Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems
Open accessAbstract
Purpose : Recently, molecular cytogenetic techniques have identified novel copy number variants in individuals with schizophrenia. However, no large-scale prospective studies have been performed to characterize the broader spectrum of phenotypes associated with such copy number variants in individuals with unexplained physical and intellectual disabilities encountered in a diagnostic setting.Methods : We analyzed 38,779 individuals referred to our diagnostic laboratory for microarray testing for the presence of copy number variants encompassing 20 putative schizophrenia susceptibility loci. We also analyzed the indications for study for individuals with copy number variants overlapping those found in six individuals referred for schizophrenia.Results : After excluding larger gains or losses that encompassed additional genes outside the candidate loci (e.g., whole-arm gains/losses), we identified 1113 individuals with copy number variants encompassing schizophrenia susceptibility loci and 37 individuals with copy number variants overlapping those present in the six individuals referred to our laboratory for schizophrenia. Of these, 1035 had a copy number variant of one of six recurrent loci: 1q21.1, 15q11.2, 15q13.3, 16p11.2, 16p13.11, and 22q11.2. The indications for study for these 1150 individuals were diverse and included developmental delay, intellectual disability, autism spectrum, and multiple congenital anomalies.Conclusion : The results from our study, the largest genotype-first analysis of schizophrenia susceptibility loci to date, suggest that the phenotypic effects of copy number variants associated with schizophrenia are pleiotropic and imply the existence of shared biologic pathways among multiple neurodevelopmental conditions.
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In individuals with neurodevelopmental disorders, genetic screenings find 16p11.2 deletions at rates of 0.25-2.9% and duplications at rates of 0.15-0.78%.
“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 [26]
Schizophrenia appears to be associated more strongly with 16p11.2 duplications than with deletions.
“Schizophrenia (SZ) appears to be associated more strongly with 16p11.2 duplications [9, 25–27].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [26]
Developmental delays and craniofacial anomalies associated with a loss of genetic material at the NRG3 locus, accompanied by a gain of material at the DLGAP1 site, have been reported.
“Developmental delays and craniofacial anomalies associated with a loss of genetic material at the NRG3 locus, accompanied by a gain of material at the DLGAP1 site, have also been reported [97]”
From Self-domestication in Homo sapiens: Insights from comparative genomics (2017) · cites this paper as [97]
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Cites
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
The International Schizophrenia Consortium (2009) · Nature · doi:10.1038/nature08185 · Cited by 4,821 · see citing works
McDonald-McGinn, D. M., Sullivan, K. E., Marino, B., Philip, N., Swillen, A., Vorstman, J. A. S., Zackai, E. H., Emanuel, B. S., Vermeesch, J. R., Morrow, B. E., et al. (2015) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2015.71 · Cited by 2,236 · see citing works
Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Nord, A. S., Kusenda, M., Malhotra, D., Bhandari, A., et al. (2008) · Science · doi:10.1126/science.1155174 · Cited by 1,800 · see citing works
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 · see citing works
Common variants conferring risk of schizophrenia
†Genetic Risk and Outcome in Psychosis (GROUP), Stefansson, H., Ophoff, R. A., Steinberg, S., Andreassen, O. A., Cichon, S., Rujescu, D., Werge, T., Pietiläinen, O. P. H., Mors, O., et al. (2009) · Nature · doi:10.1038/nature08186 · Cited by 1,677 · see citing works
Rare chromosomal deletions and duplications increase risk of schizophrenia
The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475 · see citing works
Disruption of two novel genes by a translocation co-segregating with schizophrenia
Millar, J. K. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.9.1415 · Cited by 1,254 · see citing works
Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part II: Schizophrenia
Lewis, C. M., Levinson, D. F., Wise, L. H., DeLisi, L. E., Straub, R. E., Hovatta, I., Williams, N. M., Schwab, S. G., Pulver, A. E., Faraone, S. V., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/376549 · Cited by 1,134 · see citing works
High rates of schizophrenia in adults with velo-cardio-facial syndrome
Murphy, K. C., Jones, L. A., & Owen, M. J. (1999) · Archives of General Psychiatry · doi:10.1001/archpsyc.56.10.940 · Cited by 1,024 · see citing works
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 · see citing works
Blackwood, D., Fordyce, A., Walker, M. T., Clair, D. M. S., Porteous, D. J., & Muir, W. J. (2001) · The American Journal of Human Genetics · doi:10.1086/321969 · Cited by 734 · see citing works
Association within a family of a balanced autosomal translocation with major mental illness
St Clair, D., Blackwood, D., Muir, W., Walker, M., St Clair, D., Muir, W., Carothers, A., Spowart, G., Gosden, C., & Evans, H. J. (1990) · The Lancet · doi:10.1016/0140-6736(90)91520-k · Cited by 727 · see citing works
Microduplications of 16p11.2 are associated with schizophrenia
Wellcome Trust Case Control Consortium, McCarthy, S. E., Makarov, V., Kirov, G., Addington, A. M., McClellan, J., Yoon, S., Perkins, D. O., Dickel, D. E., Kusenda, M., et al. (2009) · Nature Genetics · doi:10.1038/ng.474 · Cited by 711 · see citing works
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Girirajan, S., Rosenfeld, J. A., Cooper, G. M., Antonacci, F., Siswara, P., Itsara, A., Vives, L., Walsh, T., McCarthy, S. E., Baker, C., et al. (2010) · Nature Genetics · doi:10.1038/ng.534 · Cited by 667 · see citing works
Self-citationCopy-number variations associated with neuropsychiatric conditions
Cook Jr, E. H., & Scherer, S. W. (2008) · Nature · doi:10.1038/nature07458 · Cited by 659 · see citing works
Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.
