Publications
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Filters: Keyword is Mutation and Author is Bo Yuan [Clear All Filters]
Analysis of the ABCA4 genomic locus in Stargardt disease. Hum Mol Genet. 2014 ;23(25):6797-806.
. Genetic and clinical analysis of ABCA4-associated disease in African American patients. Hum Mutat. 2014 ;35(10):1187-94.
. Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med. 2014 ;371(25):2363-74.
. Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes. Hum Genet. 2016 ;135(1):9-19.
. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 ;21(3):663-675.
. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 ;176(6):1310-1324.e10.
. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 ;380(25):2478-2480.
. Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet. 2020 ;28(9):1243-1264.
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