SEARCH

SEARCH BY CITATION

References

  • Austin CP, Battey JF, Bradley A, Bucan M, Capecchi M, Collins FS, Dove WF, Duyk G, Dymecki S, Eppig JT, Grieder FB, Heintz N, and others. 2004. The knockout mouse project. Nat Genet 36:921924.
  • Benjamini YH, Y. 1995. Controlling the false discovery rate: a practical and powerful approach to multiple testing. J R Stat Soc 57:289300.
  • Bister D, Set P, Cash C, Coleman N, Fanshawe T. 2011. Incidence of facial clefts in Cambridge, United Kingdom. Eur J Orthod 33:372376.
  • Bult CJ, Eppig JT, Kadin JA, Richardson JE, Blake JA. 2008. The Mouse Genome Database (MGD): mouse biology and model systems. Nucleic Acids Res 36:D724D728.
  • Chadman KK, Yang M, Crawley JN. 2009. Criteria for validating mouse models of psychiatric diseases. Am J Med Genet B Neuropsychiatr Genet 150B:111.
  • Chelly J, Khelfaoui M, Francis F, Cherif B, Bienvenu T. 2006. Genetics and pathophysiology of mental retardation. Eur J Hum Genet 14:701713.
  • Cooper G, Nickerson D, Eichler E. 2007. Mutational and selective effects on copy-number variants in the human genome. Nat Genet 39:S22S29.
  • Delorey TM, Sahbaie P, Hashemi E, Li WW, Salehi A, Clark DJ. 2011. Somatosensory and sensorimotor consequences associated with the heterozygous disruption of the autism candidate gene, Gabrb3. Behav Brain Res 216:3645.
  • Elsea SH, Girirajan S. 2008. Smith–Magenis syndrome. Eur J Hum Genet 16:412421.
  • Eppig JT, Blake JA, Bult CJ, Richardson JE, Kadin JA, Ringwald M; MGI staff. 2007. Mouse genome informatics (MGI) resources for pathology and toxicology. Toxicol Pathol 35:456457.
  • Feenstra I, Fang J, Koolen DA, Siezen A, Evans C, Winter RM, Lees MM, Riegel M, de Vries BB, Van Ravenswaaij CM, Schinzel A. 2006. European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities. Eur J Med Genet 49:279291.
  • Firth H, Richards S, Bevan A, Clayton S, Corpas M, Rajan D, Van Vooren S, Moreau Y, Pettett R, Carter N. 2009. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. Am J Hum Genet 84:524533.
  • Flicek P, Aken BL, Ballester B, Beal K, Bragin E, Brent S, Chen Y, Clapham P, Coates G, Fairley S, Fitzgerald S, Fernandez-Banet J, and others. 2010. Ensembl's 10th year. Nucleic Acids Res 38:D557D562.
  • Fryns JP, de Ravel T. 2002. London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM [version 3] 2001R. M. Winter, M. Baraitser, Oxford University Press, ISBN 019851-780, pound sterling 1595. Hum Genet 111:113.
  • Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA. 2005. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res 33:D514D517.
  • Harris M, Clark J, Ireland A, Lomax J, Ashburner M, Foulger R, Eilbeck K, Lewis S, Marshall B, Mungall C, Richter J, Rubin GM, and others. 2004. The Gene Ontology (GO) database and informatics resource. Nucleic Acids Res 32:D258D261.
  • Hehir-Kwa JY, Wieskamp N, Webber C, Pfundt R, Brunner HG, Gilissen C, de Vries BB, Ponting CP, Veltman JA. 2010. Accurate distinction of pathogenic from benign CNVs in mental retardation. PLoS Comput Biol 6:e1000752.
  • Hoffman JI, Kaplan S. 2002. The incidence of congenital heart disease. J Am Coll Cardiol 39:18901900.
  • Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND and others. 2011. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature 478:97102.
  • Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, and others. 2011. An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med 13:777784.
