Rory J. Olson

机构：Mayo Clinic in Arizona · ORCID：0000-0003-0677-0447

发表论文 43 篇 · 总被引 626 次 · h-index 9

代表论文

• Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5 (2022 · Neurology · 被引 24)
• Impact of integrated translational research on clinical exome sequencing (2023 · Genetics in Medicine · 被引 14)
• Mayo Clinic Tapestry Study (2024 · Mayo Clinic Proceedings · 被引 13)
• Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease (2024 · BMC Genomics · 被引 7)
• Detection of outlier methylation from bisulfite sequencing data with novel Bioconductor package BOREALIS (2022 · bioRxiv (Cold Spring Harbor Laboratory) · 被引 6)
• The Complexity of Familial Inheritance in Pectus Excavatum: A Ten-Family Exome Sequencing Analysis (2024 · Genes · 被引 4)