Associated Papers
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › IPK1_het
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
Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder.
Privitera F et al.
Revista Brasileira De Psiquiatria (sao Paulo, Brazil : 1999), 2023
35881528 (PubMed )
Supplement: 1516-4446-rbp-1516444620222650-suppl1.pdf
Exome sequencing for bipolar disorder points to roles of de novo loss-of-function and protein-altering mutations.
Kataoka M et al.
Molecular Psychiatry, 2016
27217147 (PubMed )
Supplement: mp201669x3.xlsx › Table_S2
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