Associated Papers
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis.
Timberlake AT et al.
Human Genetics, 2023
Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism.
Sihombing NRB et al.
American Journal of Medical Genetics. Part A, 2020
Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome.
Hancarova M et al.
American Journal of Medical Genetics. Part A, 2019
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Tatton-Brown K et al.
American Journal of Human Genetics, 2017
28475857 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_1
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