York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1 T Markello, D Chen, JY Kwan, I Horkayne-Szakaly, A Morrison, ... Molecular genetics and metabolism 114 (3), 474-482, 2015 | 124 | 2015 |
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency WP Bone, NL Washington, OJ Buske, DR Adams, J Davis, D Draper, ... Genetics in Medicine 18 (6), 608-617, 2015 | 101 | 2015 |
Defining disease, diagnosis, and translational medicine within a homeostatic perturbation paradigm: The national institutes of health undiagnosed diseases program experience T Gall, E Valkanas, C Bello, T Markello, C Adams, WP Bone, AJ Brandt, ... Frontiers in medicine 4, 62, 2017 | 36 | 2017 |
Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience EMJ Lee, K Xu, E Mosbrook, A Links, J Guzman, DR Adams, E Flynn, ... Genetics in Medicine 18 (12), 1303-1307, 2016 | 16 | 2016 |
Connecting crabs, currents, and coastal communities: Examining the impacts of changing ocean conditions on the distribution of US west coast Dungeness crab commercial catch CL Magel, EMJ Lee, AM Strawn, K Swieca, AD Jensen Frontiers in Marine Science 7, 401, 2020 | 11 | 2020 |
Big fishery, big data, and little crabs: using genomic methods to examine the seasonal recruitment patterns of early life stage Dungeness crab (Cancer magister) in the … EMJ Lee, KG O'Malley Frontiers in Marine Science 6, 2020 | 6 | 2020 |
Fine-scale spatial and temporal genomic variation among Dungeness crab Cancer magister larval recruits in the California Current Ecosystem EMJ Lee, KG O'Malley Marine Ecology Progress Series 649, 67-81, 2020 | 3 | 2020 |
Distributed cognition and process management enabling individualized translational research: The NIH Undiagnosed Diseases Program experience AE Links, D Draper, E Lee, J Guzman, Z Valivullah, V Maduro, V Lebedev, ... Frontiers in medicine 3, 2016 | 3 | 2016 |
The Undiagnosed Diseases Program Integrated Collaboration System (UDPICS): One Program’s Experience Developing Custom Software to Support Research for Complex-Disease Families J Guzman, E Lee, D Draper, Z Valivullah, G Yu, M Sincan, WA Gahl, ... Children 2 (3), 342-357, 2015 | 3 | 2015 |
Big Fishery, Big Data, and Little Crabs: Using a Genomic Approach to Examine Larval Recruitment Patterns of Dungeness Crab (Cancer magister) in the California Current Ecosystem EMJ Lee | 1 | 2019 |