Associated Papers
Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism.
Shaw NC et al.
Molecular Medicine (cambridge, Mass.), 2025
High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.
Spataro N et al.
Genes, 2023
36980980 (PubMed )
Supplement: genes-14-00708-s001.zip › TableS4.xls › Sheet1
Eye and ocular adnexa manifestations of MED12-related disorders.
Shah A et al.
Ophthalmic Genetics, 2022
Correspondence on "De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females" by Polla et al.
Riccardi F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Two females with distinct de novo missense pathogenic variants in MED12 and vastly differing phenotypes.
Gonzalez A et al.
American Journal of Medical Genetics. Part A, 2021
MED12-Related (Neuro)Developmental Disorders: A Question of Causality.
Plassche SV et al.
Genes, 2021
33925166 (PubMed )
Supplement: genes-12-00663-s001.zip › genes-1190333-supplementary.xlsx › Sheet1
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.
Polla DL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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