690 citations
Counting papers with at most 25 authors, so collaboration author lists do not stand in for the people here.
- National Institutes of HealthUS6 papers
- Harvard UniversityUS2 papers
- Pittsburgh Supercomputing CenterUS2 papers
- Stanford MedicineUS2 papers
- Stanford UniversityUS2 papers
- University of California San DiegoUS2 papers
- University of CambridgeGB2 papers
- University of North Carolina at Chapel HillUS2 papers
- Wellcome Sanger InstituteGB2 papers
- Aarhus University HospitalDK1 paper
- Ain Shams University HospitalEG1 paper
- Assistance Publique – Hôpitaux de ParisFR1 paper
8 papers
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…
Ensuring Adherence to Standards in Experiment-Related Metadata Entered Via Spreadsheets
Martin J. O'Connor, Josef Hardi, Marcos Martínez-Romero +5
Scientists increasingly recognize the importance of providing rich, standards-adherent metadata to describe their experimental results. Despite the availability of sophisticated to…
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…
Mapping the Human Body at Cellular Resolution -- The NIH Common Fund Human BioMolecular Atlas Program
Michael P Snyder, Shin Lin, Amanda Posgai +22
Transformative technologies are enabling the construction of three dimensional (3D) maps of tissues with unprecedented spatial and molecular resolution. Over the next seven years,…
An efficient counting method for the colored triad census
Jeffrey Lienert, Laura Koehly, Felix Reed-Tsochas +1
The triad census is an important approach to understand local structure in network science, providing comprehensive assessments of the observed relational configurations between tr…
Detection and Visualization of Differential Splicing in RNA-Seq Data with JunctionSeq
Stephen W. Hartley, James C. Mullikin
Although RNA-Seq data provide unprecedented isoform-level expression information, detection of alternative isoform regulation (AIR) remains difficult, particularly when working wit…
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…
Non-alignment comparison of human and high primate genomes
V. M. Kirzhner, S. Frenkel, A. B. Korol
Compositional spectra (CS) analysis based on k-mer scoring of DNA sequences was employed in this study for dot-plot comparison of human and primate genomes. The detection of extend…