Genomic Disorders in Psychiatry-What Does the Clinician Need to Know?

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., Church, D. M., Crolla, J. A., Eichler, E. E., Epstein, C. J., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.006 · Cited by 2,882 · see citing works

Structural variation in the human genome

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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 · see citing works

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 · see citing works

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Marshall, C. R., Howrigan, D. P., Merico, D., Thiruvahindrapuram, B., Wu, W., Greer, D. S., Antaki, D., Shetty, A., Holmans, P. A., Pinto, D., et al. (2017) · Nature Genetics · doi:10.1038/ng.3725 · Cited by 1,058 · see citing works

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

Pinto, D., Delaby, E., Merico, D., Barbosa, M., Merikangas, A., Klei, L., Thiruvahindrapuram, B., Xu, X., Ziman, R., Wang, Z., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.03.018 · Cited by 969 · see citing works

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

C Yuen, R. K., Merico, D., Bookman, M., L Howe, J., Thiruvahindrapuram, B., Patel, R. V., Whitney, J., Deflaux, N., Bingham, J., Wang, Z., et al. (2017) · Nature Neuroscience · doi:10.1038/nn.4524 · Cited by 844 · see citing works

Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome: Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome

Schneider, M., Debbané, M., Bassett, A. S., Chow, E. W. C., Fung, W. L. A., van den Bree, M. B. M., Owen, M., Murphy, K. C., Niarchou, M., Kates, W. R., et al. (2014) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2013.13070864 · Cited by 779 · see citing works

Mechanisms underlying structural variant formation in genomic disorders

Carvalho, C. M. B., & Lupski, J. R. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2015.25 · Cited by 774 · see citing works

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Coe, B. P., Witherspoon, K., Rosenfeld, J. A., van Bon, B. W. M., Vulto-van Silfhout, A. T., Bosco, P., Friend, K. L., Baker, C., Buono, S., Vissers, L. E. L. M., et al. (2014) · Nature Genetics · doi:10.1038/ng.3092 · Cited by 720 · see citing works

CNVs conferring risk of autism or schizophrenia affect cognition in controls

Stefansson, H., Meyer-Lindenberg, A., Steinberg, S., Magnusdottir, B., Morgen, K., Arnarsdottir, S., Bjornsdottir, G., Walters, G. B., Jonsdottir, G. A., Doyle, O. M., et al. (2014) · Nature · doi:10.1038/nature12818 · Cited by 699 · see citing works

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

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 · see citing works

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

Girirajan, S., Rosenfeld, J. A., Coe, B. P., Parikh, S., Friedman, N., Goldstein, A., Filipink, R. A., McConnell, J. S., Angle, B., Meschino, W. S., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1200395 · Cited by 621 · see citing works

A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

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 · see citing works

Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis

Williams, N. M., Zaharieva, I., Martin, A., Langley, K., Mantripragada, K., Fossdal, R., Stefansson, H., Stefansson, K., Magnusson, P., Gudmundsson, O. O., et al. (2010) · The Lancet · doi:10.1016/s0140-6736(10)61109-9 · Cited by 572 · see citing works

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

Elia, J., Gai, X., Xie, H. M., Perin, J. C., Geiger, E., Glessner, J. T., D'arcy, M., deBerardinis, R., Frackelton, E., Kim, C., et al. (2010) · Molecular Psychiatry · doi:10.1038/mp.2009.57 · Cited by 529 · see citing works

Autism genetics: opportunities and challenges for clinical translation

Vorstman, J. A. S., Parr, J. R., Moreno‐De‐Luca, D., Anney, R., Nürnberger, J. I., & Hallmayer, J. F. (2017) · Nature Reviews Genetics · doi:10.1038/nrg.2017.4 · Cited by 466 · see citing works

Analysis of copy number variations at 15 schizophrenia-associated loci

Rees, E., Walters, J. T. R., Georgieva, L., Isles, A. R., Chambert, K. D., Richards, A. L., Mahoney-Davies, G., Legge, S. E., Moran, J. L., McCarroll, S. A., et al. (2014) · British Journal of Psychiatry · doi:10.1192/bjp.bp.113.131052 · Cited by 443 · see citing works

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

Tammimies, K., Marshall, C. R., Walker, S., Kaur, G., Thiruvahindrapuram, B., Lionel, A. C., Yuen, R. K. C., Uddin, M., Roberts, W., Weksberg, R., et al. (2015) · JAMA · doi:10.1001/jama.2015.10078 · Cited by 419 · see citing works

