TY - JOUR AU - Redon, R. AU - Ishikawa, S. AU - Fitch, K. R. AU - Feuk, L. AU - Perry, G. H. AU - Andrews, T. D. PY - 2006 DA - 2006// TI - Global variation in copy number in the human genome JO - Nature. VL - 444 UR - https://doi.org/10.1038/nature05329 DO - 10.1038/nature05329 ID - Redon2006 ER - TY - JOUR AU - Glessner, J. T. AU - Wang, K. AU - Cai, G. AU - Korvatska, O. AU - Kim, C. E. AU - Wood, S. PY - 2009 DA - 2009// TI - Autism genome-wide copy number variation reveals ubiquitin and neuronal genes JO - Nature VL - 459 UR - https://doi.org/10.1038/nature07953 DO - 10.1038/nature07953 ID - Glessner2009 ER - TY - JOUR AU - Cooper, G. M. AU - Coe, B. P. AU - Girirajan, S. AU - Rosenfeld, J. A. AU - Vu, T. H. AU - Baker, C. PY - 2011 DA - 2011// TI - A copy number variation morbidity map of developmental delay JO - Nat Genet VL - 43 UR - https://doi.org/10.1038/ng.909 DO - 10.1038/ng.909 ID - Cooper2011 ER - TY - JOUR AU - Falchi, M. AU - El-Sayed Moustafa, J. S. AU - Takousis, P. AU - Pesce, F. AU - Bonnefond, A. AU - Andersson-Assarsson, J. C. PY - 2014 DA - 2014// TI - Low copy number of the salivary amylase gene predisposes to obesity JO - Nat Genet VL - 46 UR - https://doi.org/10.1038/ng.2939 DO - 10.1038/ng.2939 ID - Falchi2014 ER - TY - JOUR AU - Sudmant, P. H. AU - Mallick, S. AU - Nelson, B. J. AU - Hormozdiari, F. AU - Krumm, N. AU - Huddleston, J. PY - 2015 DA - 2015// TI - Global diversity, population stratification, and selection of human copy-number variation JO - Science VL - 349 UR - https://doi.org/10.1126/science.aab3761 DO - 10.1126/science.aab3761 ID - Sudmant2015 ER - TY - JOUR AU - Handsaker, R. E. AU - Doren, V. AU - Berman, J. R. AU - Genovese, G. AU - Kashin, S. AU - Boettger, L. M. PY - 2015 DA - 2015// TI - Large multiallelic copy number variations in humans JO - Nat Genet VL - 47 UR - https://doi.org/10.1038/ng.3200 DO - 10.1038/ng.3200 ID - Handsaker2015 ER - TY - JOUR AU - Zarrei, M. AU - MacDonald, J. R. AU - Merico, D. AU - Scherer, S. W. PY - 2015 DA - 2015// TI - A copy number variation map of the human genome JO - Nat Rev Genet VL - 16 UR - https://doi.org/10.1038/nrg3871 DO - 10.1038/nrg3871 ID - Zarrei2015 ER - TY - JOUR AU - Ruderfer, D. M. AU - Hamamsy, T. AU - Lek, M. AU - Karczewski, K. J. AU - Kavanagh, D. AU - Samocha, K. E. PY - 2016 DA - 2016// TI - Patterns of genic intolerance of rare copy number variation in 59,898 human exomes JO - Nat Genet VL - 48 UR - https://doi.org/10.1038/ng.3638 DO - 10.1038/ng.3638 ID - Ruderfer2016 ER - TY - JOUR AU - Richards, S. AU - Aziz, N. AU - Bale, S. AU - Bick, D. AU - Das, S. AU - Gastier-Foster, J. PY - 2015 DA - 2015// TI - Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology JO - Genet Med VL - 17 UR - https://doi.org/10.1038/gim.2015.30 DO - 10.1038/gim.2015.30 ID - Richards2015 ER - TY - JOUR AU - Sudlow, C. AU - Gallacher, J. AU - Allen, N. AU - Beral, V. AU - Burton, P. AU - Danesh, J. PY - 2015 DA - 2015// TI - UK biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age JO - PLoS Med VL - 12 UR - https://doi.org/10.1371/journal.pmed.1001779 DO - 10.1371/journal.pmed.1001779 ID - Sudlow2015 ER - TY - JOUR AU - Yamaguchi-Kabata, Y. AU - Nariai, N. AU - Kawai, Y. AU - Sato, Y. AU - Kojima, K. AU - Tateno, M. PY - 2015 DA - 2015// TI - iJGVD: an integrative Japanese genome variation database based on whole-genome sequencing JO - Hum Genome Var VL - 2 UR - https://doi.org/10.1038/hgv.2015.50 DO - 10.1038/hgv.2015.50 ID - Yamaguchi-Kabata2015 ER - TY - JOUR AU - Lek, M. AU - Karczewski, K. J. AU - Minikel, E. V. AU - Samocha, K. E. AU - Banks, E. AU - Fennell, T. PY - 2016 DA - 2016// TI - Analysis of protein-coding genetic variation in 60,706 humans JO - Nature VL - 536 UR - https://doi.org/10.1038/nature19057 DO - 10.1038/nature19057 ID - Lek2016 ER - TY - JOUR AU - Terry, S. F. PY - 2014 DA - 2014// TI - The global alliance for genomics & health JO - Genet Test Mol Biomarkers VL - 18 UR - https://doi.org/10.1089/gtmb.2014.1555 DO - 10.1089/gtmb.2014.1555 ID - Terry2014 ER - TY - JOUR AU - Blakeslee, A. F. AU - Belling, J. AU - Farnham, M. E. PY - 1920 DA - 1920// TI - Chromosomal duplication and Mendelian phenomena in Datura mutants JO - Science VL - 52 UR - https://doi.org/10.1126/science.52.1347.388 DO - 10.1126/science.52.1347.388 ID - Blakeslee1920 ER - TY - JOUR AU - Bridges, C. B. PY - 1925 DA - 1925// TI - Sex in relation to chromosomes and genes JO - Am Nat VL - 59 UR - https://doi.org/10.1086/280023 DO - 10.1086/280023 ID - Bridges1925 ER - TY - JOUR AU - Papp, B. AU - Pal, C. AU - Hurst, L. D. PY - 2003 DA - 2003// TI - Dosage sensitivity and the evolution of gene families in yeast JO - Nature VL - 424 UR - https://doi.org/10.1038/nature01771 DO - 10.1038/nature01771 ID - Papp2003 ER - TY - JOUR AU - Makino, T. AU - McLysaght, A. AU - Kawata, M. PY - 2013 DA - 2013// TI - Genome-wide deserts for copy number variation in vertebrates JO - Nat Commun VL - 4 UR - https://doi.org/10.1038/ncomms3283 DO - 10.1038/ncomms3283 ID - Makino2013 ER - TY - BOOK AU - Ohno, S. PY - 1970 DA - 1970// TI - Evolution by gene duplication PB - Springer CY - Berlin UR - https://doi.org/10.1007/978-3-642-86659-3 DO - 10.1007/978-3-642-86659-3 ID - Ohno1970 ER - TY - JOUR AU - Makino, T. AU - McLysaght, A. PY - 2010 DA - 2010// TI - Ohnologs in the human genome are dosage balanced and frequently associated with disease JO - Proc Natl Acad Sci U S A VL - 107 UR - https://doi.org/10.1073/pnas.0914697107 DO - 10.1073/pnas.0914697107 ID - Makino2010 ER - TY - STD TI - Chen WH, Zhao XM, van Noort V, Bork P. Human monogenic disease genes have frequently functionally redundant paralogs. PLoS Comput Biol. 2013;9(5):e1003073. ID - ref20 ER - TY - STD TI - McLysaght A, Makino T, Grayton HM, Tropeano M, Mitchell KJ, Vassos E, et al. Ohnologs are