output
20162025
most citedKMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

119 citations

researchers with a paper here

Counting papers with at most 25 authors, so collaboration author lists do not stand in for the people here.

collaborating institutions
Showing 2025Show all

5 papers · 1 filter

cs.AI2025

AI for pRedicting Exacerbations in KIDs with aSthma (AIRE-KIDS)

Hui-Lee Ooi, Nicholas Mitsakakis, Margerie Huet Dastarac +5

Recurrent exacerbations remain a common yet preventable outcome for many children with asthma. Machine learning (ML) algorithms using electronic medical records (EMR) could allow a…

cs.LG2025

Transfer Learning and Machine Learning for Training Five Year Survival Prognostic Models in Early Breast Cancer

Lisa Pilgram, Kai Yang, Ana-Alicia Beltran-Bless +22

Prognostic information is essential for decision-making in breast cancer management. Recently trials have predominantly focused on genomic prognostication tools, even though clinic…

cs.CR2025★ 23 cited

A Consensus Privacy Metrics Framework for Synthetic Data

Lisa Pilgram, Fida K. Dankar, Jorg Drechsler +12

Synthetic data generation is one approach for sharing individual-level data. However, to meet legislative requirements, it is necessary to demonstrate that the individuals' privacy…

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.LG2025★ 3 cited

Synthetic Data Generation for Augmenting Small Samples

Dan Liu, Samer El Kababji, Nicholas Mitsakakis +6

Small datasets are common in health research. However, the generalization performance of machine learning models is suboptimal when the training datasets are small. To address this…