Miranda Galey

机构：Seattle Children's Hospital, University of Washington, Sphere Institute · ORCID：0000-0002-4721-7499

发表论文 30 篇 · 总被引 317 次 · h-index 9

代表论文

• Beyond the exome: What’s next in diagnostic testing for Mendelian conditions (2023 · The American Journal of Human Genetics · 被引 125)
• Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases (2022 · Journal of Medical Genetics · 被引 27)
• Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement (2024 · Nature Communications · 被引 25)
• A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development (2024 · Nature Communications · 被引 16)
• Heterozygous inversion breakpoints suppress meiotic crossovers by altering recombination repair outcomes (2023 · PLoS Genetics · 被引 15)
• 3-hour genome sequencing and targeted analysis to rapidly assess genetic risk (2022 · medRxiv · 被引 15)