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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
Open accessAbstract
Background: Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay. Method: We indentified 27 deletions and 18 duplications of 16p11.2 were identified in 0.6% of all samples submitted for clinical array-CGH (comparative genomic hybridisation) analysis. Detailed molecular and phenotypic characterisations were performed on 17 deletion subjects and ten subjects with the duplication. Results: The most common clinical manifestations in 17 deletion and 10 duplication subjects were speech/language delay and cognitive impairment. Other phenotypes in the deletion patients included motor delay (50%), seizures (∼40%), behavioural problems (∼40%), congenital anomalies (∼30%), and autism (∼20%). The phenotypes among duplication patients included motor delay (6/10), behavioural problems (especially attention deficit hyperactivity disorder (ADHD)) (6/10), congenital anomalies (5/10), and seizures (3/10). Patients with the 16p11.2 deletion had statistically significant macrocephaly (p<0.0017) and 6 of the 10 patients with the duplication had microcephaly. One subject with the deletion was asymptomatic and another with the duplication had a normal cognitive and behavioural phenotype. Genomic analyses revealed additional complexity to the 16p11.2 region with mechanistic implications. The chromosomal rearrangement was de novo in all but 2 of the 10 deletion cases in which parental studies were available. Additionally, 2 de novo cases were apparently mosaic for the deletion in the analysed blood sample. Three de novo and 2 inherited cases were observed in the 5 of 10 duplication patients where data were available. Conclusions: Recurrent reciprocal 16p11.2 deletion and duplication are characterised by a spectrum of primarily neurocognitive phenotypes that are subject to incomplete penetrance and variable expressivity. The autism and macrocephaly observed with deletion and ADHD and microcephaly seen in duplication patients support a diametric model of autism spectrum and psychotic spectrum behavioural phenotypes in genomic sister disorders.
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In the citing paper
“Deletions and duplications of 16p11.2 have highly pleiotropic phenotypic effects, with strong links to ASD [8–19], ID [8, 10, 12, 14–16, 19–21], motor/developmental delay [8–10, 12, 13, 15–19, 22], dysmorphic features [8, 12, 16, 17, 22], and epilepsy/seizures [10, 12, 17].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [17]
In the citing paper
“Deletions of 16p11.2 are associated with increased head circumference (macrocephaly) [10, 12, 17, 23] and obesity [10, 12, 16, 20], whereas duplications often result in below average head size (microcephaly) [10, 17, 23, 24] and low body weight/BMI [10, 24].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [17]
In the citing paper
“Motor delays are reported at rates of 57.1% [15] and 50% [17] in deletion carriers, and in 60% of duplication carriers [17].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [17]
In the citing paper
“Data compiled from eight studies [13, 15–17, 20, 24, 26, 33] screening individuals with either ASD, ID, developmental delay (DD), dysmorphic features (DF), multiple congenital anomalies (MCA), obesity, or seizures find 16p11.2 deletions at rates of 0.25–2.9%, and duplications at rates between 0.15–0.78% (Table 1).”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [17]
In the citing paper
“Epilepsy/seizures ranks among the most common phenotypes observed in both 16p11.2 deletions and duplications [10, 12, 16, 17, 33, 36] (Table 2).”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [17]
In the citing paper
“Duplications are similarly associated with speech articulation abnormalities [36], speech delay [17, 19], and language deficits [16].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [17]
In the citing paper
“Attention-deficit/hyperactivity disorder (ADHD) is also observed in 16p11.2 CNV carriers [12, 15–17, 19, 23, 48], at rates as high as 29% (63/217) and 42% (48/114) in deletion and duplication carriers, respectively [34].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [17]
In the citing paper
“Variability of phenotype is also characteristic of recurrent ASD-associated CNVs, such as 16p11.2, which has been linked not only to ASD but also to schizophrenia, epilepsy, ADHD, and obesity (Mccarthy et al., 2009; Shinawi et al., 2010; Walters et al., 2010; Weiss et al., 2008).”
