690 citations
Counting papers with at most 25 authors, so collaboration author lists do not stand in for the people here.
- University of WashingtonUS3 papers
- Baylor College of MedicineUS2 papers
- Broad InstituteUS2 papers
- Harvard UniversityUS2 papers
- Stanford UniversityUS2 papers
- University of CambridgeGB2 papers
- Wellcome Sanger InstituteGB2 papers
- Baylor GeneticsUS1 paper
- Boston Children's HospitalUS1 paper
- California Institute of TechnologyUS1 paper
- Cambridge University Hospitals NHS Foundation TrustGB1 paper
- Cancer Research UKGB1 paper
3 papers
Combining multiplexed functional data to improve variant classification
Atlas of Variant Effects Alliance, :, Jeffrey D. Calhoun +10
With the surge in the number of variants of uncertain significance (VUS) reported in ClinVar in recent years, there is an imperative to resolve VUS at scale. Multiplexed assays of…
Beyond the exome: what's next in diagnostic testing for Mendelian conditions
Monica H. Wojcik, Chloe M. Reuter, Shruti Marwaha +21
Despite advances in clinical genetic testing, including the introduction of exome sequencing (ES), more than 50% of individuals with a suspected Mendelian condition lack a precise…
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,…