Karayiorgou, M., Morris, M. A., Morrow, B., Shprintzen, R. J., Goldberg, R., Borrow, J., Gos, A., Nestadt, G., Wolyniec, P. S., & Lasseter, V. K. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.17.7612 · Cited by 628 · see citing works
Population analysis of large copy number variants and hotspots of human genetic disease
Itsara, A., Cooper, G. M., Baker, C., Girirajan, S., Li, J., Absher, D., Krauss, R. M., Myers, R. M., Ridker, P. M., Chasman, D. I., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.12.014 · Cited by 591 · see citing works
Psychiatric genetics: progress amid controversy
Burmeister, M., McInnis, M. G., & Zöllner, S. K. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2381 · Cited by 522 · see citing works
Disruption of the neurexin 1 gene is associated with schizophrenia
Rujescu, D., Ingason, A., Cichon, S., Pietiläinen, O. P. H., Barnes, M. R., Toulopoulou, T., Picchioni, M., Vassos, E., Ettinger, U., Bramon, E., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddn351 · Cited by 471 · see citing works
Detection of sharing by descent, long-range phasing and haplotype imputation
Kong, A., Masson, G., Frigge, M. L., Gylfason, A., Zusmanovich, P., Thorleifsson, G., Olason, P. I., Ingason, A., Steinberg, S., Rafnar, T., et al. (2008) · Nature Genetics · doi:10.1038/ng.216 · Cited by 447 · see citing works
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
de Kovel, C. G. F., Trucks, H., Helbig, I., Mefford, H. C., Baker, C., Leu, C., Kluck, C., Muhle, H., von Spiczak, S., Ostertag, P., et al. (2010) · Brain · doi:10.1093/brain/awp262 · Cited by 445 · see citing works
A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia
Need, A. C., Ge, D., Weale, M. E., Maia, J. M., Feng, S., Heinzen, E. L., Shianna, K. V., Yoon, W., Kasperavičiūtė, D., Gennarelli, M., et al. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000373 · Cited by 443 · see citing works
Support for the involvement of large copy number variants in the pathogenesis of schizophrenia.
Kirov, G., Grozeva, D., Norton, N., Ivanov, D., Mantripragada, K. K., Holmans, P., International Schizophrenia Consortium, the Wellcome Trust Case Control Consortium, Craddock, N., Owen, M. J., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp043 · Cited by 390 · see citing works
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia
Kirov, G., Gumus, D., Chen, W., Norton, N., Georgieva, L., Sari, M., O'Donovan, M. C., Erdogan, F., Owen, M. J., Ropers, H.-H., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm323 · Cited by 377 · see citing works
Moskvina, V, Craddock, N., Holmans, P., Nikolov, I., Pahwa, J. S., Green, E., Wellcome Trust Case Control Consortium, Owen, M. J., & O'Donovan, M. C. (2009) · Molecular Psychiatry · doi:10.1038/mp.2008.133 · Cited by 363 · see citing works
Genomewide association for schizophrenia in the CATIE study: results of stage 1
Sullivan, P. F., Lin, D. Y., Tzeng, J., van den Oord, E. J. C. G., Perkins, D. O., Stroup, T. S., Wagner, M. J., Lee, S., Wright, F. A., Zou, F., et al. (2008) · Molecular Psychiatry · doi:10.1038/mp.2008.25 · Cited by 354 · see citing works
Symptoms, signs, and diagnosis of schizophrenia
Andreasen, N. (1995) · The Lancet · doi:10.1016/s0140-6736(95)91325-4 · Cited by 344 · see citing works
Sullivan, P. F. (2005) · PLoS Medicine · doi:10.1371/journal.pmed.0020212 · Cited by 324 · see citing works
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 · see citing works
Ballif, B. C., Theisen, A. P., Coppinger, J., Gowans, G. C., Hersh, J. H., Madan‐Khetarpal, S., Schmidt, K. R., Tervo, R. C., Escobar, L., Friedrich, C. A., et al. (2008) · Molecular Cytogenetics · doi:10.1186/1755-8166-1-8 · Cited by 297 · see citing works
Self-citationSchizophrenia: a common disease caused by multiple rare alleles
McClellan, J. M., Susser, E., & King, M.-C. (2007) · British Journal of Psychiatry · doi:10.1192/bjp.bp.106.025585 · Cited by 296 · see citing works
Meta-analysis of 32 genome-wide linkage studies of schizophrenia
Ng, M., Levinson, D. F., Faraone, S. V., Suarez, B. K., DeLisi, L. E., Arinami, T., Riley, B. P., Paunio, T., Pulver, A. E., Irmansyah, et al. (2008) · Molecular Psychiatry · doi:10.1038/mp.2008.135 · Cited by 279 · see citing works
Copy number variations of chromosome 16p13.1 region associated with schizophrenia
Ingason, A., Rujescu, D., Cichon, S., Sigurdsson, E., Sigmundsson, T., Pietiläinen, O. P. H., Buizer-Voskamp, J. E., Strengman, E., Francks, C., Muglia, P., et al. (2011) · Molecular Psychiatry · doi:10.1038/mp.2009.101 · Cited by 258 · see citing works
Elsea, S. H., & Girirajan, S. (2008) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5202009 · Cited by 241 · see citing works