From Using Whole-Exome Sequencing to Identify Inherited Causes of Autism (2013) · cites this paper as Shinawi et al., 2010
In the citing paper
“For example reciprocal deletion and duplication of 16p11.2 result in similar brain structural alterations in human and mouse, the deletion associated with brain overgrowth and the duplication associated with reduced brain volume (Horev et al., 2011; McCarthy et al., 2009; Shinawi et al., 2010), and structural alterations appear to be widely distributed across multiple brain regions.”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Shinawi et al., 2010
In the citing paper
“For example reciprocal deletion and duplication of 16p11.2 result in similar brain structural alterations in human and mouse, the deletion associated with brain overgrowth and the duplication associated with reduced brain volume (Horev et al., 2011; McCarthy et al., 2009; Shinawi et al., 2010), and structural alterations appear to be widely distributed across multiple brain regions.”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Shinawi et al., 2010
In the citing paper
“Macrocephaly is observed in subjects with the 16p11.2 microdeletion, whereas carriers of the duplication show microcephaly [227, 292, 326, 337].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [326]
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Citations
Cites
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
Structural Variation of Chromosomes in Autism Spectrum Disorder
Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.009 · Cited by 1,815 · cited 4×
“Marshall et al observed a similar 1% frequency among patients with autism.(5) However, these studies did not present a detailed phenotypic characterisation of individuals with the 16p11.”
BackgroundInfluentialLarge 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
Rare chromosomal deletions and duplications increase risk of schizophrenia
The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475
Genome architecture, rearrangements and genomic disorders
Stankiewicz, P., & Lupski, J. R. (2002) · Trends in Genetics · doi:10.1016/s0168-9525(02)02592-1 · Cited by 944
Self-citationLupski, J. R. (1998) · Trends in Genetics · doi:10.1016/s0168-9525(98)01555-8 · Cited by 908
Self-citationRecurrent 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
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
Sharp, A. J., Hansen, S., Selzer, R. R., Cheng, Z., Regan, R., Hurst, J. A., Stewart, H., Price, S. M., Blair, E., Hennekam, R. C., et al. (2006) · Nature Genetics · doi:10.1038/ng1862 · Cited by 658
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Burnside, R. D. (2015) · Cytogenetic and Genome Research · doi:10.1159/000438708 · Cited by 1,964
Genetic architectures of psychiatric disorders: the emerging picture and its implications
Sullivan, P. F., Daly, M. J., & O'Donovan, M. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3240 · Cited by 1,177
Betancur, C. (2011) · Brain Research · doi:10.1016/j.brainres.2010.11.078 · Cited by 954
CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
Malhotra, D., & Sebat, J. (2012) · Cell · doi:10.1016/j.cell.2012.02.039 · Cited by 854
Chromosome Abnormalities and Genetic Counseling
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.001.0001 · Cited by 858
Rare de novo and transmitted copy-number variation in autistic spectrum disorders
Levy, D., Ronemus, M., Yamrom, B., Lee, Y.-H., Leotta, A., Kendall, J., Marks, S., Lakshmi, B., Pai, D., Ye, K., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.015 · Cited by 712
Genetics of autism spectrum disorders
Geschwind, D. H. (2011) · Trends in Cognitive Sciences · doi:10.1016/j.tics.2011.07.003 · Cited by 696
