Mechanisms underlying structural variant formation in genomic disorders
2016 · Nature Reviews Genetics · 788 citations
https://doi.org/10.1038/nrg.2015.25
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Claudia M.B. Carvalho
Broad Institute(US)
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Claudia M.B. Carvalho is an academic researcher from Broad Institute. The author has contributed to research in topics: Genomic variations and chromosomal abnormalities & Chromosomal and Genetic Variations & Genomics and Rare Diseases. The author has an h-index of 47, co-authored 126 publications.
ORCID: 0000-0002-2090-298XPapers by this author
worksCharacterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype
2007 · The American Journal of Human Genetics · 425 citations
https://doi.org/10.1086/512864
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
2017 · Genetics in Medicine · 66 citations
https://doi.org/10.1038/gim.2017.97
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
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome
2019 · Genome Medicine · 31 citations
https://doi.org/10.1186/s13073-019-0633-y
Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci
2024 · Cell Genomics · 25 citations
https://doi.org/10.1016/j.xgen.2024.100590
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