Genetic studies in intellectual disability and related disorders, Nat Rev Genet, vol.17, pp.9-18, 2016. ,
Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases, Eur J Med Genet, vol.52, pp.291-297, 2009. ,
URL : https://hal.archives-ouvertes.fr/inserm-00405484
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation, Am J Med Genet A, vol.140, pp.2063-74, 2006. ,
Molecular characterization and delineation of subtle deletions in de novo "balanced" chromosomal rearrangements, Hum Genet, vol.103, p.173, 1998. ,
Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient, Am J Med Genet, vol.111, pp.405-413, 2002. ,
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome, Am J Hum Genet, vol.79, pp.370-377, 2006. ,
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, vol.50, pp.543-51, 2013. ,
Position effect in human genetic disease, Hum Mol Genet, vol.7, pp.1611-1619, 1998. ,
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions, Cell, vol.161, pp.1012-1037, 2015. ,
Formation of new chromatin domains determines pathogenicity of genomic duplications, Nature, vol.538, pp.265-274, 2016. ,
Breaking TADs: How Alterations of Chromatin Domains Result in Disease, Trends Genet, vol.32, pp.225-262, 2016. ,
Structural variation in the 3D genome, Nat Rev Genet, 2018. ,
The Encyclopedia of DNA elements (ENCODE): data portal update, Nucleic Acids Res, vol.46, pp.794-801, 2018. ,
The 3D Genome Browser: a web-based browser for visualizing 3D genome organization and long-range chromatin interactions, Genome Biol, vol.19, p.151, 2018. ,
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, vol.6, pp.129-170, 2017. ,
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies, Nat Genet, vol.49, pp.36-45, 2017. ,
MEF2C deletions and mutations versus duplications: a clinical comparison, Eur J Med Genet, vol.56, pp.260-265, 2013. ,
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, vol.47, issue.1, pp.22-31, 2010. ,
URL : https://hal.archives-ouvertes.fr/inserm-00406331
Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype, Am J Med Genet A, vol.170, pp.1352-1359, 2016. ,
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, vol.31, pp.722-755, 2010. ,
Autism and other neuropsychiatric symptoms are prevalent in individuals with MECP2 duplication syndrome, Ann Neurol, vol.66, pp.771-82, 2009. ,
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications, Eur J Hum Genet, vol.23, pp.915-936, 2015. ,
CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders, J Neurodev Disord, vol.7, p.26, 2015. ,
cis-Acting Complex-Trait-Associated lincRNA Expression Correlates with Modulation of Chromosomal Architecture, Cell Rep, vol.18, pp.2280-2288, 2017. ,
The Genotype-Tissue Expression (GTEx) project, Nat Genet, vol.45, pp.580-585, 2013. ,
GeneHancer: genome-wide integration of enhancers and target genes in GeneCards, 2017. ,
, Publisher's Note
, Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations