Associated Papers
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
International consensus recommendations on the diagnostic work-up for malformations of cortical development.
Oegema R et al.
Nature Reviews. Neurology, 2020
32895508 (PubMed )
Supplement: 41582_2020_395_MOESM1_ESM.pdf
Primary Dwarfism, Microcephaly, and Chorioretinopathy due to a PLK4 Mutation in Two Siblings.
Martín-Rivada Á et al.
Hormone Research in Paediatrics, 2020
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.
Martin CA et al.
Nature Genetics, 2014
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