The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study
2018 · European Journal of Human Genetics · 71 citations
https://doi.org/10.1038/s41431-018-0299-8
L
Lucia Abela
Claim or correct this author profile
Claim this profile or suggest corrections to the name, affiliation, bio, photo, or paper titles. Approved changes appear as verified CitedEvidence overlays.
50
Papers
1.1K
Citations
19
h-index
23
i10-index
Lucia Abela is an academic researcher. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Metabolism and Genetic Disorders & Genomics and Rare Diseases. The author has an h-index of 19, co-authored 43 publications.
ORCID: 0000-0002-8328-5042Papers by this author
worksEpigenetic silencing of miRNA-9 is associated with HES1 oncogenic activity and poor prognosis of medulloblastoma
2013 · British Journal of Cancer · 57 citations
https://doi.org/10.1038/bjc.2013.764
Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study
2014 · Orphanet Journal of Rare Diseases · 21 citations
https://doi.org/10.1186/s13023-014-0176-7
Extended pharmacological thromboprophylaxis and clinically relevant venous thromboembolism after major abdominal and pelvic surgery: international, prospective, propensity score-weighted cohort study
2025 · British journal of surgery · 2 citations
https://doi.org/10.1093/bjs/znaf005
Research topics
topicsChat about Author
Papers
Chat
Click to start Chat