Autism spectrum disorder: neuropathology and animal models
Varghese, M., Keshav, N., Jacot-Descombes, S., Warda, T., Wicinski, B., Dickstein, D. L., Harony-Nicolas, H., De Rubeis, S., Drapeau, E., Buxbaum, J. D., et al. (2017) · Acta Neuropathologica · doi:10.1007/s00401-017-1736-4 · Cited by 536
Autism spectrum disorders-a genetics review
Miles, J. H. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3181ff67ba · Cited by 567
Genetic architecture in autism spectrum disorder
Devlin, B., & Scherer, S. W. (2012) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2012.03.002 · Cited by 545
Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
Yu, T. W., Chahrour, M. H., Coulter, M. E., Jiralerspong, S., Okamura-Ikeda, K., Ataman, B., Schmitz-Abe, K., Harmin, D. A., Adli, M., Malik, A. N., et al. (2013) · Neuron · doi:10.1016/j.neuron.2012.11.002 · Cited by 442
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
Levinson, D. F., Duan, J., Oh, S., Wang, K., Sanders, A. R., Shi, J., Zhang, N., Mowry, B. J., Olincy, A., Amin, F., et al. (2011) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2010.10060876 · Cited by 434
The genetics of attention deficit/hyperactivity disorder in adults, a review
on behalf of the International Multicentre persistent ADHD CollaboraTion (IMpACT), Franke, B., Faraone, S. V., Asherson, P., Buitelaar, J., Bau, C. H. D., Ramos-Quiroga, J. A., Mick, E., Grevet, E. H., Johansson, S., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2011.138 · Cited by 432
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant
Golzio, C., Willer, J., Talkowski, M. E., Oh, E. C., Taniguchi, Y., Jacquemont, S., Reymond, A., Sun, M., Sawa, A., Gusella, J. F., et al. (2012) · Nature · doi:10.1038/nature11091 · Cited by 410
Clan Genomics and the Complex Architecture of Human Disease
Lupski, J. R., Belmont, J. W., Boerwinkle, E., & Gibbs, R. A. (2011) · Cell · doi:10.1016/j.cell.2011.09.008 · Cited by 375
Self-citationRare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD
Lionel, A. C., Crosbie, J., Barbosa, N., Goodale, T., Thiruvahindrapuram, B., Rickaby, J., Gazzellone, M. J., Carson, A. R., Howe, J., Wang, Z., et al. (2011) · Science Translational Medicine · doi:10.1126/scitranslmed.3002464 · Cited by 374
Genetics of Early Onset Cognitive Impairment
Ropers, H. (2010) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082509-141640 · Cited by 398
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
Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence
Moreno-De-Luca, A., Myers, S. M., Challman, T. D., Moreno-De-Luca, D., Evans, D. W., & Ledbetter, D. H. (2013) · The Lancet Neurology · doi:10.1016/s1474-4422(13)70011-5 · Cited by 330
Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism
Horev, G., Ellegood, J., Lerch, J. P., Son, Y.-E. E., Muthuswamy, L., Vogel, H., Krieger, A. M., Buja, A., Henkelman, R. M., Wigler, M., et al. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1114042108 · Cited by 330
Genomics, Intellectual Disability, and Autism
Mefford, H. C., Batshaw, M. L., & Hoffman, E. P. (2012) · New England Journal of Medicine · doi:10.1056/nejmra1114194 · Cited by 329
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
Phenotypic variability and genetic susceptibility to genomic disorders
Girirajan, S., & Eichler, E. E. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq366 · Cited by 281
Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms
Walker, R. L., Ramaswami, G., Hartl, C., Mancuso, N., Gandal, M. J., de la Torre-Ubieta, L., Paşaniuc, B., Stein, J. L., & Geschwind, D. H. (2019) · Cell · doi:10.1016/j.cell.2019.09.021 · Cited by 262
Portmann, T., Yang, M., Mao, R., Panagiotakos, G., Ellegood, J., Dolen, G., Bader, P. L., Grueter, B. A., Goold, C., Fisher, E., et al. (2014) · Cell Reports · doi:10.1016/j.celrep.2014.03.036 · Cited by 245
Rare copy number variants are an important cause of epileptic encephalopathies
Mefford, H. C., Yendle, S. C., Hsu, C., Cook, J., Geraghty, E., McMahon, J. M., Eeg‐Olofsson, O., Sadleir, L. G., Gill, D., Ben‐Zeev, B., et al. (2011) · Annals of Neurology · doi:10.1002/ana.22645 · Cited by 247
Kosmicki, J. A., Sochat, V., Duda, M., & Wall, D. P. (2015) · Translational Psychiatry · doi:10.1038/tp.2015.7 · Cited by 259
A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk
Blair, D. R., Lyttle, C. S., Mortensen, J. M., Bearden, C. F., Jensen, A. B., Khiabanian, H., Melamed, R., Rabadan, R., Bernstam, E. V., Brunak, S., et al. (2013) · Cell · doi:10.1016/j.cell.2013.08.030 · Cited by 215
Bergen, S. E., O'Dushlaine, C. T., Ripke, S., Lee, P. H., Ruderfer, D. M., Akterin, S., Moran, J. L., Chambert, K. D., Handsaker, R. E., Backlund, L., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2012.73 · Cited by 244
Steinman, K. J., Spence, S. J., Ramocki, M. B., Proud, M. B., Kessler, S. K., Marco, E. J., Green Snyder, L., D'Angelo, D., Chen, Q., Chung, W. K., et al. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37820 · Cited by 218
Self-citationThe 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity
16p11.2 European Consortium, Maillard, A. M., Ruef, A., Pizzagalli, F., Migliavacca, E., Hippolyte, L., Adaszewski, S., Dukart, J., Ferrari, C., Conus, P., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.145 · Cited by 217
Doherty, J. L., & Owen, M. J. (2014) · Genome Medicine · doi:10.1186/gm546 · Cited by 228
Poelmans, G., Pauls, D. L., Buitelaar, J. K., & Franke, B. (2011) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2010.10070948 · Cited by 223
Silverman, J. L., Pride, M. C., Hayes, J. E., Puhger, K. R., Butler-Struben, H. M., Baker, S., & Crawley, J. N. (2015) · Neuropsychopharmacology · doi:10.1038/npp.2015.66 · Cited by 215
Copy number variations in neurodevelopmental disorders
Grayton, H. M., Fernandes, C., Rujescu, D., & Collier, D. A. (2012) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2012.07.005 · Cited by 217
Copy Number Variations and Cognitive Phenotypes in Unselected Populations
Männik, K., Mägi, R., Macé, A., Cole, B., Guyatt, A. L., Shihab, H. A., Maillard, A. M., Alavere, H., Kolk, A., Reigo, A., et al. (2015) · JAMA · doi:10.1001/jama.2015.4845 · Cited by 205
Copy Number and SNP Arrays in Clinical Diagnostics
Schaaf, C. P., Wiszniewska, J., & Beaudet, A. L. (2011) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-092010-110715 · Cited by 200
Self-citationOpposing 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
Copy number variants are frequent in genetic generalized epilepsy with intellectual disability
Mullen, S. A., Carvill, G. L., Bellows, S., Bayly, M. A., Berkovic, S. F., Dibbens, L. M., Scheffer, I. E., & Mefford, H. C. (2013) · Neurology · doi:10.1212/wnl.0b013e3182a95829 · Cited by 188
Genetics of schizophrenia: new findings and challenges
Gejman, P. V., Sanders, A. R., & Kendler, K. S. (2011) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082410-101459 · Cited by 183
The clinical context of copy number variation in the human genome
Lee, C., & Scherer, S. W. (2010) · Expert Reviews in Molecular Medicine · doi:10.1017/s1462399410001390 · Cited by 188
Arbogast, T., Ouagazzal, A.-M., Chevalier, C., Kopanitsa, M., Afinowi, N., Migliavacca, E., Cowling, B. S., Birling, M.-C., Champy, M.-F., Reymond, A., et al. (2016) · PLOS Genetics · doi:10.1371/journal.pgen.1005709 · Cited by 151
Luo, R., Sanders, S. J., Tian, Y., Voineagu, I., Huang, N., Chu, S. H., Klei, L., Cai, C., Ou, J., Lowe, J. K., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.05.011 · Cited by 167
