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Hakon Hakonarson
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2020 – today
- 2023
- [j20]Pascal S. Brandt
, Abel N. Kho, Yuan Luo
Characterizing variability of electronic health record-driven phenotype definitions. J. Am. Medical Informatics Assoc. 30(3): 427-437 (2023) - [j19]Ian M. Campbell
Clinical decision support with a comprehensive in-EHR patient tracking system improves genetic testing follow up. J. Am. Medical Informatics Assoc. 30(7): 1274-1283 (2023) - 2022
- [j18]Jingzhi Yu, Jennifer A. Pacheco, Anika S. Ghosh, Yuan Luo, Chunhua Weng, Ning Shang, Barbara Benoit, David S. Carrell, Robert J. Carroll, Ozan Dikilitas, Robert R. Freimuth, Vivian S. Gainer, Hakon Hakonarson, George Hripcsak, Iftikhar J. Kullo, Frank D. Mentch, Shawn N. Murphy, Peggy L. Peissig, Andrea H. Ramirez, Nephi Walton, Wei-Qi Wei, Luke V. Rasmussen:
Under-specification as the source of ambiguity and vagueness in narrative phenotype algorithm definitions. BMC Medical Informatics Decis. Mak. 22(1): 23 (2022) - 2021
- [j17]Joseph Glessner
DeepCNV: a deep learning approach for authenticating copy number variations. Briefings Bioinform. 22(5) (2021) - [j16]Fentaw Abegaz
Performance of model-based multifactor dimensionality reduction methods for epistasis detection by controlling population structure. BioData Min. 14(1): 16 (2021) - [j15]Mullai Murugan
Genomic considerations for FHIR®; eMERGE implementation lessons. J. Biomed. Informatics 118: 103795 (2021) - 2020
- [j14]Fei Tan, Tian Tian
Elucidation of DNA methylation on N6-adenine with deep learning. Nat. Mach. Intell. 2(8): 466-475 (2020)
2010 – 2019
- 2019
- [j13]Ning Shang
Making work visible for electronic phenotype implementation: Lessons learned from the eMERGE network. J. Biomed. Informatics 99 (2019) - [c2]Xinyuan Zhang, Yogasudha Veturi, Shefali Setia Verma, William Bone, Anurag Verma, Anastasia Lucas, Scott J. Hebbring, Joshua C. Denny, Ian B. Stanaway, Gail P. Jarvik, David R. Crosslin, Eric B. Larson, Laura Rasmussen-Torvik, Sarah A. Pendergrass, Jordan W. Smoller, Hakon Hakonarson, Patrick Sleiman, Chunhua Weng, David Fasel, Wei-Qi Wei, Iftikhar J. Kullo, Daniel J. Schaid, Wendy K. Chung, Marylyn D. Ritchie:
Detecting potential pleiotropy across cardiovascular and neurological diseases using univariate, bivariate, and multivariate methods on 43, 870 individuals from the eMERGE network. PSB 2019: 272-283 - 2018
- [j12]Xin Gao
DeepPolyA: A Convolutional Neural Network Approach for Polyadenylation Site Prediction. IEEE Access 6: 24340-24349 (2018) - 2016
- [j11]Theodore D. Satterthwaite
The Philadelphia Neurodevelopmental Cohort: A publicly available resource for the study of normal and abnormal brain development in youth. NeuroImage 124: 1115-1119 (2016) - [j10]David R. Roalf, Megan Quarmley, Mark A. Elliott, Theodore D. Satterthwaite
The impact of quality assurance assessment on diffusion tensor imaging outcomes in a large-scale population-based cohort. NeuroImage 125: 903-919 (2016) - [c1]Dokyoon Kim, Anastasia Lucas, Joseph Glessner, Shefali S. Verma, Yukiko Bradford, Ruowang Li, Alex T. Frase, Hakon Hakonarson, Peggy L. Peissig, Murray H. Brilliant, Marylyn D. Ritchie:
Biofilter as a Functional Annotation Pipeline for Common and Rare Copy Number Burden. PSB 2016: 357-368 - 2015
- [j9]Rishika De, Shefali S. Verma, Fotios Drenos
Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR). BioData Min. 8: 41 (2015) - 2014
- [j8]Theodore D. Satterthwaite
Neuroimaging of the Philadelphia Neurodevelopmental Cohort. NeuroImage 86: 544-553 (2014) - 2013
- [j7]Theodore D. Satterthwaite
An improved framework for confound regression and filtering for control of motion artifact in the preprocessing of resting-state functional connectivity data. NeuroImage 64: 240-256 (2013) - [j6]Theodore D. Satterthwaite
Heterogeneous impact of motion on fundamental patterns of developmental changes in functional connectivity during youth. NeuroImage 83: 45-57 (2013) - 2012
- [j5]Theodore D. Satterthwaite
Impact of in-scanner head motion on multiple measures of functional connectivity: Relevance for studies of neurodevelopment in youth. NeuroImage 60(1): 623-632 (2012) - [j4]Theodore D. Satterthwaite
Being right is its own reward: Load and performance related ventral striatum activation to correct responses during a working memory task in youth. NeuroImage 61(3): 723-729 (2012) - 2011
- [j3]Hongbo M. Xie
Mitochondrial Genome Sequence Analysis: A custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy. BMC Bioinform. 12: 402 (2011)
2000 – 2009
- 2009
- [j2]Mingyao Li, Kai Wang, Struan F. A. Grant
ATOM: a powerful gene-based association test by combining optimally weighted markers. Bioinform. 25(4): 497-503 (2009) - [j1]Zhi Wei
Multiple testing in genome-wide association studies via hidden Markov models. Bioinform. 25(21): 2802-2808 (2009)
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