119 citations
- National Institutes of HealthUS2 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…
q-bio.GN2024★ 2 cited
MetaCompass: Reference-guided Assembly of Metagenomes
Tu Luan, Victoria Cepeda, Bo Liu +8
Metagenomic studies have primarily relied on de novo assembly for reconstructing genes and genomes from microbial mixtures. While reference-guided approaches have been employed in…
stat.ML2014★ 1 cited
A Permutation Approach for Selecting the Penalty Parameter in Penalized Model Selection
Jeremy Sabourin, William Valdar, Andrew Nobel
We describe a simple, efficient, permutation based procedure for selecting the penalty parameter in the LASSO. The procedure, which is intended for applications where variable sele…