overrepresented in pathogenic copy number mutations. Proc Natl Acad Sci U S A 2014;111(1):361–366. ID - ref21 ER - TY - STD TI - Singh PP, Affeldt S, Malaguti G, Isambert H. Human dominant disease genes are enriched in paralogs originating from whole genome duplication. PLoS Comput Biol. 2014;10(7):e1003754. ID - ref22 ER - TY - JOUR AU - Sekine, M. AU - Makino, T. PY - 2017 DA - 2017// TI - Inference of causative genes for Alzheimer's disease due to dosage imbalance JO - Mol Biol Evol VL - 34 UR - https://doi.org/10.1093/molbev/msx183 DO - 10.1093/molbev/msx183 ID - Sekine2017 ER - TY - JOUR AU - Consortium, G. T. PY - 2013 DA - 2013// TI - The genotype-tissue expression (GTEx) project JO - Nat Genet VL - 45 UR - https://doi.org/10.1038/ng.2653 DO - 10.1038/ng.2653 ID - Consortium2013 ER - TY - JOUR AU - Toyoda, H. AU - Miyagawa, T. AU - Koike, A. AU - Kanbayashi, T. AU - Imanishi, A. AU - Sagawa, Y. PY - 2015 DA - 2015// TI - A polymorphism in CCR1/CCR3 is associated with narcolepsy JO - Brain Behavior and Immunity VL - 49 UR - https://doi.org/10.1016/j.bbi.2015.05.003 DO - 10.1016/j.bbi.2015.05.003 ID - Toyoda2015 ER - TY - JOUR AU - Khor, S. S. AU - Miyagawa, T. AU - Toyoda, H. AU - Yamasaki, M. AU - Kawamura, Y. AU - Tanii, H. PY - 2013 DA - 2013// TI - Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia JO - PeerJ VL - 1 UR - https://doi.org/10.7717/peerj.66 DO - 10.7717/peerj.66 ID - Khor2013 ER - TY - JOUR AU - Otowa, T. AU - Kawamura, Y. AU - Nishida, N. AU - Sugaya, N. AU - Koike, A. AU - Yoshida, E. PY - 2012 DA - 2012// TI - Meta-analysis of genome-wide association studies for panic disorder in the Japanese population JO - Transl Psychiatry VL - 2 UR - https://doi.org/10.1038/tp.2012.89 DO - 10.1038/tp.2012.89 ID - Otowa2012 ER - TY - JOUR AU - Liu, X. AU - Kawamura, Y. AU - Shimada, T. AU - Otowa, T. AU - Koishi, S. AU - Sugiyama, T. PY - 2010 DA - 2010// TI - Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population JO - J Hum Genet VL - 55 UR - https://doi.org/10.1038/jhg.2009.140 DO - 10.1038/jhg.2009.140 ID - Liu2010 ER - TY - JOUR AU - Miyashita, A. AU - Wen, Y. N. AU - Kitamura, N. AU - Matsubara, E. AU - Kawarabayashi, T. AU - Shoji, M. PY - 2014 DA - 2014// TI - Lack of genetic association between TREM2 and late-onset Alzheimer's disease in a Japanese population JO - J Alzheimers Dis VL - 41 UR - https://doi.org/10.3233/JAD-140225 DO - 10.3233/JAD-140225 ID - Miyashita2014 ER - TY - JOUR PY - 2003 DA - 2003// TI - The international HapMap project JO - Nature VL - 426 UR - https://doi.org/10.1038/nature02168 DO - 10.1038/nature02168 ID - ref30 ER - TY - JOUR AU - Wang, K. AU - Li, M. AU - Hadley, D. AU - Liu, R. AU - Glessner, J. AU - Grant, S. F. PY - 2007 DA - 2007// TI - PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data JO - Genome Res VL - 17 UR - https://doi.org/10.1101/gr.6861907 DO - 10.1101/gr.6861907 ID - Wang2007 ER - TY - JOUR AU - Gai, X. AU - Perin, J. C. AU - Murphy, K. AU - O'Hara, R. AU - D'Arcy, M. AU - Wenocur, A. PY - 2010 DA - 2010// TI - CNV workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics JO - BMC Bioinformatics VL - 11 UR - https://doi.org/10.1186/1471-2105-11-74 DO - 10.1186/1471-2105-11-74 ID - Gai2010 ER - TY - JOUR AU - Zhang, X. AU - Du, R. AU - Li, S. AU - Zhang, F. AU - Jin, L. AU - Wang, H. PY - 2014 DA - 2014// TI - Evaluation of copy number variation detection for a SNP array platform JO - BMC Bioinformatics VL - 15 UR - https://doi.org/10.1186/1471-2105-15-50 DO - 10.1186/1471-2105-15-50 ID - Zhang2014 ER - TY - JOUR AU - Mace, A. AU - Tuke, M. A. AU - Beckmann, J. S. AU - Lin, L. AU - Jacquemont, S. AU - Weedon, M. N. PY - 2016 DA - 2016// TI - New quality measure for SNP array based CNV detection JO - Bioinformatics VL - 32 UR - https://doi.org/10.1093/bioinformatics/btw477 DO - 10.1093/bioinformatics/btw477 ID - Mace2016 ER - TY - JOUR AU - Singh, P. P. AU - Arora, J. AU - Isambert, H. PY - 2015 DA - 2015// TI - Identification of Ohnolog genes originating from whole genome duplication in early vertebrates, based on Synteny comparison across multiple genomes JO - PLoS Comput Biol VL - 11 UR - https://doi.org/10.1371/journal.pcbi.1004394 DO - 10.1371/journal.pcbi.1004394 ID - Singh2015 ER - TY - JOUR AU - Itsara, A. AU - Cooper, G. M. AU - Baker, C. AU - Girirajan, S. AU - Li, J. AU - Absher, D. PY - 2009 DA - 2009// TI - Population analysis of large copy number variants and hotspots of human genetic disease JO - Am J Hum Genet VL - 84 UR - https://doi.org/10.1016/j.ajhg.2008.12.014 DO - 10.1016/j.ajhg.2008.12.014 ID - Itsara2009 ER - TY - JOUR AU - Basu, S. N. AU - Kollu, R. AU - Banerjee-Basu, S. PY - 2009 DA - 2009// TI - AutDB: a gene reference resource for autism research JO - Nucleic Acids Res VL - 37 UR - https://doi.org/10.1093/nar/gkn835 DO - 10.1093/nar/gkn835 ID - Basu2009 ER - TY - JOUR AU - Howe, A. S. AU - Buttenschon, H. N. AU - Bani-Fatemi, A. AU - Maron, E. AU - Otowa, T. AU - Erhardt, A. PY - 2016 DA - 2016// TI - Candidate genes in panic disorder: meta-analyses of 23 common variants in major anxiogenic pathways JO - Mol Psychiatry VL - 21 UR - https://doi.org/10.1038/mp.2015.138 DO - 10.1038/mp.2015.138 ID - Howe2016 ER - TY - JOUR AU - Lane, J. M. AU - Liang, J. J. AU - Vlasac, I. AU - Anderson, S. G. AU - Bechtold, D. A. AU - Bowden, J. PY - 2017 DA - 2017// TI - Genome-wide association analyses of sleep disturbance traits identify new loci and highlight shared genetics with neuropsychiatric and metabolic traits JO - Nat Genet VL - 49 UR - https://doi.org/10.1038/ng.3749 DO - 10.1038/ng.3749 ID - Lane2017 ER - TY - STD TI - Ripke S, Neale BM, Corvin A, Walters JTR, Farh KH, Holmans PA, et al. Biological insights from 108 schizophrenia-associated genetic loci. 2014;511(7510):Nature, 421–427. ID - ref40 ER - TY - JOUR AU - Cauwenberghe, C. AU - Broeckhoven, C. AU - Sleegers, K. PY - 2016 DA - 2016// TI - The genetic landscape of Alzheimer disease: clinical implications and perspectives JO - Genetics in Medicine VL - 18 UR - https://doi.org/10.1038/gim.2015.117 DO - 10.1038/gim.2015.117 ID - Cauwenberghe2016 ER - TY - JOUR AU - Gonzalez, E. AU - Kulkarni, H. AU - Bolivar, H. AU - Mangano, A. AU - Sanchez, R. AU - Catano, G. PY - 2005 DA - 2005// TI - The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility JO - Science VL - 307 UR - https://doi.org/10.1126/science.1101160 DO - 10.1126/science.1101160 ID - Gonzalez2005 ER - TY - JOUR AU - McKinney, C. AU - Merriman, M. E. AU - Chapman, P. T. AU - Gow, P. J. AU - Harrison, A. A. AU - Highton, J. PY - 2008 DA - 2008// TI - Evidence for an influence of chemokine ligand 3-like 1 (CCL3L1) gene copy number on susceptibility to rheumatoid arthritis JO - Ann Rheum Dis VL - 67 UR - https://doi.org/10.1136/ard.2007.075028 DO - 10.1136/ard.2007.075028 ID - McKinney2008 ER - TY - JOUR AU - Fellermann, K. AU - Stange, D. E. AU - Schaeffeler, E. AU - Schmalzl, H. AU - Wehkamp, J. AU - Bevins, C. L. PY - 2006 DA - 2006// TI - A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon JO - Am J Hum Genet VL - 79 UR - https://doi.org/10.1086/505915 DO - 10.1086/505915 ID - Fellermann2006 ER - TY - JOUR AU - Hollox, E. J. AU - Huffmeier, U. AU - Zeeuwen, P. L. J. M. AU - Palla, R. AU - Lascorz, J. AU - Rodijk-Olthuis, D. PY - 2008 DA - 2008// TI - Psoriasis is associated with increased beta-defensin genomic copy number JO - Nat Genet VL - 40 UR - https://doi.org/10.1038/ng.2007.48 DO - 10.1038/ng.2007.48 ID - Hollox2008 ER - TY - JOUR AU - Henrichsen, C. N. AU - Vinckenbosch, N. AU - Zollner, S. AU - Chaignat, E. AU - Pradervand, S. AU - Schutz, F. PY - 2009 DA - 2009// TI - Segmental copy number variation shapes tissue transcriptomes JO - Nat Genet VL - 41 UR - https://doi.org/10.1038/ng.345 DO - 10.1038/ng.345 ID - Henrichsen2009 ER - TY - JOUR AU - Juji, T. AU - Satake, M. AU - Honda, Y. AU - Doi, Y. PY - 1984 DA - 1984// TI - HLA antigens in Japanese patients with narcolepsy. All the patients were DR2 positive JO - Tissue Antigens VL - 24 UR - https://doi.org/10.1111/j.1399-0039.1984.tb02144.x DO - 10.1111/j.1399-0039.1984.tb02144.x ID - Juji1984 ER - TY - JOUR AU - Langdon, N. AU - Welsh, K. I. AU - Dam, M. AU - Vaughan, R. W. AU - Parkes, D. PY - 1984 DA - 1984// TI - Genetic markers in narcolepsy JO - Lancet VL - 2 UR - https://doi.org/10.1016/S0140-6736(84)92742-9 DO - 10.1016/S0140-6736(84)92742-9 ID - Langdon1984 ER - TY - JOUR AU - Matsuki, K. AU - Juji, T. AU - Tokunaga, K. AU - Naohara, T. AU - Satake, M. AU - Honda, Y. PY - 1985 DA - 1985// TI - Human histocompatibility leukocyte antigen (HLA) haplotype frequencies estimated from the data on HLA class I, II, and III antigens in 111 Japanese narcoleptics JO - J Clin Invest VL - 76 UR - https://doi.org/10.1172/JCI112211 DO - 10.1172/JCI112211 ID - Matsuki1985 ER - TY - JOUR AU - Miyagawa, T. AU - Hohjoh, H. AU - Honda, Y. AU - Juji, T. AU - Tokunaga, K. PY - 2000 DA - 2000// TI - Identification of a telomeric boundary of the HLA region with potential for predisposition to human narcolepsy JO - Immunogenetics VL - 52 UR - https://doi.org/10.1007/s002510000245 DO - 10.1007/s002510000245 ID - Miyagawa2000 ER - TY - JOUR AU - Yamasaki, M. AU - Miyagawa, T. AU - Toyoda, H. AU - Khor, S. S. AU - Liu, X. AU - Kuwabara, H. PY - 2016 DA - 2016// TI - Evaluation of polygenic risks for narcolepsy and essential hypersomnia JO - J Hum Genet VL - 61 UR - https://doi.org/10.1038/jhg.2016.65 DO - 10.1038/jhg.2016.65 ID - Yamasaki2016 ER - TY - JOUR AU - Hallmayer, J. AU - Faraco, J. AU - Lin, L. AU - Hesselson, S. AU - Winkelmann, J. AU - Kawashima, M. PY - 2009 DA - 2009// TI - Narcolepsy is strongly associated with the T-cell receptor alpha locus JO - Nat Genet VL - 41 UR - https://doi.org/10.1038/ng.372 DO - 10.1038/ng.372 ID - Hallmayer2009 ER - TY - JOUR AU - Kornum, B. R. AU - Kawashima, M. AU - Faraco, J. AU - Lin, L. AU - Rico, T. J. AU - Hesselson, S. PY - 2011 DA - 2011// TI - Common variants in P2RY11 are associated with narcolepsy (vol 43, pg 66, 2011) JO - Nat Genet VL - 43 UR - https://doi.org/10.1038/ng1011-1040b DO - 10.1038/ng1011-1040b ID - Kornum2011 ER - TY - JOUR AU - Yamasaki, M. AU - Miyagawa, T. AU - Toyoda, H. AU - Khor, S. S. AU - Koike, A. AU - Nitta, A. PY - 2014 DA - 2014// TI - Genome-wide analysis of CNV (copy number variation) and their associations with narcolepsy in a Japanese population JO - J Hum Genet VL - 59 UR - https://doi.org/10.1038/jhg.2014.13 DO - 10.1038/jhg.2014.13 ID - Yamasaki2014 ER - TY - JOUR AU - Mignot, E. AU - Lammers, G. J. AU - Ripley, B. AU - Okun, M. AU - Nevsimalova, S. AU - Overeem, S. PY - 2002 DA - 2002// TI - The role of cerebrospinal fluid hypocretin measurement in the diagnosis of narcolepsy and other hypersomnias JO - Arch Neurol-Chicago VL - 59 UR - https://doi.org/10.1001/archneur.59.10.1553 DO - 10.1001/archneur.59.10.1553 ID - Mignot2002 ER - TY - JOUR AU - Nishino, S. AU - Ripley, B. AU - Overeem, S. AU - Lammers, G. J. AU - Mignot, E. PY - 2000 DA - 2000// TI - Hypocretin (orexin) deficiency in human narcolepsy JO - Lancet VL - 355 UR - https://doi.org/10.1016/S0140-6736(99)05582-8 DO - 10.1016/S0140-6736(99)05582-8 ID - Nishino2000 ER - TY - JOUR AU - Gamazon, E. R. AU - Stranger, B. E. PY - 2015 DA - 2015// TI - The impact of human copy number variation on gene expression JO - Brief Funct Genomics VL - 14 UR - https://doi.org/10.1093/bfgp/elv017 DO - 10.1093/bfgp/elv017 ID - Gamazon2015 ER - TY - JOUR AU - Stranger, B. E. AU - Forrest, M. S. AU - Dunning, M. AU - Ingle, C. E. AU - Beazley, C. AU - Thorne, N. PY - 2007 DA - 2007// TI - Relative impact of nucleotide and copy number variation on gene