Associated Papers
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S2
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.
Maroofian R et al.
Journal of Medical Genetics, 2023
36581449 (PubMed )
Supplement: jmg-2022-108566supp002.xlsx › Sheet1
Expanding the novel MAPKAPK5-related developmental disorder's genotype-phenotype correlation: Patient report and 19 months of follow-up.
Vecchio D et al.
Clinical Genetics, 2022
Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly.
Horn D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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