Vissers LELM, Gilissen C, Veltman JA. Genetic studies in intellectual disability and related disorders. Nat Rev Genet. 2016;17:9–18.
Article
CAS
Google Scholar
Schluth-Bolard C, Delobel B, Sanlaville D, Boute O, Cuisset J-M, Sukno S, et al. Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases. Eur J Med Genet. 2009;52:291–6.
Article
Google Scholar
Rauch A, Hoyer J, Guth S, Zweier C, Kraus C, Becker C, et al. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A. 2006;140A:2063–74.
Article
Google Scholar
Kumar A, Becker LA, Depinet TW, Haren JM, Kurtz CL, Robin NH, et al. Molecular characterization and delineation of subtle deletions in de novo “balanced” chromosomal rearrangements. Hum Genet. 1998;103:173 https://doi.org/10.1007/PL00008706.
CAS
PubMed
Google Scholar
Dupont J-M, Cuisset L, Cartigny M, Le Tessier D, Vasseur C, Rabineau D, et al. Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient. Am J Med Genet. 2002;111:405–8.
Article
Google Scholar
Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee A, et al. Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet. 2006;79:370–7.
Article
CAS
Google Scholar
Di Gregorio E, Bianchi FT, Schiavi A, Chiotto AMA, Rolando M, di Cantogno LV, et al. A de novo X;8 translocation creates aPTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia. J Med Genet. 2013;50:543–51.
Article
Google Scholar
Kleinjan DJ, van Heyningen V. Position effect in human genetic disease. Hum Mol Genet. 1998;7:1611–8.
Article
CAS
Google Scholar
Lupiáñez DG, Kraft K, Heinrich V, Krawitz P, Brancati F, Klopocki E, et al. Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions. Cell. 2015;161:1012–25.
Article
Google Scholar
Franke M, Ibrahim DM, Andrey G, Schwarzer W, Heinrich V, Schöpflin R, et al. Formation of new chromatin domains determines pathogenicity of genomic duplications. Nature. 2016;538:265–9.
Article
CAS
Google Scholar
Lupiáñez DG, Spielmann M, Mundlos S. Breaking TADs: How Alterations of Chromatin Domains Result in Disease. Trends Genet. 2016;32:225–37.
Article
Google Scholar
Spielmann M, Lupiáñez DG, Mundlos S. Structural variation in the 3D genome. Nat Rev Genet. 2018. https://doi.org/10.1038/s41576-018-0007-0.
Article
CAS
Google Scholar
Davis CA, Hitz BC, Sloan CA, Chan ET, Davidson JM, Gabdank I, et al. The Encyclopedia of DNA elements (ENCODE): data portal update. Nucleic Acids Res. 2018;46:D794–801.
Article
CAS
Google Scholar
Wang Y, Song F, Zhang B, Zhang L, Xu J, Kuang D, et al. The 3D Genome Browser: a web-based browser for visualizing 3D genome organization and long-range chromatin interactions. Genome Biol. 2018;19:151.
Article
Google Scholar
Vrečar I, Innes J, Jones EA, Kingston H, Reardon W, Kerr B, et al. Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements. J Pediatr Genet. 2017;6:129–41.
Article
Google Scholar
Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, et al. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet. 2017;49:36–45.
Article
CAS
Google Scholar
Novara F, Rizzo A, Bedini G, Girgenti V, Esposito S, Pantaleoni C, et al. MEF2C deletions and mutations versus duplications: a clinical comparison. Eur J Med Genet. 2013;56:260–5.
Article
Google Scholar
Le Meur N, Holder-Espinasse M, Jaillard S, Goldenberg A, Joriot S, Amati-Bonneau P, Guichet A, Barth M, Charollais A, Journel H, Auvin S, Boucher C, Kerckaert JP, David V, Manouvrier-Hanu S, Saugier-Veber P, Frebourg T, Dubourg C, Andrieux J, Bonneau D. MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. J Med Genet. 2010;47(1):22–9.
Cesaretti C, Spaccini L, Righini A, Parazzini C, Conte G, Crosti F, et al. Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype. Am J Med Genet A. 2016;170A:1352–7.
Article
Google Scholar
Zweier M, Gregor A, Zweier C, Engels H, Sticht H, Wohlleber E, et al. Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Hum Mutat. 2010;31:722–33.
Article
CAS
Google Scholar
Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CMB, Schaaf CP, et al. Autism and other neuropsychiatric symptoms are prevalent in individuals with MECP2 duplication syndrome. Ann Neurol. 2009;66:771–82.
Article
CAS
Google Scholar
Szafranski P, Golla S, Jin W, Fang P, Hixson P, Matalon R, et al. Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications. Eur J Hum Genet. 2015;23:915–21.
Article
CAS
Google Scholar
Hu J, Liao J, Sathanoori M, Kochmar S, Sebastian J, Yatsenko SA, et al. CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders. J Neurodev Disord. 2015;7:26.
Article
Google Scholar
Tan JY, Smith AAT, Ferreira da Silva M, Matthey-Doret C, Rueedi R, Sönmez R, et al. cis-Acting Complex-Trait-Associated lincRNA Expression Correlates with Modulation of Chromosomal Architecture. Cell Rep. 2017;18:2280–8.
Article
CAS
Google Scholar
GTEx Consortium. The Genotype-Tissue Expression (GTEx) project. Nat Genet. 2013;45:580–5.
Article
Google Scholar
Fishilevich S, Nudel R, Rappaport N, Hadar R, Plaschkes I, Iny Stein T, et al. GeneHancer: genome-wide integration of enhancers and target genes in GeneCards. Database. 2017;2017. https://doi.org/10.1093/database/bax028.