Publications
FAIR Header Reference genome: a TRUSTworthy standard. Brief Bioinform. 2024 ;25(3).
. Variant-level matching for diagnosis and discovery: Challenges and opportunities. Hum Mutat. 2022 ;43(6):782-790.
. Beyond MRI: on the scientific value of combining non-human primate neuroimaging with metadata. Neuroimage. 2021 ;228:117679.
. The Human Genome Project changed everything. Nat Rev Genet. 2020 ;21(10):575-576.
. Importance of Participant-Centricity and Trust for a Sustainable Medical Information Commons. J Law Med Ethics. 2019 ;47(1):12-20.
. Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example. J Am Med Inform Assoc. 2018 ;25(10):1375-1381.
. Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines. Cell Syst. 2018 ;6(3):271-281.e7.
. Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology. Nat Genet. 2017 ;49(11):1560-1563.
. Creating a data resource: what will it take to build a medical information commons?. Genome Med. 2017 ;9(1):84.
. An open access pilot freely sharing cancer genomic data from participants in Texas. Sci Data. 2016 ;3:160010.
. The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat. 2015 ;36(10):915-21.
. Genetics. No longer de-identified. Science. 2006 ;312(5772):370-1.
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