Associated Papers
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
Eye and ocular adnexa manifestations of MED12-related disorders.
Shah A et al.
Ophthalmic Genetics, 2022
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
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
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