Associated Papers
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
36053979 (PubMed )
Supplement: CGE-102-414-s009.xlsx › Blad1
Genetics of Pediatric Epilepsy: Next-Generation Sequencing in Clinical Practice.
Blazekovic A et al.
Genes, 2022
36011376 (PubMed )
Supplement: genes-13-01466-s001.zip › genes-1800327-supplementary.pdf
Genomic selection signatures in autism spectrum disorder identifies cognitive genomic tradeoff and its relevance in paradoxical phenotypes of deficits versus potentialities.
Prakash A et al.
Scientific Reports, 2021
33986442 (PubMed )
Supplement: 41598_2021_89798_MOESM3_ESM.xlsx › Table_S1
Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).
Mullegama SV et al.
European Journal of Human Genetics : Ejhg, 2016
The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.
Cukier HN et al.
Autism Research : Official Journal of the International Society for Autism Research, 2012
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Talkowski ME et al.
American Journal of Human Genetics, 2011
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