Mutational spectrum in a worldwide study of 29,700 families with<i>BRCA1</i>or<i>BRCA2</i>mutations
2018 · Human Mutation · 305 citations
https://doi.org/10.1002/humu.23406
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Almuth Caliebe
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Almuth Caliebe is an academic researcher from Christian-Albrechts-Universität zu Kiel. The author has contributed to research in topics: Genomic variations and chromosomal abnormalities & Prenatal Screening and Diagnostics & Epigenetics and DNA Methylation. The author has an h-index of 38, co-authored 103 publications.
ORCID: 0000-0003-2157-425XPapers by this author
worksLarge scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification
2019 · Human Mutation · 150 citations
https://doi.org/10.1002/humu.23818
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases
2023 · Nature · 145 citations
https://doi.org/10.1038/s41586-022-05682-1
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
2019 · Nature Communications · 138 citations
https://doi.org/10.1038/s41467-018-08053-5
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
2018 · Genetics in Medicine · 69 citations
https://doi.org/10.1038/s41436-018-0137-y
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum
2019 · Genetics in Medicine · 69 citations
https://doi.org/10.1038/s41436-019-0585-z
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