Biruté Tumiene

机构：Vilnius University · ORCID：0000-0001-6010-2584

发表论文 59 篇 · 总被引 1546 次 · h-index 21

代表论文

• GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture (2023 · Nature Genetics · 被引 219)
• Rare disease education in Europe and beyond: time to act (2022 · Orphanet Journal of Rare Diseases · 被引 68)
• Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes (2024 · Nature Neuroscience · 被引 58)
• Global health for rare diseases through primary care (2024 · The Lancet Global Health · 被引 57)
• Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals (2023 · Nature Communications · 被引 56)
• 2022 Overview of Metabolic Epilepsies (2022 · Genes · 被引 25)