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

Elia, J., Glessner, J. T., Wang, K., Takahashi, N., Shtir, C. J., Hadley, D., Sleiman, P. M. A., Zhang, H., Kim, C. E., Robison, R., et al. (2012) · Nature Genetics · doi:10.1038/ng.1013 · Cited by 406 · see citing works

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

Shen, Y., Dies, K. A., Holm, I. A., Bridgemohan, C., Sobeih, M. M., Caronna, E. B., Miller, K. J., Frazier, J. A., Silverstein, I., Picker, J., et al. (2010) · Pediatrics · doi:10.1542/peds.2009-1684 · Cited by 394 · see citing works

Rare 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 366 · see citing works

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Stavropoulos, D. J., Merico, D., Jobling, R. K., Bowdin, S. C., Monfared, N., Thiruvahindrapuram, B., Nalpathamkalam, T., Pellecchia, G., Yuen, R. K. C., Szego, M. J., et al. (2016) · npj Genomic Medicine · doi:10.1038/npjgenmed.2015.12 · Cited by 366 · see citing works

Fecundity of patients with schizophrenia, autism, bipolar disorder, depression, anorexia nervosa, or substance abuse vs their unaffected siblings

Power, R. A., Kyaga, S., Uher, R., MacCabe, J. H., Långström, N., Landen, M., McGuffin, P., Lewis, C. M., Lichtenstein, P., & Svensson, A. C. (2013) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2013.268 · Cited by 336 · see citing works

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 · see citing works

High frequencies of de novo CNVs in bipolar disorder and schizophrenia

Malhotra, D., McCarthy, S., Michaelson, J. J., Vacic, V., Burdick, K. E., Yoon, S., Cichon, S., Corvin, A., Gary, S., Gershon, E. S., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.11.007 · Cited by 325 · see citing works

Practical guidelines for managing adults with 22q11.2 deletion syndrome

Fung, W. L. A., Butcher, N. J., Costain, G., Andrade, D. M., Boot, E., Chow, E. W. C., Chung, B., Cytrynbaum, C., Faghfoury, H., Fishman, L., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2014.175 · Cited by 312 · see citing works

Cognitive Decline Preceding the Onset of Psychosis in Patients With 22q11.2 Deletion Syndrome

Vorstman, J. A. S., Breetvelt, E., Duijff, S. N., Eliez, S., Schneider, M., Jalbrzikowski, M., Armando, M., Vicari, S., Shashi, V., Hooper, S. R., et al. (2015) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2014.2671 · Cited by 296 · see citing works

Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities

D’Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Macé, A., et al. (2016) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2015.2123 · Cited by 277 · see citing works

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

Talkowski, M. E., Mullegama, S. V., Rosenfeld, J. A., van Bon, B. W. M., Shen, Y., Repnikova, E. A., Gastier-Foster, J., Thrush, D. L., Kathiresan, S., Ruderfer, D. M., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.09.011 · Cited by 249 · see citing works

Advancing epilepsy genetics in the genomic era

Myers, C. T., & Mefford, H. C. (2015) · Genome Medicine · doi:10.1186/s13073-015-0214-7 · Cited by 247 · see citing works

Genomic disorders ten years on

Lupski, J. R. (2009) · Genome Medicine · doi:10.1186/gm42 · Cited by 218 · see citing works

Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism

Fernandez, T. V., Sanders, S., Yurkiewicz, I. R., Ercan‐Sencicek, A. G., Kim, Y.-S., Fishman, D. O., Raubeson, M. J., Song, Y., Yasuno, K., Ho, W. S., et al. (2011) · Biological Psychiatry · doi:10.1016/j.biopsych.2011.09.034 · Cited by 207 · see citing works

Clinical and biological progress over 50 years in Rett syndrome

Leonard, H., Cobb, S., & Downs, J. A. (2016) · Nature Reviews Neurology · doi:10.1038/nrneurol.2016.186 · Cited by 205 · see citing works

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 201 · see citing works

Copy Number Variations in Schizophrenia: Critical Review and New Perspectives on Concepts of Genetics and Disease

Bassett, A. S., Scherer, S. W., & Brzustowicz, L. M. (2010) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2009.09071016 · Cited by 201 · see citing works

