Associated Papers
A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia.
Martins M et al.
International Journal of Molecular Sciences, 2023
37628781 (PubMed )
Supplement: ijms-24-12603-s001.zip › ijms-2533004-supplementary.pdf
Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test.
Sheth F et al.
Bmc Neurology, 2023
37543562 (PubMed )
Supplement: 12883_2023_3341_MOESM1_ESM.xlsx › Primer_pairs
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
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