s13293-016-0112-8 · Cited by 208
Pizzo, L., Jensen, M., Polyak, A., Rosenfeld, J. A., Mannik, K., Krishnan, A., McCready, E., Pichon, O., Le Caignec, C., Van Dijck, A., et al. (2019) · Genetics in Medicine · doi:10.1038/s41436-018-0266-3 · Cited by 193
Opposing Brain Differences in 16p11.2 Deletion and Duplication Carriers
Qureshi, A. Y., Mueller, S., Snyder, A. Z., Mukherjee, P., Berman, J. I., Roberts, T. P. L., Nagarajan, S. S., Spiro, J. E., Chung, W. K., Sherr, E. H., et al. (2014) · The Journal of Neuroscience · doi:10.1523/jneurosci.1366-14.2014 · Cited by 183
Autism traits in the RASopathies
Adviento, B., Corbin, I. L., Widjaja, F., Desachy, G., Enrique, N., Rosser, T., Risi, S., Marco, E. J., Hendren, R. L., Bearden, C. E., et al. (2014) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2013-101951 · Cited by 174
Insufficient Evidence for “Autism-Specific” Genes
Myers, S. M., Challman, T. D., Bernier, R., Bourgeron, T., Chung, W. K., Constantino, J. N., Eichler, E. E., Jacquemont, S., Miller, D. T., Mitchell, K. J., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.04.004 · Cited by 165
Self-citationA Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders
Gonzalez-Mantilla, A. J., Moreno-De-Luca, A., Ledbetter, D. H., & Martin, C. L. (2016) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2015.2692 · Cited by 139
Self-citationPersonality and self-insight in individuals with autism spectrum disorder.
Schriber, R. A., Robins, R. W., & Solomon, M. (2014) · Journal of Personality and Social Psychology · doi:10.1037/a0034950 · Cited by 150
What are neurodevelopmental disorders?
Ismail, F. Y., & Shapiro, B. K. (2019) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000710 · Cited by 141
An assessment of sex bias in neurodevelopmental disorders
Polyak, A., Rosenfeld, J. A., & Girirajan, S. (2015) · Genome Medicine · doi:10.1186/s13073-015-0216-5 · Cited by 129
Moreno-De-Luca, A., Evans, D. W., Boomer, K. B., Hanson, E., Bernier, R., Goin-Kochel, R. P., Myers, S. M., Challman, T. D., Moreno-De-Luca, D., Slane, M. M., et al. (2015) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2014.2147 · Cited by 137
Self-citationUljarević, M., Baranek, G., Vivanti, G., Hedley, D., Hudry, K., & Lane, A. (2017) · Autism Research · doi:10.1002/aur.1747 · Cited by 131
Harikumar, A., Evans, D. W., Dougherty, C. C., Carpenter, K. L. H., & Michael, A. M. (2021) · Brain Connectivity · doi:10.1089/brain.2020.0865 · Cited by 113
Self-citationElfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures
Tomioka, N. H., Yasuda, H., Miyamoto, H., Hatayama, M., Morimura, N., Matsumoto, Y., Suzuki, T., Odagawa, M., Odaka, Y. S., Iwayama, Y., et al. (2014) · Nature Communications · doi:10.1038/ncomms5501 · Cited by 113
Dougherty, C. C., Evans, D. W., Myers, S. M., Moore, G. J., & Michael, A. M. (2016) · Neuropsychology Review · doi:10.1007/s11065-015-9300-2 · Cited by 104
Self-citationBrikell, I., Ghirardi, L., D’Onofrio, B. M., Dunn, D. W., Almqvist, C., Dalsgaard, S., Kuja-Halkola, R., & Larsson, H. (2018) · Biological Psychiatry · doi:10.1016/j.biopsych.2017.08.006 · Cited by 85
First glimpses of the neurobiology of autism spectrum disorder
Sanders, S. J. (2015) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2015.10.002 · Cited by 84
The Roots of Autism and ADHD Twin Study in Sweden (RATSS)
Bölte, S., Willfors, C., Berggren, S., Norberg, J., Poltrago, L., Mevel, K., Coco, C., Fransson, P., Borg, J., Sitnikov, R., et al. (2014) · Twin Research and Human Genetics · doi:10.1017/thg.2014.12 · Cited by 71
Wagner, J. L., Wilson, D. A., Smith, G., Malek, A., & Selassie, A. W. (2015) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.12555 · Cited by 65
Autism spectrum disorder, developmental and psychiatric features in 16p11.2 duplication
on behalf of the Simons VIP consortium, Green Snyder, L., D’Angelo, D., Chen, Q., Bernier, R., Goin-Kochel, R. P., Wallace, A. S., Gerdts, J., Kanne, S., Berry, L., et al. (2016) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-016-2807-4 · Cited by 61
Self-citationLearning delays in a mouse model of autism spectrum disorder
Rendall, A. R., Truong, D. T., & Fitch, R. H. (2016) · Behavioural Brain Research · doi:10.1016/j.bbr.2016.02.006 · Cited by 34
Molecular subtyping and improved treatment of neurodevelopmental disease
Stessman, H. A. F., Turner, T. N., & Eichler, E. E. (2016) · Genome Medicine · doi:10.1186/s13073-016-0278-z · Cited by 25
Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report
Poisson, A., Chatron, N., Labalme, A., Fourneret, P., Ville, D., Mathieu, M. L., Sanlaville, D., Demily, C., & Lesca, G. (2020) · BMC Medical Genetics · doi:10.1186/s12881-019-0946-0 · Cited by 16
DSM-5 and Psychiatric Genetics — Round Hole, Meet Square Peg
Buxbaum, J. D. (2015) · Biological Psychiatry · doi:10.1016/j.biopsych.2015.02.031 · Cited by 9
Metadata
- Authors
- Moreno-De-Luca, A., Myers, S. M., Challman, T. D., Moreno-De-Luca, D., Evans, D. W., & Ledbetter, D. H.
- Affiliations
- Geisinger Medical Center (US)
- Bucknell University (US)
- Corresponding author
- Ledbetter, David H
- Venue
- The Lancet Neurology
- Publisher
- Elsevier BV
- Published
- 2013-04
- Volume
- 12
- Issue
- 4
- Pages
- 406-414
- ISSN
- 1474-4422 (ISSN-L)
- PMC
- PMC4013791
- OpenAlex
- W1995809507
- Cited by
- 330
- References
- 64
- Citations by year
- 2026: 7 · 2025: 17 · 2024: 27 · 2023: 21 · 2022: 23 · 2021: 29 · 2020: 25 · 2019: 22 · 2018: 25 · 2017: 23 · 2016: 33 · 2015: 32 · 2014: 27 · 2013: 17
- FWCI
- 4.47
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- The Lancet Neurology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Bucknell Digital Commons (Bucknell University) (submittedVersion)
- Funders
- National Institute of Mental Health (MH074090, R01MH074090)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD064525, RC2HD064525)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- neurodevelopmental disorders, neuropsychiatric disorders, copy number variation, single-gene mutations, genetic heterogeneity, penetrance, phenotypic variability, intelligence
- MeSH terms
- Animals, Autistic Disorder, Brain Diseases, Developmental Disabilities, Humans, Nervous System Diseases, Genetic Predisposition to Disease
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