Rapid whole genome sequencing and precision neonatology

Petrikin, J. E., Willig, L. K., Smith, L. D., & Kingsmore, S. F. (2015) · Seminars in Perinatology · doi:10.1053/j.semperi.2015.09.009 · Cited by 188 · see citing works

Copy number variation in bipolar disorder

Green, E., Rees, E., Walters, J., Gordon‐Smith, K., Forty, L., Grozeva, D., Moran, J. L., Sklar, P. B., Ripke, S., Chambert, K. D., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.174 · Cited by 183 · see citing works

Analysis of Intellectual Disability Copy Number Variants for Association With Schizophrenia

Rees, E., Kendall, K., Pardiñas, A. F., Legge, S. E., Pocklington, A., Escott-Price, V., MacCabe, J. H., Collier, D. A., Holmans, P., O’Donovan, M. C., et al. (2016) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2016.1831 · Cited by 162 · see citing works

Association Between Early-Onset Parkinson Disease and 22q11.2 Deletion Syndrome

Butcher, N. J., Kiehl, T., Hazrati, L., Chow, E. W. C., Rogaeva, E. A., Lang, A. E., & Bassett, A. S. (2013) · JAMA Neurology · doi:10.1001/jamaneurol.2013.3646 · Cited by 159 · see citing works

Chromosome 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 · see citing works

Reciprocal effects on neurocognitive and metabolic phenotypes in mouse models of 16p11.2 deletion and duplication syndromes

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 · see citing works

Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a coronin-1A mutation and a chromosome 16p11.2 deletion

Shiow, L. R., Paris, K., Akana, M., Cyster, J. G., Sorensen, R. U., & Puck, J. M. (2008) · Clinical Immunology · doi:10.1016/j.clim.2008.11.002 · Cited by 147 · see citing works

Copy number variation in obsessive-compulsive disorder and tourette syndrome: A cross-disorder study

McGrath, L. M., Yu, D., Marshall, C., Davis, L. K., Thiruvahindrapuram, B., Li, B., Cappi, C., Gerber, G., Wolf, A., Schroeder, F. A., et al. (2014) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2014.04.022 · Cited by 141 · see citing works

The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions

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 · see citing works

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays

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

High-resolution copy number variation analysis of schizophrenia in Japan

Kushima, I., Aleksić, B., Nakatochi, M., Shimamura, T., Shiino, T., Yoshimi, A., Kimura, H., Takasaki, Y., Wang, C., Xing, J., et al. (2016) · Molecular Psychiatry · doi:10.1038/mp.2016.88 · Cited by 132 · see citing works

Tourette syndrome is associated with recurrent exonic copy number variants

Sundaram, S. K., Huq, A. M., Wilson, B. J., & Chugani, H. T. (2010) · Neurology · doi:10.1212/wnl.0b013e3181e0f147 · Cited by 125 · see citing works

Biological Overlap of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder: Evidence From Copy Number Variants

Martin, J., Cooper, M., Hamshere, M., Pocklington, A., Scherer, S., Kent, L., Gill, M., Owen, M., Williams, N., O'Donovan, M., et al. (2014) · Journal of the American Academy of Child and Adolescent Psychiatry · doi:10.1016/j.jaac.2014.03.004 · Cited by 124 · see citing works

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 · see citing works

Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems

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., et al. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3182217a06 · Cited by 115 · see citing works

Novel features of 3q29 deletion syndrome: Results from the 3q29 registry

Glassford, M. R., Rosenfeld, J. A., Freedman, A. A., Zwick, M. E., Unique Rare Chromosome Disorder Support Group, & Mulle, J. G. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37537 · Cited by 109 · see citing works

Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders

Isles, A. R., Ingason, A., Lowther, C., Walters, J., Gawlik, M., Stöber, G., Rees, E., Martin, J., Little, R. B., Potter, H. G., et al. (2016) · PLoS Genetics · doi:10.1371/journal.pgen.1005993 · Cited by 99 · see citing works

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome

Bassett, A. S., Lowther, C., Merico, D., Costain, G., Chow, E. W. C., van Amelsvoort, T., McDonald‐McGinn, D. M., Gur, R. E., Swillen, A., van den Bree, M. B. M., et al. (2017) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2017.16121417 · Cited by 98 · see citing works

Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development

Meechan, D. W., Maynard, T. M., Tucker, E. S., Fernandez, A., Karpinski, B. A., Rothblat, L. A., & LaMantia, A. (2015) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2015.03.004 · Cited by 97 · see citing works

