Associated Papers
Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.
Li Y et al.
Bmc Medical Genomics, 2024
38659011 (PubMed )
Supplement: 12920_2024_1877_MOESM2_ESM.xlsx › H12056928648
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL et al.
Genome Medicine, 2019
31847883 (PubMed )
Supplement: 13073_2019_702_MOESM1_ESM.xlsx › Table_S3A
Exome sequencing in families with severe mental illness identifies novel and rare variants in genes implicated in Mendelian neuropsychiatric syndromes.
Ganesh S et al.
Psychiatry and Clinical Neurosciences, 2019
30367527 (PubMed )
Supplement: PCN-73-11-s002.xlsx › Table_3
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