REFERENCES
1. Deciphering Developmental Disorders Study. Large-scale discovery of novel genetic causes of developmental disorders. Nature 2015;519:223-8.
2. Deciphering Developmental Disorders Study. Prevalence and architecture of de novo mutations in developmental disorders. Nature 2017;542:433-8.
3. Gilissen C, Hehir-Kwa JY, Thung DT, et al. Genome sequencing identifies major causes of severe intellectual disability. Nature 2014;511:344-7.
4. Srivastava S, Love-Nichols JA, Dies KA, et al. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med 2019;21:2413-21.
5. Lelieveld SH, Reijnders MRF, Pfundt R, et al. Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. Nat Neurosci 2016;19:1194-6.
6. Marti M, Millan MIP, Young JI, Walz K. Intellectual disability, the long way from genes to biological mechanisms. J Transl Genet Genom 2020;4:104-13.
7. Khajuria R, Gupta N, van Roozendaal KEP, et al. Spectrum of MECP2 mutations in Indian females with Rett Syndrome - a large cohort study. J Transl Genet Genom 2020;4:91-103.
8. Fichera M, Saccuzzo L, Bertuzzo S, et al. Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome. J Transl Genet Genom 2020;4:114-32.
9. Gropman AL, Anderson A. Novel imaging technologies for genetic diagnoses in the inborn errors of metabolism. J Transl Genet Genom 2020;4.
10. Pascolini G. DeepGestalt analysis of the SETD5-associated intellectual disability syndrome. J Transl Genet Genom 2020;4:17-21.
11. Goodman SJ, Cytrynbaum C, Chung BHY, et al. EHMT1 pathogenic variants and 9q34.3 microdeletions share altered DNA methylation patterns in patients with Kleefstra syndrome. J Transl Genet Genom 2020;4:144-58.
12. Franz M, Hagenau L, Jensen LR, Kuss AW. Role of transfer RNA modification and aminoacylation in the etiology of congenital intellectual disability. J Transl Genet Genom 2020;4:50-70.
13. Yasin H, Zahir FR. Chromodomain helicase DNA-binding proteins and neurodevelopmental disorders. J Transl Genet Genom 2020;4:307-19.
14. Mohammadi NA, Freude K, Haukedal H, et al. Human induced pluripotent cells in personalized treatment of monogenic epilepsies. J Transl Genet Genom 2020;4:238-50.
15. Dana H, Tahtasakal R, Sener E F. Animal models of autism: a perspective from autophagy mechanisms. J Transl Genet Genom 2020;4:251-62.