Meur, N. L., Holder‐Espinasse, M., Jaillard, S., Goldenberg, A., Joriot, S., Amati‐Bonneau, P., Guichet, A., Barth, M., Charollais, A., Journel, H., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2009.069732 · Cited by 228 · see citing works
Fine, S. E., Weissman, A., Gerdes, M., Pinto‐Martin, J. A., Zackai, E. H., McDonald‐McGinn, D. M., & Emanuel, B. S. (2005) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-005-5036-9 · Cited by 216 · see citing works
Autistic Spectrum Disorders in Velo-cardio Facial Syndrome (22q11.2 Deletion)
Antshel, K. M., Aneja, A., Strunge, L., Peebles, J., Fremont, W. P., Stallone, K., AbdulSabur, N., Higgins, A. M., Shprintzen, R. J., & Kates, W. R. (2007) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-006-0308-6 · Cited by 183 · see citing works
Penetrance for copy number variants associated with schizophrenia
Vassos, E., Collier, D. A., Holden, S., Patch, C., Rujescu, D., St Clair, D., & Lewis, C. M. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq259 · Cited by 182 · see citing works
DISC1 association, heterogeneity and interplay in schizophrenia and bipolar disorder
Hennah, W., Thomson, P. A., McQuillin, A., Bass, N. J., Loukola, A., Anjorin, A., Blackwood, D., Curtis, D., Deary, I. J., Harris, S. E., et al. (2008) · Molecular Psychiatry · doi:10.1038/mp.2008.22 · Cited by 165 · see citing works
Schizophrenia and mental handicap: an historical review, with implications for further research
Turner, T. H. (1989) · Psychological Medicine · doi:10.1017/s0033291700012344 · Cited by 150 · see citing works
Murphy, K. C., & Owen, M. J. (2001) · The British Journal of Psychiatry · doi:10.1192/bjp.179.5.397 · Cited by 148 · see citing works
Mefford, H. C., Cooper, G. M., Zerr, T., Smith, J. D., Baker, C., Shafer, N., Thorland, E. C., Skinner, C., Schwartz, C. E., Nickerson, D. A., et al. (2009) · Genome Research · doi:10.1101/gr.094987.109 · Cited by 132 · see citing works
Chromosomal abnormalities and mental illness
MacIntyre, D. J., Blackwood, D., Porteous, D. J., Pickard, B. S., & Muir, W. J. (2003) · Molecular Psychiatry · doi:10.1038/sj.mp.4001232 · Cited by 107 · see citing works
Traylor, R. N., Fan, Z., Hudson, B., Rosenfeld, J. A., Shaffer, L. G., Torchia, B. S., & Ballif, B. C. (2009) · Molecular Cytogenetics · doi:10.1186/1755-8166-2-17 · Cited by 104 · see citing works
Self-citationPhenotypic and genetic complexity of psychosis
Craddock, N. J., O’Donovan, M. C., & Owen, M. J. (2007) · The British Journal of Psychiatry · doi:10.1192/bjp.bp.106.033761 · Cited by 103 · see citing works
Molecular characterization of de novo secondary trisomy 13.
Shaffer, L. G., McCaskill, C., Han, J., Choo, K. H. A., Cutillo, D. M., Donnenfeld, A. E., Weiss, L., & Dyke, D. L. V. (1994) · PubMed Central · Cited by 101 · see citing works
Self-citationSevere mental retardation, seizures, and hypotonia due to deletions of MEF2C
Nowakowska, B., Obersztyn, E., Szymańska, K., Bekiesińska‐Figatowska, M., Xia, Z., Ricks, C. B., Bocian, E., Stockton, D. W., Szczałuba, K., Nawara, M., et al. (2010) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31071 · Cited by 97 · see citing works
Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2
Ballif, B. C., Theisen, A. P., McDonald‐McGinn, D. M., Zackai, E. H., Hersh, J. H., Bejjani, B. A., & Shaffer, L. G. (2008) · Clinical Genetics · doi:10.1111/j.1399-0004.2008.01094.x · Cited by 86 · see citing works
Self-citationNeuroanatomy of comorbid schizophrenia and learning disability: a controlled study
Sanderson, T., Best, J. J. K., Doody, G. A., Owens, D. G. C., & Johnstone, E. C. (1999) · The Lancet · doi:10.1016/s0140-6736(99)01049-1 · Cited by 63 · see citing works
Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH
Neill, N. J., Torchia, B. S., Bejjani, B. A., Shaffer, L. G., & Ballif, B. C. (2010) · Molecular Cytogenetics · doi:10.1186/1755-8166-3-11 · Cited by 62 · see citing works
Self-citationMoorhead, T. W. J., Job, D. E., Whalley, H. C., Sanderson, T. L., Johnstone, E. C., & Lawrie, S. M. (2004) · NeuroImage · doi:10.1016/j.neuroimage.2003.12.012 · Cited by 56 · see citing works
5q14.3 Deletion Manifesting as Mitochondrial Disease and Autism: Case Report
Ezugha, H., Goldenthal, M. J., Valencia, I., Anderson, C. E., Legido, A., & Marks, H. G. (2010) · Journal of Child Neurology · doi:10.1177/0883073809361165 · Cited by 48 · see citing works
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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 · see citing works
The genetics of bipolar disorder
Gordovez, F. J. A., & McMahon, F. J. (2020) · Molecular Psychiatry · doi:10.1038/s41380-019-0634-7 · Cited by 268 · see citing works
Heterogeneity within Autism Spectrum Disorders: What have We Learned from Neuroimaging Studies?