Update on the 22q11.2 deletion syndrome and its relevance to schizophrenia

Van, L., Boot, E., & Bassett, A. S. (2017) · Current Opinion in Psychiatry · doi:10.1097/yco.0000000000000324 · Cited by 95 · see citing works

Genome-wide analysis of rare copy number variations reveals PARK2 as a candidate gene for attention-deficit/hyperactivity disorder

Jarick, I., Volckmar, A.-L., Pütter, C., Pechlivanis, S., Nguyen, T. T., Dauvermann, M., Beck, S., Albayrak, Ö., Scherag, S., Gilsbach, S., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2012.161 · Cited by 92 · see citing works

Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data

Mok, K. Y., Sheerin, U., Simón‐Sánchez, J., Salaka, A. S., Chester, L. A., Escott‐Price, V., Mantripragada, K. K., Doherty, K. A., Noyce, A. J., Mencacci, N. E., et al. (2016) · The Lancet Neurology · doi:10.1016/s1474-4422(16)00071-5 · Cited by 91 · see citing works

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

Lowther, C., Speevak, M. D., Armour, C. M., Goh, E. S., Graham, G. E., Li, C. C., Zeesman, S., Nowaczyk, M. J. M., Schultz, L., Morra, A., et al. (2016) · Genetics in Medicine · doi:10.1038/gim.2016.54 · Cited by 91 · see citing works

Premature death in adults with 22q11.2 deletion syndrome

Bassett, A. S., Chow, E. W. C., Husted, J., Hodgkinson, K. A., Oechslin, E. N., Harris, L., & Silversides, C. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.063800 · Cited by 90 · 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

De novo CNVs in bipolar affective disorder and schizophrenia

Georgieva, L., Rees, E., Moran, J. L., Chambert, K. D., Milanova, V. K., Craddock, N. J., Purcell, S., Sklar, P. B., McCarroll, S. A., Holmans, P., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu379 · Cited by 87 · see citing works

Obesity in adults with 22q11.2 deletion syndrome

Voll, S. L., Boot, E., Butcher, N. J., Cooper, S., Heung, T., Chow, E. W. C., Silversides, C. K., & Bassett, A. S. (2016) · Genetics in Medicine · doi:10.1038/gim.2016.98 · Cited by 86 · see citing works

CNV Analysis in Tourette Syndrome Implicates Large Genomic Rearrangements in COL8A1 and NRXN1

Nag, A., Bochukova, E. G., Kremeyer, B., Campbell, D., Müller, H., Valencia, A., Cardona, J. C., Rivas, I. C., Restrepo, S. C. M., Arias, J. M. C., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0059061 · Cited by 85 · see citing works

Genome-wide survey implicates the influence of copy number variants (CNVs) in the development of early-onset bipolar disorder

Priebe, L., Degenhardt, F. A., Herms, S., Haenisch, B., Mattheisen, M., Nieratschker, V, Weingarten, M., Witt, S., Breuer, R., Paul, T., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2011.8 · Cited by 84 · see citing works

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 · see citing works

Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes

Noor, A., Lionel, A. C., Cohen‐Woods, S., Moghimi, N., Rucker, J., Fennell, A., Thiruvahindrapuram, B., Kaufman, L., Degagne, B., Wei, J., et al. (2014) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32232 · Cited by 81 · see citing works

Anxiety Disorders in Williams Syndrome Contrasted with Intellectual Disability and the General Population: A Systematic Review and Meta-Analysis

Royston, R., Howlin, P., Waite, J., & Oliver, C. (2016) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-016-2909-z · Cited by 80 · see citing works

Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation

Gazzellone, M. J., Zarrei, M., Burton, C. L., Walker, S., Uddin, M., Shaheen, S. M., Coste, J., Rajendram, R., Schachter, R. J., Colasanto, M., et al. (2016) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-016-9170-9 · Cited by 77 · see citing works

Reversal of dendritic phenotypes in 16p11.2 microduplication mouse model neurons by pharmacological targeting of a network hub

Blizinsky, K. D., Diaz-Castro, B., Forrest, M. P., Schürmann, B., Bach, A. P., Martin-de-Saavedra, M. D., Wang, L., Csernansky, J. G., Duan, J., & Penzes, P. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1607014113 · Cited by 76 · see citing works

Response to clozapine in a clinically identifiable subtype of schizophrenia

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Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era

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