Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM6_ESM.xlsx › Sheet1
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.
Courraud J et al.
Molecular Psychiatry, 2024
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA et al.
Hgg Advances, 2022
35047860 (PubMed )
Supplement: mmc2.xlsx › Table_S1_samples
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.
Jensen LR et al.
European Journal of Human Genetics : Ejhg, 2007
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