Lenroot, R., & Yeung, P. K. (2013) · Frontiers in Human Neuroscience · doi:10.3389/fnhum.2013.00733 · Cited by 230 · see citing works
Collins, R. L., Brand, H., Redin, C. E., Hanscom, C., Antolik, C. W., Stone, M. R., Glessner, J., Mason, T., Pregno, G., Dorrani, N., et al. (2017) · Genome biology · doi:10.1186/s13059-017-1158-6 · Cited by 203 · see citing works
Self-domestication in Homo sapiens: Insights from comparative genomics
Theofanopoulou, C., Gastaldon, S., O’Rourke, T., Samuels, B. D., Messner, A., Martins, P. T., Delogu, F., Alamri, S., & Boeckx, C. (2017) · PLOS ONE · doi:10.1371/journal.pone.0185306 · Cited by 174 · see citing works
Autism spectrum disorder in the genetics clinic: a review
Carter, M., & Scherer, S. W. (2013) · Clinical Genetics · doi:10.1111/cge.12101 · Cited by 173 · see citing works
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 · see citing works
Olsen, L., Sparsø, T., Weinsheimer, S., Santos, M. B. Q. D., Mazin, W., Rosengren, A., Sánchez, X. C., Hoeffding, L. K., Schmock, H., Bækvad‐Hansen, M., et al. (2018) · The Lancet Psychiatry · doi:10.1016/s2215-0366(18)30168-8 · Cited by 137 · see citing works
Costain, G., Lionel, A. C., Merico, D., Forsythe, P., Russell, K., Lowther, C., Yuen, T., Husted, J., Stavropoulos, D. J., Speevak, M. D., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt297 · Cited by 134 · see citing works
1q21.1 Microduplication expression in adults
Dolcetti, A., Silversides, C. K., Marshall, C. R., Lionel, A. C., Stavropoulos, D. J., Scherer, S. W., & Bassett, A. S. (2012) · Genetics in Medicine · doi:10.1038/gim.2012.129 · Cited by 126 · see citing works
Mice with reduced NMDA receptor expression: more consistent with autism than schizophrenia?
Gandal, M. J., Anderson, R. L., Billingslea, E. N., Carlson, G. C., Roberts, T. P. L., & Siegel, S. J. (2012) · Genes Brain & Behavior · doi:10.1111/j.1601-183x.2012.00816.x · Cited by 120 · see citing works
Kerner, B. (2014) · The Application of Clinical Genetics · doi:10.2147/tacg.s39297 · Cited by 115 · see citing works
Béna, F., Bruno, D. L., Eriksson, M., van Ravenswaaij‐Arts, C., Stark, Z., Dijkhuizen, T., Gerkes, E., Gimelli, S., Ganesamoorthy, D., Thuresson, A. C., et al. (2013) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32148 · Cited by 109 · see citing works
Paciorkowski, A. R., Keppler‐Noreuil, K. M., Robinson, L. K., Sullivan, C. T., Sajan, S. A., Christian, S. L., Bukshpun, P., Gabriel, S. B., Gleeson, J. G., Sherr, E. H., et al. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35969 · Cited by 111 · see citing works
Brady, P., Chiaie, B. D., Christenhusz, G. M., Dierickx, K., Bogaert, K. V. D., Menten, B., Janssens, S., Defoort, P., Roets, E., Sleurs, E., et al. (2013) · Genetics in Medicine · doi:10.1038/gim.2013.168 · Cited by 107 · see citing works
Risk of Psychiatric Disorders Among Individuals With the 22q11.2 Deletion or Duplication
Hoeffding, L. K., Trabjerg, B. B., Olsen, L., Mazin, W., Sparsø, T., Vangkilde, A., Mortensen, P. B., Pedersen, C. B., & Werge, T. M. (2017) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2016.3939 · Cited by 102 · see citing works
The genomically mosaic brain: Aneuploidy and more in neural diversity and disease
Bushman, D. M., & Chun, J. J. M. (2013) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2013.02.003 · Cited by 93 · see citing works
Revitalizing Psychiatric Therapeutics
Hyman, S. E. (2013) · Neuropsychopharmacology · doi:10.1038/npp.2013.181 · Cited by 89 · see citing works
The complex behavioral phenotype of 15q13.3 microdeletion syndrome
Ziats, M. N., Goin‐Kochel, R. P., Berry, L. N., Ali, M. A., Ge, J., Guffey, D., Rosenfeld, J. A., Bader, P. I., Gambello, M. J., Wolf, V. L., et al. (2016) · Genetics in Medicine · doi:10.1038/gim.2016.9 · Cited by 88 · see citing works
Self-citationSchizophrenia genetics: emerging themes for a complex disorder
Kavanagh, D. H., Tansey, K. E., O’Donovan, M. C., & Owen, M. J. (2014) · Molecular Psychiatry · doi:10.1038/mp.2014.148 · Cited by 86 · see citing works
Harris, H. K., Nakayama, T., Lai, J. F., Zhao, B., Argyrou, N., Gubbels, C. S., Soucy, A., Genetti, C. A., Suslovitch, V., Rodan, L. H., et al. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01114-z · Cited by 85 · see citing works
