Yuan, Bo

De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder

Küry, S., Besnard, T., Ebstein, F., Khan, T. N., Gambin, T., Douglas, J., Bacino, C. A., Craigen, W. J., Sanders, S. J., Lehmann, A., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

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The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease

Study, D. (. D. I. S. A. C., Liu, J., Zhou, Y., Liu, S., Song, X., Yang, X.-Z., Fan, Y., Chen, W., Akdemir, Z. C., Yan, Z., et al. (2018) · Human Genetics

Genetic Associations and EpidemiologyGenomic variations and chromosomal abnormalities

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AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders

Mao, D., Liu, C., Wang, L., AI-Ouran, R., Deisseroth, C., Pasupuleti, S., Kim, S. Y., Li, L., Rosenfeld, J. A., Meng, L., et al. (2024) · NEJM AI

Genomics and Rare DiseasesArtificial Intelligence in Healthcare and Education

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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Küry, S., Besnard, T., Ebstein, F., Khan, T. N., Gambin, T., Douglas, J., Bacino, C. A., Craigen, W. J., Sanders, S. J., Lehmann, A., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

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