The Simons VIP Consortium (2012) · Neuron · doi:10.1016/j.neuron.2012.02.014 · Cited by 165
Griswold, A. J., Ma, D., Cukier, H. N., Nations, L. D., Schmidt, M. A., Chung, R.-H., Jaworski, J. M., Salyakina, D., Konidari, I., Whitehead, P. L., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds164 · Cited by 191
Autism spectrum disorder in the genetics clinic: a review
Carter, M., & Scherer, S. W. (2013) · Clinical Genetics · doi:10.1111/cge.12101 · Cited by 190
Copy number variation plays an important role in clinical epilepsy
Olson, H. E., Shen, Y., Avallone, J., Sheidley, B. R., Pinsky, R., Bergin, A. M. R., Berry, G. T., Duffy, F. H., Ekşioğlu, Y. Z., Harris, D. J., et al. (2014) · Annals of Neurology · doi:10.1002/ana.24178 · Cited by 177
Richter, M., Murtaza, N., Scharrenberg, R., White, S. H., Johanns, O., Walker, S., Yuen, R. K. C., Schwanke, B., Bedürftig, B., Henis, M., et al. (2019) · Molecular Psychiatry · doi:10.1038/s41380-018-0025-5 · Cited by 169
16p11.2 Copy Number Variations and Neurodevelopmental Disorders
Rein, B., & Yan, Z. (2020) · Trends in Neurosciences · doi:10.1016/j.tins.2020.09.001 · Cited by 160
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes
Reijnders, M. R. F., Ansor, N. M., Kousi, M., Yue, W. W., Tan, P. L., Clarkson, K., Clayton-Smith, J., Corning, K., Jones, J. R., Lam, W. W. K., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.08.007 · Cited by 168
Kctd13 deletion reduces synaptic transmission via increased RhoA
Escamilla, C. O., Filonova, I., Walker, A. K., Xuan, Z. X., Holehonnur, R., Espinosa, F., Liu, S., Thyme, S. B., López-García, I. A., Mendoza, D. B., et al. (2017) · Nature · doi:10.1038/nature24470 · Cited by 165
The Emerging Clinical Neuroscience of Autism Spectrum Disorder
Muhle, R., Reed, H. E., Stratigos, K. A., & Veenstra-VanderWeele, J. M. (2018) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2017.4685 · Cited by 176
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes
Yuan, B., Pehli̇van, D., Karaca, E., Patel, N., Charng, W., Gambin, T., Gonzaga-Jauregui, C. G., Sutton, V. R., Yeşil, G., Bozdoğan, S. T., et al. (2015) · Journal of Clinical Investigation · doi:10.1172/jci77435 · Cited by 161
Self-citationCellular phenotypes in human iPSC-derived neurons from a genetic model of autism spectrum disorder
Deshpande, A., Yadav, S., Dao, D. Q., Wu, Z.-Y., Hokanson, K. C., Cahill, M. K., Wiita, A. P., Jan, Y.-N., Ullian, E. M., & Weiss, L. A. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.11.037 · Cited by 151
Structural variation mutagenesis of the human genome: Impact on disease and evolution
Lupski, J. R. (2015) · Environmental and Molecular Mutagenesis · doi:10.1002/em.21943 · Cited by 151
Self-citationDoc2 supports spontaneous synaptic transmission by a Ca2+-independent mechanism
Pang, Z., Bacaj, T., Yang, X., Zhou, P., Xu, W., & Südhof, T. (2011) · Neuron · doi:10.1016/j.neuron.2011.03.011 · Cited by 157
Ricard, G., Molina, J., Chrast, J., Gu, W., Gheldof, N., Pradervand, S., Schütz, F., Young, J. I., Lupski, J. R., Reymond, A., et al. (2010) · PLoS Biology · doi:10.1371/journal.pbio.1000543 · Cited by 150
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Carvalho, C. M. B., Pehli̇van, D., Ramocki, M. B., Fang, P., Alleva, B., Franco, L. M., Belmont, J. W., Hastings, P. J., & Lupski, J. R. (2013) · Nature Genetics · doi:10.1038/ng.2768 · Cited by 152
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Niarchou, M., Chawner, S. J. R. A., Doherty, J. L., Maillard, A. M., Jacquemont, S., Chung, W. K., Green-Snyder, L., Bernier, R. A., Goin-Kochel, R. P., Hanson, E., et al. (2019) · Translational Psychiatry · doi:10.1038/s41398-018-0339-8 · Cited by 156
