Associated Papers
Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar disorder.
Nishioka M et al.
Molecular Psychiatry, 2023
37248276 (PubMed )
Supplement: 41380_2023_2096_MOESM2_ESM.xlsx › TableS5
Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder.
Nishioka M et al.
Nature Communications, 2021
34145229 (PubMed )
Supplement: 41467_2021_23453_MOESM4_ESM.xlsx › Supplementary_Data_1
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
McCorvie TJ et al.
Human Molecular Genetics, 2016
27005423 (PubMed )
Supplement: supp_ddw091_SupplementaryInformation.pdf
Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications.
Singh R et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012
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