Gregorio, E. D., Riberi, E., Belligni, E. F., Biamino, E., Spielmann, M., Ala, U., Calcia, A., Bagnasco, I., Carli, D., Gai, G., et al. (2017) · Clinical Genetics · doi:10.1111/cge.13009 · Cited by 82 · see citing works
Genetic causes of developmental disorders
Vorstman, J. A. S., & Ophoff, R. A. (2013) · Current Opinion in Neurology · doi:10.1097/wco.0b013e32835f1a30 · Cited by 81 · see citing works
Morris, G., Puri, B. K., & Frye, R. E. (2017) · Metabolic Brain Disease · doi:10.1007/s11011-017-0077-2 · Cited by 76 · see citing works
Neurodevelopmental Factors in Schizophrenia
Jaaro-Peled, H., & Sawa, A. (2020) · Psychiatric Clinics of North America · doi:10.1016/j.psc.2020.02.010 · Cited by 78 · see citing works
Nava, C., Keren, B., Mignot, C., Rastetter, A., Chantot‐Bastaraud, S., Faudet, A., Fonteneau, E., Amiet, C., Laurent‐Levinson, C., Jacquette, A., et al. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2013.88 · Cited by 73 · see citing works
Tabet, A., Verloès, A., Pilorge, M., Delaby, E., Delorme, R., Nygren, G., Devillard, F., Gérard, M., Passemard, S., Héron, D., et al. (2015) · Molecular Autism · doi:10.1186/s13229-015-0015-2 · Cited by 71 · see citing works
Bassett, A. S., & Costain, G. (2012) · The Application of Clinical Genetics · doi:10.2147/tacg.s21953 · Cited by 71 · see citing works
Association testing of copy number variants in schizophrenia and autism spectrum disorders
Crespi, B. J., & Crofts, H. (2012) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-4-15 · Cited by 66 · see citing works
Matsunami, N., Hadley, D., Hensel, C. H., Christensen, G. B., Kim, C., Frackelton, E. C., Thomas, K., da Silva, R. P., Stevens, J., Baird, L. M., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0052239 · Cited by 66 · see citing works
Phenotypic spectrum of <i>NRXN1</i> mono‐ and bi‐allelic deficiency: A systematic review
Castronovo, P., Baccarin, M., Ricciardello, A., Picinelli, C., Tomaiuolo, P., Cucinotta, F., Frittoli, M., Lintas, C., Sacco, R., & Persico, A. M. (2020) · Clinical Genetics · doi:10.1111/cge.13537 · Cited by 65 · see citing works
Rein, B., Tan, T., Yang, F., Wang, W., Williams, J., Zhang, F., Mills, A., & Yan, Z. (2021) · Molecular Psychiatry · doi:10.1038/s41380-020-0693-9 · Cited by 58 · see citing works
The future of genomics for developmentalists
Plomin, R. J., & Simpson, M. A. (2013) · Development and Psychopathology · doi:10.1017/s0954579413000606 · Cited by 64 · see citing works
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 · see citing works
Brison, N., Bogaert, K. V. D., Dehaspe, L., van den Oever, J. M. E., Janssens, K., Blaumeiser, B., Peeters, H., Esch, H. V., Buggenhout, G. V., Vogels, A., et al. (2016) · Genetics in Medicine · doi:10.1038/gim.2016.113 · Cited by 61 · see citing works
Bradshaw, N. J., & Hayashi, M. A. F. (2016) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-016-2395-7 · Cited by 59 · see citing works
Demkow, U. A., & Wolańczyk, T. (2017) · Translational Psychiatry · doi:10.1038/tp.2017.106 · Cited by 52 · see citing works
Genomic Disorders and Neurocognitive Impairment in Pediatric CKD
Verbitsky, M., Kogon, A. J., Matheson, M. B., Hooper, S. R., Wong, C. S., Warady, B. A., Furth, S. L., & Gharavi, A. G. (2017) · Journal of the American Society of Nephrology · doi:10.1681/asn.2016101108 · Cited by 51 · see citing works
Houcinat, N., Llanas, B., Moutton, S., Toutain, J., Cailley, D., Arveiler, B., Combe, C., Lacombe, D., & Rooryck, C. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37212 · Cited by 47 · see citing works
Vysotskiy, M., Zhong, X. Y., Miller‐Fleming, T. W., Zhou, D., Cox, N. J., & Weiss, L. A. (2021) · Genome Medicine · doi:10.1186/s13073-021-00972-1 · Cited by 47 · see citing works
Soler‐Alfonso, C., Carvalho, C. M. B., Ge, J., Roney, E. K., Bader, P. I., Kołodziejska, K. E., Miller, R. M., Lupski, J. R., Stankiewicz, P., Cheung, S. W., et al. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2013.302 · Cited by 47 · see citing works
NDE1 and NDEL1: twin neurodevelopmental proteins with similar ‘nature’ but different ‘nurture’
Bradshaw, N. J., Hennah, W., & Soares, D. C. (2013) · BioMolecular Concepts · doi:10.1515/bmc-2013-0023 · Cited by 45 · see citing works
Genomic Disorders in Psychiatry-What Does the Clinician Need to Know?