  • Kanehisa M, Araki M, Goto S, Hattori M, Hirakawa M, Itoh M, Katayama T, Kawashima S, Okuda S, Tokimatsu T, Yamanishi Y. 2008. KEGG for linking genomes to life and the environment. Nucleic Acids Res 36:D480D484.
  • Kogan MD, Blumberg SJ, Schieve LA, Boyle CA, Perrin JM, Ghandour RM, Singh GK, Strickland BB, Trevathan E, van Dyck PC. 2009. Prevalence of parent-reported diagnosis of autism spectrum disorder among children in the US, 2007. Pediatrics 124:1395403.
  • Kumari V, Antonova E, Geyer MA. 2008. Prepulse inhibition and “psychosis-proneness” in healthy individuals: an fMRI study. Eur Psychiatry 23:274280.
  • Lu X, Shaw CA, Patel A, Li J, Cooper ML, Wells WR, Sullivan CM, Sahoo T, Yatsenko SA, Bacino CA, Stankiewicz P, Ou Z, and others. 2007. Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One 2:e327.
  • McKusick VA. 1998. Mendelian inheritance in man. A catalog of human genes and genetic disorders. Baltimore MD, Johns Hopkins University Press.
  • Nestler EJ, Hyman SE. 2010. Animal models of neuropsychiatric disorders. Nat Neurosci 13:11611169.
  • Nguyen DQ, Webber C, Hehir-Kwa JY, Pfundt R, Veltman JA, Ponting CP. 2008. Reduced purifying, not positive, selection explains genomic bias amongst copy number variation. Genome Res 18:17111723.
  • Raychaudhuri S, Korn JM, McCarroll SA, Altshuler D, Sklar P, Purcell S, Daly MJ. 2010. Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function. PLoS Genet 6:e1001097.
  • Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, and others. 2006. Global variation in copy number in the human genome. Nature 444:444454.
  • Shaikh TH, Haldeman-Englert C, Geiger EA, Ponting CP, Webber C. 2011. Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes. Hum Mol Genet 20:880893.
  • Silverman JL, Yang M, Lord C, Crawley JN. 2010. Behavioural phenotyping assays for mouse models of autism. Nat Rev Neurosci 11:490502.
  • Smith CL, Eppig JT. 2009. The mammalian phenotype ontology: enabling robust annotation and comparative analysis. Wiley Interdiscip Rev Syst Biol Med 1:390399.
  • Stankiewicz P, Beaudet AL. 2007. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev 17:182192.
  • van Binsbergen E. 2011. Origins and breakpoint analyses of copy number variations: up close and personal. Cytogenet Genome Res 135:271276.
  • van Karnebeek CD, Jansweijer MC, Leenders AG, Offringa M, Hennekam RC. 2005. Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness. Eur J Hum Genet 13:625.
  • Vermeesch JR, Balikova I, Schrander-Stumpel C, Fryns JP, Devriendt K. 2011. The causality of de novo copy number variants is overestimated. Eur J Hum Genet 19:11121113.
  • Webber C. 2011. Functional enrichment analysis with structural variants: pitfalls and strategies. Cytogenet Genome Res 135:277285.
  • Webber C, Hehir-Kwa JY, Nguyen DQ, de Vries BB, Veltman JA, Ponting CP. 2009. Forging links between human mental retardation-associated CNVs and mouse gene knockout models. PLoS Genet 5:e1000531.
  • Yalyn O, Arman F, Erdogan F, Kula M. 2006. A comparison of the circadian rhythms and the levels of melatonin in patients with diurnal and nocturnal complex partial seizures. Epilepsy Behav 8:542546.
  • Yatsenko SA, Treadwell-Deering D, Krull K, Lewis RA, Glaze D, Stankiewicz P, Lupski JR, Potocki L. 2005. Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications. Am J Med Genet A 138A:175180.