Biruté Tumiene

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott et al. · The American Journal of Human Genetics · 2019 · 303 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

Lisa‐Marie Niestroj, Eduardo Pérez‐Palma, Daniel P. Howrigan et al. · Brain · 2020 · 81 citations · Full text

Medicine, Genetics, Molecular Genetics +13

European Reference Networks: challenges and opportunities

Biruté Tumiene, Irene M.J. Mathijssen, Alberto M. Pereira et al. · Journal of Community Genetics · 2021 · 71 citations · Full text

Computing, Computer Science, Information Technology +7

Rare disease care pathways in the EU: from odysseys and labyrinths towards highways

Biruté Tumiene · Journal of Community Genetics · 2021 · 64 citations · Full text

Nursing, Health Policy, Health Services Administration +7

Rare disease education in Europe and beyond: time to act

Biruté Tumiene, Harm Peters, Béla Melegh et al. · Orphanet Journal of Rare Diseases · 2022 · 63 citations · Full text

Public Health, Health Education, Medical Education +11