Lowther, C., Costain, G., Baribeau, D. A., & Bassett, A. S. (2017) · Current Psychiatry Reports · doi:10.1007/s11920-017-0831-5 · Cited by 41 · see citing works
Wiśniowiecka‐Kowalnik, B., Kastory-Bronowska, M., Bartnik, M., Derwińska, K., Dymczak-Domini, W., Szumbarska, D., Ziemka, E., Szczałuba, K., Sykulski, M., Gambin, T., et al. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.219 · Cited by 43 · see citing works
Chen, X., Shen, Y., Zhang, F., Chiang, C., Pillalamarri, V., Blumenthal, I., Talkowski, M. E., Wu, B.-L., & Gusella, J. F. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.02.006 · Cited by 43 · see citing works
Gadow, K., Perlman, G., & Weber, R. J. (2017) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-016-3004-1
Brady, P., DeKoninck, P. L. J., Fryns, J. P., Devriendt, K., Deprest, J. A., & Vermeesch, J. R. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4244 · Cited by 41 · see citing works
Understanding stigma toward schizophrenia
Mannarini, S., Taccini, F., Sato, I., & Rossi, A. A. (2022) · Psychiatry Research · doi:10.1016/j.psychres.2022.114970 · Cited by 41 · see citing works
Disorders Associated With Diverse, Recurrent Deletions and Duplications at 1q21.1
Pang, H., Yu, X., Kim, Y. M., Wang, X., Jinkins, J. K., Yin, J., Li, S., & Gu, H. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.00577 · Cited by 36 · see citing works
Reggiani, C., Coppens, S., Sékhara, T., Dimov, I., Pichon, B., Lufin, N., Addor, M., Belligni, E. F., Digilio, M. C., Faletra, F., et al. (2017) · Genome Medicine · doi:10.1186/s13073-017-0452-y · Cited by 34 · see citing works
Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses
Uchiyama, Y., Yamaguchi, D., Iwama, K., Miyatake, S., Hamanaka, K., Tsuchida, N., Aoi, H., Azuma, Y., Itai, T., Saida, K., et al. (2020) · Human Mutation · doi:10.1002/humu.24129 · Cited by 34 · see citing works
Rots, D., Choufani, S., Faùndes, V., Dingemans, A. J. M., Joss, S. K., Foulds, N. C., Jones, E. A., Stewart, S., Vasudevan, P. C., Dabir, T. A., et al. (2024) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2024.06.009 · Cited by 31 · see citing works
Gadow, K. D., & Drabick, D. A. G. (2012) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2012.01.004 · Cited by 26 · see citing works
Gadow, K. D. (2013) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2013.01.011 · Cited by 25 · see citing works
Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation
Karlslätt, K. S., Pettersson, M., Jäntti, N., Szafrański, P., Wester, T., Husberg, B., Ullberg, U., Stankiewicz, P., Nordgren, A., Lundin, J., et al. (2019) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.549 · Cited by 20 · see citing works
Genetic investigation for adults with intellectual disability
Baker, K., Raymond, F. L., & Bass, N. J. (2012) · Current Opinion in Neurology · doi:10.1097/wco.0b013e328351820e · Cited by 20 · see citing works
Nguyen, L. T., Fleishman, R., Flynn, E. C., Prasad, R., Moulick, A. N., Mesia, C. I., Moyer, S., & Jethva, R. (2017) · Clinical Case Reports · doi:10.1002/ccr3.815 · Cited by 19 · see citing works
Disorders of mineral homeostasis in children and adolescents
Root, A. W., & Diamond, F. (2014) · Elsevier eBooks · doi:10.1016/b978-1-4557-4858-7.00027-5 · Cited by 19 · see citing works
Bradshaw, N. J., Ukkola‐Vuoti, L., Pankakoski, M., Zheutlin, A. B., Ortega‐Alonso, A., Torniainen‐Holm, M., Sinha, V., Therman, S., Paunio, T., Suvisaari, J., et al. (2017) · Open Biology · doi:10.1098/rsob.170153 · Cited by 17 · see citing works
Foley, C., Heron, E. A., Harold, D. H., Walters, J., Owen, M. J., O’Donovan, M. C., Sebat, J. L., Kelleher, E., Mooney, C., Durand, A., et al. (2020) · The British Journal of Psychiatry · doi:10.1192/bjp.2019.262 · Cited by 17 · see citing works
Connolly, J. J., Glessner, J., Almoguera, B., Crosslin, D., Jarvik, G., Sleiman, P., & Hakonarson, H. (2014) · Frontiers in Genetics · doi:10.3389/fgene.2014.00051 · Cited by 14 · see citing works
Ma, Y., Bendl, J. M., Hartley, B. J., Fullard, J. F., Abdelaal, R., Ho, S., Kosoy, R., Gochman, P., Rapoport, J. L., Hoffman, G. E., et al. (2023) · Biological Psychiatry · doi:10.1016/j.biopsych.2023.07.003 · Cited by 13 · see citing works
Liao, H.-C., Liao, C.-H., Kao, S.-M., Chiang, C.-C., & Chen, Y.-J. (2018) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2018.08.072 · Cited by 14 · see citing works
Chang, J., Zhao, L., Chen, C., Peng, Y., Xia, Y., Tang, G., Bai, T., Zhang, Y., Ma, R., Guo, R., et al. (2015) · Gene · doi:10.1016/j.gene.2015.04.090 · Cited by 12 · see citing works
