Emma L. Baple

机构：University of Exeter, Royal Devon & Exeter NHS Foundation Trust, Phillips Exeter Academy, Royal Devon and Exeter Hospital, Heavitree Hospital, NIHR Exeter Clinical Research Facility, Center for Genomic Science, Genomics (United Kingdom), Peninsula College of Medicine and Dentistry · ORCID：0000-0002-6637-3411

发表论文 168 篇 · 总被引 6067 次 · h-index 37

代表论文

• Determining the value of genomics in healthcare (2025 · Nature Medicine · 被引 11)
• Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study (2025 · Genetics in Medicine · 被引 10)
• mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node (2025 · Orphanet Journal of Rare Diseases · 被引 9)
• Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation (2025 · The American Journal of Human Genetics · 被引 6)
• Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome (2025 · Genetics in Medicine · 被引 5)
• Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia (2025 · The American Journal of Human Genetics · 被引 2)