Gudmundsson, O. O., Walters, G. B., Ingason, A., Johansson, S., Zayats, T., Athanasiu, L., Sonderby, I. E., Gustafsson, O., Nawaz, M. S., Jonsson, G. F., et al. (2019) · Translational Psychiatry · doi:10.1038/s41398-019-0599-y · Cited by 128
Megalencephaly and hemimegalencephaly: Breakthroughs in molecular etiology
Mirzaa, G., & Poduri, A. (2014) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31401 · Cited by 136
High rate of disease-related copy number variations in childhood onset schizophrenia
Ahn, K., Gotay, N., Andersen, T. M., Anvari, A. A., Gochman, P., Lee, Y., Sanders, S., Guha, S., Darvasi, A., Glessner, J., et al. (2013) · Molecular Psychiatry · doi:10.1038/mp.2013.59 · Cited by 133
Dittwald, P., Gambin, T., Szafrański, P., Li, J., Amato, S., Divon, M. Y., Rojas, L. X. R., Elton, L., Scott, D. A., Schaaf, C. P., et al. (2013) · Genome Research · doi:10.1101/gr.152454.112 · Cited by 131
Self-citationThe continuum of causality in human genetic disorders
Katsanis, N. (2016) · Genome biology · doi:10.1186/s13059-016-1107-9 · Cited by 126
Cognitive and behavioral characterization of 16p11.2 deletion syndrome
Hanson, E., Nasir, R. H., Fong, A., Lian, A., Hundley, R., Shen, Y., Wu, B.-L., Holm, I. A., & Miller, D. T. (2010) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/dbp.0b013e3181ea50ed · Cited by 125
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
2p15 Consortium, Loviglio, M. N., 16p11.2 Consortium, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., et al. (2017) · Molecular Psychiatry · doi:10.1038/mp.2016.84 · Cited by 118
Risk factors for autism: translating genomic discoveries into diagnostics
Scherer, S. W., & Dawson, G. (2011) · Human Genetics · doi:10.1007/s00439-011-1037-2 · Cited by 134
Torres, F., Barbosa, M., & Maciel, P. (2015) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103366 · Cited by 126
Replication stress and mechanisms of CNV formation
Arlt, M. F., Wilson, T. E., & Glover, T. W. (2012) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2012.01.009 · Cited by 133
Chromosomal microarray testing influences medical management
Coulter, M. E., Miller, D. T., Harris, D. J., Hawley, P. P., Picker, J. D., Roberts, A. E., Sobeih, M. M., & Irons, M. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e31821dd54a · Cited by 122
Genomic Copy Number Variation in Disorders of Cognitive Development
Morrow, E. M. (2010) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2010.08.009 · Cited by 124
Nik‐Zainal, S., Strick, R., Storer, M. A., Huang, N., Rad, R., Willatt, L. R., Fitzgerald, T. W., Martín, V., Sandford, R. N., Carter, N. P., et al. (2011) · Journal of Medical Genetics · doi:10.1136/jmg.2010.082412 · Cited by 120
The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome?
Barge‐Schaapveld, D. Q. C. M., Maas, S. M., Polstra, A. M., Knegt, L. C., & Hennekam, R. C. M. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33991 · Cited by 122
Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling
Gardner, R. J. M., & Amor, D. J. (2018) · doi:10.1093/med/9780199329007.001.0001 · Cited by 122
Compared to What? Early Brain Overgrowth in Autism and the Perils of Population Norms
Raznahan, A., Wallace, G. L., Antezana, L., Greenstein, D. K., Lenroot, R., Thurm, A. E., Gozzi, M., Spence, S. J., Martin, A. D., Swedo, S. E., et al. (2013) · Biological Psychiatry · doi:10.1016/j.biopsych.2013.03.022 · Cited by 120
Phenotypic manifestations of copy number variation in chromosome 16p13.11
Nagamani, S. C. S., Erez, A., Bader, P. I., Lalani, S. R., Scott, D. A., Scaglia, F., Plon, S. E., Tsai, C.-H., Reimschisel, T. E., Roeder, E. R., et al. (2010) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.184 · Cited by 119
