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A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disabilityPreprint

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Microduplication and Microdeletion Syndromes Diagnosed Prenatally Using Single Nucleotide Polymorphism Array

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Curation and reporting of pathogenic genome-wide copy-number variants in a prenatal cell-free DNA screen

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Phenotypes Associated with 16p11.2 Copy Number Gains and Losses at a Single Institution

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Development of a microcosting protocol to determine the economic cost of diagnostic genomic testing for rare diseases in Australia

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15q13.3 Microdeletion Syndrome

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Faculty Opinions recommendation of Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

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15q13.3 Microdeletion Syndrome

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Additional file 2 of Trends in the prevalence, prenatal diagnosis, and outcomes of births with chromosomal abnormalities: a hospital-based study in Zhejiang Province, China during 2014–2020

Chen, X., Lin, D., Ye, Y., Zhang, X., & Chen, D. (2023) · Figshare · doi:10.6084/m9.figshare.22605871

Additional file 1 of Trends in the prevalence, prenatal diagnosis, and outcomes of births with chromosomal abnormalities: a hospital-based study in Zhejiang Province, China during 2014–2020

Chen, X., Lin, D., Ye, Y., Zhang, X., & Chen, D. (2023) · Figshare · doi:10.6084/m9.figshare.22605868

Additional file 3 of Trends in the prevalence, prenatal diagnosis, and outcomes of births with chromosomal abnormalities: a hospital-based study in Zhejiang Province, China during 2014–2020

Chen, X., Lin, D., Ye, Y., Zhang, X., & Chen, D. (2023) · Figshare · doi:10.6084/m9.figshare.22605874

Additional file 4 of Trends in the prevalence, prenatal diagnosis, and outcomes of births with chromosomal abnormalities: a hospital-based study in Zhejiang Province, China during 2014–2020

Chen, X., Lin, D., Ye, Y., Zhang, X., & Chen, D. (2023) · Figshare · doi:10.6084/m9.figshare.22605877

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