Translational aspects in neurodevelopmental disorders

References

[1] Deciphering Developmental Disorders StudyLarge-scale discovery of novel genetic causes of developmental disorders..Nature2015;519:223-8 PMCID:PMC5955210

[2] Deciphering Developmental Disorders StudyPrevalence and architecture of de novo mutations in developmental disorders..Nature2017;542:433-8 PMCID:PMC6016744

[3] GilissenC,ThungDT.Genome sequencing identifies major causes of severe intellectual disability..Nature2014;511:344-7

[4] SrivastavaS,DiesKA.Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders..Genet Med2019;21:2413-21 PMCID:PMC6831729

[5] LelieveldSH,PfundtR.Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability..Nat Neurosci2016;19:1194-6

[6] MartiM,YoungJI.Intellectual disability, the long way from genes to biological mechanisms..J Transl Genet Genom2020;4:104-13

[7] KhajuriaR,van RoozendaalKEP.Spectrum of MECP2 mutations in Indian females with Rett Syndrome - a large cohort study..J Transl Genet Genom2020;4:91-103

[8] FicheraM,BertuzzoS.Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome..J Transl Genet Genom2020;4:114-32

[9] GropmanAL.Novel imaging technologies for genetic diagnoses in the inborn errors of metabolism..J Transl Genet Genom2020;4:

[10] PascoliniG.DeepGestalt analysis of the SETD5-associated intellectual disability syndrome..J Transl Genet Genom2020;4:17-21

[11] GoodmanSJ,ChungBHY.EHMT1 pathogenic variants and 9q34.3 microdeletions share altered DNA methylation patterns in patients with Kleefstra syndrome..J Transl Genet Genom2020;4:144-58

[12] FranzM,JensenLR.Role of transfer RNA modification and aminoacylation in the etiology of congenital intellectual disability..J Transl Genet Genom2020;4:50-70

[13] YasinH.Chromodomain helicase DNA-binding proteins and neurodevelopmental disorders..J Transl Genet Genom2020;4:307-19

[14] MohammadiNA,HaukedalH.Human induced pluripotent cells in personalized treatment of monogenic epilepsies..J Transl Genet Genom2020;4:238-50

[15] DanaH,SenerE F.Animal models of autism: a perspective from autophagy mechanisms..J Transl Genet Genom2020;4:251-62

[16] CendrósM,TorraM.The influence of CYP enzymes and ABCB1 on treatment outcomes in schizophrenia: association of CYP1A2 activity with adverse effects..J Transl Genet Genom2020;4:210-20