Categoría: Open access
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Long-read sequencing enables trio-assisted phasing of de novo variants in the imprinted gene MAGEL2
Schaaf-Yang syndrome and Prader-Willi syndrome are imprinting disorders that result from the disruption of paternally expressed genes within the 15q11-q13 region. Both conditions present with overlapping clinical features including developmental delay,…
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Perspectives of adolescents and young adults with advanced cancer on complete genomic analysis in standard oncology care
PurposeTumour genomic profiling, including whole genome sequencing (WGS), offers opportunities for refined diagnosis and personalised treatment for adolescents and young adults (AYAs) with advanced or poor prognostic cancer. This study explores AYAs&rs…
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Perspectives of adolescents and young adults with advanced cancer on complete genomic analysis in standard oncology care
PurposeTumour genomic profiling, including whole genome sequencing (WGS), offers opportunities for refined diagnosis and personalised treatment for adolescents and young adults (AYAs) with advanced or poor prognostic cancer. This study explores AYAs&rs…
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Comprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variants
BackgroundThis study aimed to analyse the distribution and genotype-phenotype correlations of pathogenic variants among 11 509 newborns carrying at least one common deafness-associated variant.MethodsA genotype distribution analysis was performed on 11…
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Comprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variants
BackgroundThis study aimed to analyse the distribution and genotype-phenotype correlations of pathogenic variants among 11 509 newborns carrying at least one common deafness-associated variant.MethodsA genotype distribution analysis was performed on 11…
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Comparison of clinical characteristics between patients with single mutation and co-mutation in hereditary renal cancer: a retrospective analysis of 115 patients with von Hippel-Lindau syndrome
Purposevon Hippel-Lindau (VHL) syndrome-related renal cell carcinoma (RCC) is the most prevalent hereditary RCC and exhibits clinical heterogeneity, complicating patient management. While VHL gene inactivation is the primary driver, the impact of co-oc…
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Comprehensive evidence for the pathogenicity of the BRCA2 c.7847C>T (p.Ser2616Phe) variant specific to the Japanese population
BackgroundThe BRCA2 c.7847C>T (p.Ser2616Phe) variant is specific to the Japanese population and has long remained a variant of uncertain significance. Because BRCA1/2 genetic testing serves as a companion diagnostic for poly (ADP-ribose) polymerase …
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Comparison of clinical characteristics between patients with single mutation and co-mutation in hereditary renal cancer: a retrospective analysis of 115 patients with von Hippel-Lindau syndrome
Purposevon Hippel-Lindau (VHL) syndrome-related renal cell carcinoma (RCC) is the most prevalent hereditary RCC and exhibits clinical heterogeneity, complicating patient management. While VHL gene inactivation is the primary driver, the impact of co-oc…
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Comprehensive evidence for the pathogenicity of the BRCA2 c.7847C>T (p.Ser2616Phe) variant specific to the Japanese population
BackgroundThe BRCA2 c.7847C>T (p.Ser2616Phe) variant is specific to the Japanese population and has long remained a variant of uncertain significance. Because BRCA1/2 genetic testing serves as a companion diagnostic for poly (ADP-ribose) polymerase …
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Diagnosis complexity of dentinogenesis imperfecta involving DSPP genetic variants
BackgroundVariants in the dentin sialophosphoprotein (DSPP) gene are associated with dentin dysplasia type II (DD-II; OMIM # 125420) and dentinogenesis imperfecta (DI) types II (OMIM # 125490) and III (OMIM # 125500). DSPP encodes a precursor protein c…