Self-citationDale, R. C., Grattan‐Smith, P. J., Nicholson, M., & Peters, G. B. (2012) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.2012.04287.x · Cited by 116
Brunner, D., Kabitzke, P., He, D., Cox, K., Thiede, L., Hanania, T., Sabath, E., Alexandrov, V., Saxe, M., Peles, E., et al. (2015) · PLOS ONE · doi:10.1371/journal.pone.0134572 · Cited by 111
Link, N., Chung, H.-L., Jolly, A., Withers, M. A., Tepe, B., Arenkiel, B. R., Shah, P. S., Krogan, N. J., Aydın, H., Geçkinli, B. B., et al. (2019) · Developmental Cell · doi:10.1016/j.devcel.2019.10.009 · Cited by 108
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Barnard, R., Pomaville, M. B., & O’Roak, B. J. (2015) · Frontiers in Neuroscience · doi:10.3389/fnins.2015.00477 · Cited by 111
Jarick, I., Volckmar, A., Pütter, C., Pechlivanis, S., Nguyen, T. T., Dauvermann, M. R., Beck, S., Albayrak, Ö., Scherag, S., Gilsbach, S., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2012.161 · Cited by 111
Common variant at 16p11.2 conferring risk of psychosis
Steinberg, S., de Jong, S., Mattheisen, M., Costas, J., Demontis, D., Jamain, S., Pietiläinen, O. P. H., Lin, K., Papiol, S., Huttenlocher, J., et al. (2014) · Molecular Psychiatry · doi:10.1038/mp.2012.157 · Cited by 104
Genes associated with autism spectrum disorder
Li, X., Zou, H., & Brown, W. T. (2012) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2012.05.017 · Cited by 107
Crabtree, G. W., & Gogos, J. A. (2014) · Frontiers in Synaptic Neuroscience · doi:10.3389/fnsyn.2014.00028 · Cited by 106
Yang, M., Mahrt, E. J., Lewis, F., Foley, G., Portmann, T., Dolmetsch, R. E., Portfors, C. V., & Crawley, J. N. (2015) · Autism Research · doi:10.1002/aur.1465 · Cited by 96
Stray‐Pedersen, A., Jouanguy, E., Créquer-Grandhomme, A., Bertuch, A. A., Brown, B. S., Jhangiani, S. N., Muzny, D. M., Gambin, T., Sorte, H. S., Sasa, G., et al. (2014) · Journal of Clinical Immunology · doi:10.1007/s10875-014-0074-8 · Cited by 99
Self-citationRamocki, M. B., Bartnik, M., Szafrański, P., Kołodziejska, K. E., Xia, Z., Bravo, J., Miller, G. S., Rodríguez, D. L., Williams, C. A., Bader, P. I., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.10.019 · Cited by 99
Self-citationThe clinical significance of small copy number variants in neurodevelopmental disorders
Asadollahi, R., Oneda, B., Joset, P., Azzarello‐Burri, S., Bartholdi, D., Steindl, K., Vincent, M., Cobilanschi, J., Sticht, H., Baldinger, R., et al. (2014) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2014-102588 · Cited by 103
The genomics of schizophrenia: update and implications
Giusti‐Rodríguez, P., & Sullivan, P. F. (2013) · Journal of Clinical Investigation · doi:10.1172/jci66031 · Cited by 99
Chung, W. K., Roberts, T. P. L., Sherr, E. H., Snyder, L. G., & Spiro, J. E. (2021) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2021.01.011 · Cited by 106
Wat, M. J., Veenma, D. C. M., Hogue, J. S., Holder, A. M., Yu, Z., Wat, J. J., Hanchard, N. A., Shchelochkov, O. A., Fernandes, C. J., Johnson, A., et al. (2011) · Journal of Medical Genetics · doi:10.1136/jmg.2011.089680 · Cited by 96
Self-citationEpigenetic Impacts on Neurodevelopment: Pathophysiological Mechanisms and Genetic Modes of Action
Zahir, F., & Brown, C. J. (2011) · Pediatric Research · doi:10.1203/pdr.0b013e318213565e · Cited by 93
Blaker, A. L., Gupta, S. K., McCammon, J. M., Rienzo, G. D., & Sive, H. L. (2012) · Disease Models & Mechanisms · doi:10.1242/dmm.009944 · Cited by 92
Severe phenotypic spectrum of biallelic mutations inPRRT2gene
Delcourt, M., Riant, F., Mancini, J., Milh, M., Navarro, V., Roze, E. F., Humbertclaude, V. T., Korff, C. M., Portes, V. D., Szepetowski, P., et al. (2015) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2014-309025 · Cited by 89