Adult expression of a 3q13.31 microdeletion
Lowther, C., Costain, G., Melvin, R., Stavropoulos, D. J., Lionel, A. C., Marshall, C. R., Scherer, S. W., & Bassett, A. S. (2014) · Molecular Cytogenetics · doi:10.1186/1755-8166-7-23 · Cited by 12 · see citing works
Developmental psychopathology: The role of structural variation in the genome
Gill, M. (2012) · Development and Psychopathology · doi:10.1017/s0954579412000739 · Cited by 11 · see citing works
Priol, A.-C., Denis, L., Boulanger, G., Thépaut, M., Geoffray, M., & Tordjman, S. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22179464 · Cited by 11 · see citing works
Using rare genetic mutations to revisit structural brain asymmetry
Kopál, J., Kumar, K., Shafighi, K., Saltoun, K., Modenato, C., Moreau, C. A., Huguet, G., Jean‐Louis, M., Martin, C.-O., Saci, Z., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-46784-w · Cited by 10 · see citing works
Neurexin1α knockout in rats causes aberrant social behaviour: relevance for autism and schizophrenia
Achterberg, E. J. M., Biemans, B., & Vanderschuren, L. J. M. J. (2025) · Psychopharmacology · doi:10.1007/s00213-024-06559-z · Cited by 9 · see citing works
Hypoparathyroidism in children and adolescents
Korkmaz, H. A., & Özkan, B. (2023) · Annals of Pediatric Endocrinology & Metabolism · doi:10.6065/apem.2346096.048 · Cited by 9 · see citing works
Case reports of two siblings with autism spectrum disorder and 15q13.3 deletions
Furukawa, S., Kushima, I., Aleksić, B., & Ozaki, N. (2023) · Neuropsychopharmacology Reports · doi:10.1002/npr2.12340 · Cited by 9 · see citing works
Analysis of a Protein Network Related to Copy Number Variations in Autism Spectrum Disorder
Schuch, J. B., Paixão‐Côrtes, V. R., Longo, D., Roman, T., Riesgo, R. D. S., Ranzan, J., Becker, M. M., Riegel, M., & Schüler‐Faccini, L. (2019) · Journal of Molecular Neuroscience · doi:10.1007/s12031-019-01343-7 · Cited by 9 · see citing works
Root, A. W., & Levine, M. A. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-62520-3.00020-8 · Cited by 9 · see citing works
Harris, H. K., Nakayama, T., Lai, J. F., Zhao, B., Argyrou, N., Gubbels, C. S., Soucy, A., Genetti, C. A., Rodan, L. H., Tiller, G. E., et al. (2020) · medRxiv · doi:10.1101/2020.09.09.20187104 · Cited by 8 · see citing works
Correia, M. N., Kankel, S., Carreira, I. M., Melo, J. B., & Liehr, T. (2025) · Cytogenetic and Genome Research · doi:10.1159/000545602 · Cited by 7 · see citing works
Zhang, S., Shi, K., Lyu, N., Zhang, Y., Liang, G., Zhang, W., Wang, X., Wen, H., Wen, L., Ma, H., et al. (2023) · The World Journal of Biological Psychiatry · doi:10.1080/15622975.2023.2198595 · Cited by 7 · see citing works
Application of Array-Based Comparative Genomic Hybridization to Pediatric Neurologic Diseases
Byeon, J. H., Shin, E., Kim, G.-H., Lee, K., Hong, Y. S., Lee, J. W., & Eun, B. (2013) · Yonsei Medical Journal · doi:10.3349/ymj.2014.55.1.30 · Cited by 7 · see citing works
Bradshaw, N. J. (2016) · Neuroscience · doi:10.1016/j.neuroscience.2016.03.018 · Cited by 7 · see citing works
Lengyel, A., Pinti, É., Pikó, H., Jávorszky, E., David, D., Tihanyi, M., Gönczi, É., Kiss, E., Tóth, Z., Tory, K., et al. (2020) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2020.104027 · Cited by 7 · see citing works
Xiang, X., Pan, X., Lv, W., Chen, S., Li, J., Zhang, H., Liao, Y., Yu, J., Li, J., Dang, Y., et al. (2023) · Clinical and Translational Medicine · doi:10.1002/ctm2.1488 · Cited by 6 · see citing works
Alsagob, M., Salih, M. A. M., Hamad, M. H., Alyafee, Y., Al‐Zahrani, J., AlBakheet, A., Nester, M. J., Sakati, N., Wakil, S. M., Al‐Odaib, A., et al. (2019) · Molecular Cytogenetics · doi:10.1186/s13039-019-0432-6 · Cited by 5 · see citing works
Is Chromosome 15q13.3 Duplication Involving CHRNA7 Associated With Oral Clefts?
Xie, Y. (2015) · Child Neurology Open · doi:10.1177/2329048x15618918 · Cited by 5 · see citing works
Chen, C. (2025) · Taiwanese Journal of Obstetrics and Gynecology · doi:10.1016/j.tjog.2025.05.010 · Cited by 4 · see citing works
Duplication of chromosome 16p13.11-p12.3 with different expressions in the same family
Pop-Jordanova, N. D., Zorčec, T., & Sukarova-Angelovska, E. (2021) · Balkan Journal of Medical Genetics · doi:10.2478/bjmg-2021-0010 · Cited by 4 · see citing works
The Paradox of Copy Number Variants in ASD and Schizophrenia: False Facts or False Hypotheses?
