119 citations
- University of Technology SydneyAU2 papers
- Aarhus University HospitalDK1 paper
- Ain Shams University HospitalEG1 paper
- Assistance Publique – Hôpitaux de ParisFR1 paper
- Belfast Health and Social Care TrustGB1 paper
- Birkbeck, University of LondonGB1 paper
- Boston Children's HospitalUS1 paper
- Brigham and Women's HospitalUS1 paper
- Brooke Army Medical CenterUS1 paper
- Cairo University hospitalsEG1 paper
- Cambridge University Hospitals NHS Foundation TrustGB1 paper
- Centre d’Etudes Politiques Et sociaLesFR1 paper
3 papers
q-bio.NC2025★ 119 cited
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
L Cif, D Demailly, JP Lin +112
Heterozygous mutations in KMT2B are associated with an early-onset, progressive, and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor feat…
cs.LG2023★ 5 cited
Inferring Actual Treatment Pathways from Patient Records
Adrian Wilkins-Caruana, Madhushi Bandara, Katarzyna Musial +2
Treatment pathways are step-by-step plans outlining the recommended medical care for specific diseases; they get revised when different treatments are found to improve patient outc…
cs.LG2023★ 21 cited
Machine Learning for Administrative Health Records: A Systematic Review of Techniques and Applications
Adrian Caruana, Madhushi Bandara, Katarzyna Musial +2
Machine learning provides many powerful and effective techniques for analysing heterogeneous electronic health records (EHR). Administrative Health Records (AHR) are a subset of EH…