expression phenotypes JO - Science VL - 315 UR - https://doi.org/10.1126/science.1136678 DO - 10.1126/science.1136678 ID - Stranger2007 ER - TY - JOUR AU - Fehrmann, R. S. AU - Karjalainen, J. M. AU - Krajewska, M. AU - Westra, H. J. AU - Maloney, D. AU - Simeonov, A. PY - 2015 DA - 2015// TI - Gene expression analysis identifies global gene dosage sensitivity in cancer JO - Nat Genet VL - 47 UR - https://doi.org/10.1038/ng.3173 DO - 10.1038/ng.3173 ID - Fehrmann2015 ER - TY - JOUR AU - Mehta, D. AU - Iwamoto, K. AU - Ueda, J. AU - Bundo, M. AU - Adati, N. AU - Kojima, T. PY - 2014 DA - 2014// TI - Comprehensive survey of CNVs influencing gene expression in the human brain and its implications for pathophysiology JO - Neurosci Res VL - 79 UR - https://doi.org/10.1016/j.neures.2013.10.009 DO - 10.1016/j.neures.2013.10.009 ID - Mehta2014 ER - TY - JOUR AU - Ye, T. AU - Lipska, B. K. AU - Tao, R. AU - Hyde, T. M. AU - Wang, L. AU - Li, C. PY - 2012 DA - 2012// TI - Analysis of copy number variations in brain DNA from patients with schizophrenia and other psychiatric disorders JO - Biol Psychiatry VL - 72 UR - https://doi.org/10.1016/j.biopsych.2012.06.014 DO - 10.1016/j.biopsych.2012.06.014 ID - Ye2012 ER - TY - JOUR AU - Lachmann, A. AU - Torre, D. AU - Keenan, A. B. AU - Jagodnik, K. M. AU - Lee, H. J. AU - Wang, L. PY - 2018 DA - 2018// TI - Massive mining of publicly available RNA-seq data from human and mouse JO - Nat Commun VL - 9 UR - https://doi.org/10.1038/s41467-018-03751-6 DO - 10.1038/s41467-018-03751-6 ID - Lachmann2018 ER - TY - JOUR AU - Chen, J. AU - Wu, W. AU - Fu, Y. AU - Yu, S. AU - Cui, D. AU - Zhao, M. PY - 2016 DA - 2016// TI - Increased expression of fatty acid synthase and acetyl-CoA carboxylase in the prefrontal cortex and cerebellum in the valproic acid model of autism JO - Exp Ther Med VL - 12 UR - https://doi.org/10.3892/etm.2016.3508 DO - 10.3892/etm.2016.3508 ID - Chen2016 ER - TY - JOUR AU - Astarita, G. AU - Jung, K. M. AU - Berchtold, N. C. AU - Nguyen, V. Q. AU - Gillen, D. L. AU - Head, E. PY - 2010 DA - 2010// TI - Deficient liver biosynthesis of docosahexaenoic acid correlates with cognitive impairment in Alzheimer's disease JO - PLoS One VL - 5 UR - https://doi.org/10.1371/journal.pone.0012538 DO - 10.1371/journal.pone.0012538 ID - Astarita2010 ER - TY - STD TI - Loke YJ, Hannan AJ, Craig JM. The role of epigenetic change in autism spectrum disorders. Front Neurol. 2015;6. ID - ref65 ER - TY - JOUR AU - Malishkevich, A. AU - Amram, N. AU - Hacohen-Kleiman, G. AU - Magen, I. AU - Giladi, E. AU - Gozes, I. PY - 2015 DA - 2015// TI - Activity-dependent neuroprotective protein (ADNP) exhibits striking sexual dichotomy impacting on autistic and Alzheimer's pathologies JO - Transl Psychiatry VL - 5 UR - https://doi.org/10.1038/tp.2014.138 DO - 10.1038/tp.2014.138 ID - Malishkevich2015 ER - TY - JOUR AU - Takamori, S. AU - Rhee, J. S. AU - Rosenmund, C. AU - Jahn, R. PY - 2000 DA - 2000// TI - Identification of a vesicular glutamate transporter that defines a glutamatergic phenotype in neurons JO - Nature VL - 407 UR - https://doi.org/10.1038/35025070 DO - 10.1038/35025070 ID - Takamori2000 ER - TY - JOUR AU - Zwanzger, P. AU - Zavorotnyy, M. AU - Gencheva, E. AU - Diemer, J. AU - Kugel, H. AU - Heindel, W. PY - 2013 DA - 2013// TI - Acute shift in glutamate concentrations following experimentally induced panic with cholecystokinin Tetrapeptide-a 3T-MRS study in healthy subjects JO - Neuropsychopharmacol. VL - 38 UR - https://doi.org/10.1038/npp.2013.61 DO - 10.1038/npp.2013.61 ID - Zwanzger2013 ER - TY - JOUR AU - Xie, P. X. AU - Kranzler, H. R. AU - Yang, C. AU - Zhao, H. Y. AU - Farrer, L. A. AU - Gelernter, J. PY - 2013 DA - 2013// TI - Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder JO - Biol Psychiatry VL - 74 UR - https://doi.org/10.1016/j.biopsych.2013.04.013 DO - 10.1016/j.biopsych.2013.04.013 ID - Xie2013 ER - TY - JOUR AU - Feng, T. AU - Zhu, X. F. PY - 2010 DA - 2010// TI - Genome-wide searching of rare genetic variants in WTCCC data JO - Hum Genet VL - 128 UR - https://doi.org/10.1007/s00439-010-0849-9 DO - 10.1007/s00439-010-0849-9 ID - Feng2010 ER - TY - JOUR AU - Bousman, C. A. AU - Chana, G. AU - Glatt, S. J. AU - Chandler, S. D. AU - May, T. AU - Lohr, J. PY - 2010 DA - 2010// TI - Positive Symptoms of Psychosis Correlate With Expression of Ubiquitin Proteasome Genes in Peripheral Blood JO - Am J Med Genet B VL - 153b UR - https://doi.org/10.1002/ajmg.b.31106 DO - 10.1002/ajmg.b.31106 ID - Bousman2010 ER - TY - JOUR AU - Rovelet-Lecrux, A. AU - Hannequin, D. AU - Raux, G. AU - Meur, N. AU - Laquerriere, A. AU - Vital, A. PY - 2006 DA - 2006// TI - APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy JO - Nat Genet VL - 38 UR - https://doi.org/10.1038/ng1718 DO - 10.1038/ng1718 ID - Rovelet-Lecrux2006 ER - TY - JOUR AU - Sleegers, K. AU - Brouwers, N. AU - Gijselinck, I. AU - Theuns, J. AU - Goossens, D. AU - Wauters, J. PY - 2006 DA - 2006// TI - APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy JO - Brain VL - 129 UR - https://doi.org/10.1093/brain/awl203 DO - 10.1093/brain/awl203 ID - Sleegers2006 ER - TY - JOUR AU - McNaughton, D. AU - Knight, W. AU - Guerreiro, R. AU - Ryan, N. AU - Lowe, J. AU - Poulter, M. PY - 2012 DA - 2012// TI - Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series JO - Neurobiol Aging VL - 33 UR - https://doi.org/10.1016/j.neurobiolaging.2010.10.010 DO - 10.1016/j.neurobiolaging.2010.10.010 ID - McNaughton2012 ER - TY - JOUR AU - Nuttle, X. AU - Giannuzzi, G. AU - Duyzend, M. H. AU - Schraiber, J. G. AU - Narvaiza, I. AU - Sudmant, P. H. PY - 2016 DA - 2016// TI - Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility JO - Nature VL - 536 UR - https://doi.org/10.1038/nature19075 DO - 10.1038/nature19075 ID - Nuttle2016 ER -