Crespi, B. J. (2018) · Review Journal of Autism and Developmental Disorders · doi:10.1007/s40489-018-0132-x · Cited by 4 · see citing works
Nieto, S. J., Grodin, E. N., & Ray, L. A. (2020) · Expert Review of Precision Medicine and Drug Development · doi:10.1080/23808993.2020.1724510 · Cited by 5 · see citing works
Genetic Dissection of Temperament Personality Traits in Italian Isolates
Concas, M. P., Minelli, A., Aere, S., Morgan, A., Tesolin, P., Gasparini, P., Gennarelli, M., & Girotto, G. (2021) · Genes · doi:10.3390/genes13010004 · Cited by 4 · see citing works
Yeh, E., & Weiss, L. A. (2016) · Molecular and Cellular Probes · doi:10.1016/j.mcp.2016.10.007 · Cited by 3 · see citing works
Xu, F., & Li, P. (2013) · InTech eBooks · doi:10.5772/55689 · Cited by 3 · see citing works
Xavier, R. M., Bian, W., Alshammari, F. T., Harner, M. K., Dietterich, T. E., Lichtenstein, M. L., Stowe, R., Farrell, M. S., Szatkiewicz, J., Shaughnessy, R. A., et al. (2025) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2025.111462 · Cited by 2 · see citing works
Chen, C.-P., Wu, F.-T., Pan, Y.-T., Wu, P.-S., & Wang, W. (2025) · Taiwanese Journal of Obstetrics and Gynecology · doi:10.1016/j.tjog.2024.12.015 · Cited by 2 · see citing works
An Evolutionary Biology Approach to Understanding Neurological Disorders
Aziz, A., Ilievska, J., Paul, R., & Naomi, E. (2012) · InTech eBooks · doi:10.5772/37919 · Cited by 2 · see citing works
Bradshaw, N. J., Ukkola-Vuoti, L., Pankakoski, M., Zheutlin, A. B., Ortega-Alonso, A., Torniainen‐Holm, M., Sinha, V., Therman, S., Paunio, T., Suvisaari, J., et al. (2016) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/087007 · Cited by 2 · see citing works
Vysotskiy, M., Zhong, X. Y., Miller‐Fleming, T. W., Zhou, D., Cox, N. J., & Weiss, L. A. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.06.23.166181 · Cited by 2 · see citing works
Chen, C. (2026) · Taiwanese Journal of Obstetrics and Gynecology · doi:10.1016/j.tjog.2026.03.009 · Cited by 1 · see citing works
Perspectivas actuales sobre el diagnóstico genómico en pediatría
Guillermo Lay-Son, R., & León, L. E. (2015) · Revista chilena de pediatría · doi:10.1016/j.rchipe.2015.04.002 · Cited by 1 · see citing works
A Gene-Based Algorithm for Identifying Factors That May Affect a Speaker’s Voice
Singh, R. (2023) · Entropy · doi:10.3390/e25060897 · Cited by 1 · see citing works
Chen, C.-P. (2025) · Taiwanese Journal of Obstetrics and Gynecology · doi:10.1016/j.tjog.2024.10.004 · Cited by 1 · see citing works
Abumadini, M. S., Ghamdi, K. S. A., Alqahtani, A. H., Almedallah, D. K., Callans, L. E., Jarad, J. A., Cyrus, C., Koeleman, B. P. C., Keating, B. J., Pankratz, N., et al. (2023) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2023.1069375 · Cited by 1 · see citing works
RARE GENOMIC DELETIONS UNDERLYING SCHIZOPHRENIA AND RELATED NEURODEVELOPMENTAL DISORDERS
Pietiläinen, O. P. H. (2014) · Työväentutkimus Vuosikirja · Cited by 1 · see citing works
- Authors
- Sahoo, T., Theisen, A., Rosenfeld, J. A., Lamb, A. N., Ravnan, J. B., Schultz, R. A., Torchia, B. S., Neill, N., Casci, I., Bejjani, B. A., & Shaffer, L. G.
- Corresponding author
- Shaffer, Lisa G.
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2011-10
- Volume
- 13
- Issue
- 10
- Pages
- 868-880
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W2054476466
- Cited by
- 115
- References
- 52
- Citations by year
- 2026: 3 · 2025: 5 · 2024: 3 · 2023: 8 · 2022: 2 · 2021: 12 · 2020: 11 · 2019: 5 · 2018: 3 · 2017: 13 · 2016: 7 · 2015: 5 · 2014: 9 · 2013: 19 · 2012: 10
- FWCI
- 7.58
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Genetics in Medicine (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Keywords
- copy number variation, schizophrenia, 1q21.1, 15q11.2, 15q13.3, 16p11.2, 22q11.2, developmental delay, intellectual disability, autism spectrum disorder, congenital malformations, pleiotropy, neurodevelopmental disorders, speech delay, behavioral problems
- MeSH terms
- Adolescent, Behavioral Symptoms, Child, Developmental Disabilities, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Female, Humans, Infant, Infant, Newborn, Language Development Disorders, Male, Schizophrenia, Genetic Predisposition to Disease, Heredity, Comparative Genomic Hybridization, Young Adult, Genetic Loci, Genetic Association Studies, DNA Copy Number Variations, Chromosome Duplication
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