Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
2015 · Neuron · 332 citations
https://doi.org/10.1016/j.neuron.2015.09.048
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Bo Yuan
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Bo Yuan is an academic researcher. The author has contributed to research in topics: Genomics and Rare Diseases & Genomic variations and chromosomal abnormalities & RNA and protein synthesis mechanisms. The author has an h-index of 50, co-authored 196 publications.
ORCID: 0000-0001-7278-5116Papers by this author
worksX-linked acrogigantism syndrome: clinical profile and therapeutic responses
2015 · Endocrine Related Cancer · 181 citations
https://doi.org/10.1530/erc-15-0038
Analysis of the ABCA4 genomic locus in Stargardt disease
2014 · Human Molecular Genetics · 131 citations
https://doi.org/10.1093/hmg/ddu396
Identification of novel candidate disease genes from de novo exonic copy number variants
2017 · Genome Medicine · 62 citations
https://doi.org/10.1186/s13073-017-0472-7
The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities
2024 · Communications Biology · 45 citations
https://doi.org/10.1038/s42003-023-05708-y
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation
2022 · Genome Medicine · 34 citations
https://doi.org/10.1186/s13073-022-01123-w
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