Bethany A. Buckley
Directorate-General for Interpretation(BE)Ambry Genetics (United States)(US)
Publications by Year
Research Areas
Cystic Fibrosis Research Advances, Genetics, Aging, and Longevity in Model Organisms, Cancer Genomics and Diagnostics, Genomics and Rare Diseases, Plant Molecular Biology Research
Most-Cited Works
- → A nuclear Argonaute promotes multigenerational epigenetic inheritance and germline immortality(2012)549 cited
- → A Pre-mRNA–Associating Factor Links Endogenous siRNAs to Chromatin Regulation(2011)158 cited
- → Clinical validity of expanded carrier screening: Evaluating the gene‐disease relationship in more than 200 conditions(2020)11 cited
- → Intellectual disability and epilepsy due to the K/L‐mediated Xq28 duplication: Further evidence of a distinct, dosage‐dependent phenotype(2018)10 cited
- → Lessons from the CAGI‐4 Hopkins clinical panel challenge(2017)8 cited
- → Clinical validity of expanded carrier screening: evaluating the gene-disease relationship in more than 200 conditions(2019)1 cited
- → Cover, Volume 41, Issue 8(2020)
- → P796: Prenatal diagnosis of a novel biallelic ARFGEF1-related disorder due to uniparental Isodisomy: A case report(2024)