Associated Papers
Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.
Bayam E et al.
Embo Molecular Medicine, 2025
39609633 (PubMed )
Supplement: 44321_2024_178_MOESM1_ESM.xlsx › Sheet1
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Gomes CC et al.
Nature Communications, 2018
30385747 (PubMed )
Supplement: 41467_2018_6690_MOESM6_ESM.xlsx › Supplementary_Data_3
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 266.133
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