Liu, J., Wu, N., Yang, N., Takeda, K., Chen, W., Li, W., Du, R., Liu, S., Zhou, Y., Zhang, L., et al. (2019) · Genetics in Medicine · doi:10.1038/s41436-018-0377-x · Cited by 87
Self-citationDeep phenotyping of speech and language skills in individuals with 16p11.2 deletion
Mei, C., Fedorenko, E., Amor, D. J., Boys, A., Hoeflin, C., Carew, P., Burgess, T., Fisher, S. E., & Morgan, A. T. (2018) · European Journal of Human Genetics · doi:10.1038/s41431-018-0102-x · Cited by 80
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications
Liu, P., Erez, A., Nagamani, S. C. S., Bi, W., Carvalho, C. M. B., Simmons, A. D., Wiszniewska, J., Fang, P., Eng, P. A., Cooper, M. L., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr078 · Cited by 85
Self-citationIyer, J. S., Singh, M. D., Jensen, M., Patel, P. T., Pizzo, L., Huber, E., Koerselman, H., Weiner, A. T., Lepanto, P., Vadodaria, K., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-04882-6 · Cited by 81
The number of genomic copies at the 16p11.2 locus modulates language, verbal memory, and inhibition
Hippolyte, L., Maillard, A. M., Rodriguez-Herreros, B., Pain, A., Martin-Brevet, S., Ferrari, C., Conus, P., Macé, A., Hadjikhani, N., Metspalu, A., et al. (2016) · Biological Psychiatry · doi:10.1016/j.biopsych.2015.10.021 · Cited by 84
Metadata
- Authors
- 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., Clark, G., Lee, J., Proud, M., Stocco, A., Rodriguez, D. L., Kozel, B. A., Sparagana, S., Roeder, E. R., McGrew, S. G., Kurczynski, T. W., Allison, L. J., Amato, S., Savage, S., Patel, A., Stankiewicz, P., Beaudet, A. L., Cheung, S. W., & Lupski, J. R.
- Affiliations
- Baylor College of Medicine (US)
- Children's Hospital Central California (US)
- Texas Children's Hospital (US)
- Washington University in St. Louis (US)
- Texas Scottish Rite Hospital for Children (US)
- The University of Texas at San Antonio Health Science Center (US)
- Monroe Carell Jr. Children's Hospital (US)
- Akron Children's Hospital (US)
- Eastern Maine Medical Center (US)
- Corresponding author
- Cheung, Sau Wai
- ORCID
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2009-11-12
- Volume
- 47
- Issue
- 5
- Pages
- 332-341
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- PMC
- PMC3158566
- OpenAlex
- W2151523001
- Cited by
- 580
- References
- 49
- Citations by year
- 2026: 10 · 2025: 17 · 2024: 21 · 2023: 26 · 2022: 24 · 2021: 33 · 2020: 21 · 2019: 35 · 2018: 62 · 2017: 23 · 2016: 25 · 2015: 44 · 2014: 36 · 2013: 43 · 2012: 58
- FWCI
- 31.02
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Journal of Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke (R01NS058529)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD037283)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- 16p11.2, 16p11.2 deletion, 16p11.2 duplication, global developmental delay, autism spectrum disorder, macrocephaly, microcephaly, epilepsy, attention deficit hyperactivity disorder, behavioral problems, dysmorphic features, de novo rearrangement, mosaicism, incomplete penetrance, variable expressivity, neurocognitive phenotype, array comparative genomic hybridization
- MeSH terms
- Abnormalities, Multiple, Adolescent, Attention Deficit Disorder with Hyperactivity, Autistic Disorder, Child, Developmental Disabilities, Child, Preschool, Chromosome Aberrations, Chromosome Deletion, Chromosomes, Human, Pair 16, Epilepsy, Female, Humans, Infant, Language Development Disorders, Male, Intellectual Disability, Microcephaly, Phenotype, Craniofacial Abnormalities, Oligonucleotide Array Sequence Analysis, Comparative Genomic Hybridization, Young Adult, Segmental Duplications, Genomic
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