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Pfiffner, Oh, Miller, and Mandl. 2014. “ClinicalTrials.Gov As a Data Source for Semi-Automated Point-Of-Care Trial Eligibility Screening”. PLoS One 9: e111055.

Brownstein, Catherine, Alan Beggs, Nils Homer, Barry Merriman, Timothy Yu, Katherine Flannery, Elizabeth Dechene, et al. 2014. “An International Effort towards Developing Standards for Best Practices in Analysis, Interpretation and Reporting of Clinical Genome Sequencing Results in the CLARITY Challenge.”. Genome Biol 15 (3): R53.

Joshi, Mugdha, Jacqueline Eagan, Nirav Desai, Stephanie Newton, Meghan Towne, Nicholas Marinakis, Kristyn Esteves, et al. 2014. “A Compound Heterozygous Mutation in GPD1 Causes Hepatomegaly, Steatohepatitis, and Hypertriglyceridemia.”. Eur J Hum Genet.

Landowski, Michael, Marie-Françoise O’Donohue, Christopher Buros, Roxanne Ghazvinian, Nathalie Montel-Lehry, Adrianna Vlachos, Colin Sieff, et al. 2013. “Novel Deletion of RPL15 Identified by Array-Comparative Genomic Hybridization in Diamond-Blackfan Anemia.”. Hum Genet 132 (11): 1265-74.

Manzini, Chiara, Dimira Tambunan, Sean Hill, Tim Yu, Thomas Maynard, Erin Heinzen, Kevin Shianna, et al. 2012. “Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations As a Cause of Walker-Warburg Syndrome.”. Am J Hum Genet 91 (3): 541-7.

Majczenko, Karen, Ann Davidson, Sandra Camelo-Piragua, Pankaj Agrawal, Richard Manfready, Xingli Li, Sucheta Joshi, et al. 2012. “Dominant Mutation of CCDC78 in a Unique Congenital Myopathy With Prominent Internal Nuclei and Atypical Cores.”. Am J Hum Genet 91 (2): 365-71.

Weitzman, Kelemen, Quinn, Eggleston, and Mandl. 2013. “Participatory Surveillance of Hypoglycemia and Harms in an Online Social Network”. JAMA Intern Med 173: 345-51.

Natter, Quan, Ortiz, Bousvaros, Ilowite, Inman, Marsolo, et al. 2013. “An I2b2-Based, Generalizable, Open Source, Self-Scaling Chronic Disease Registry”. J Am Med Inform Assoc 20: 172-9.

Mandl, and Kohane. 2012. “Escaping the EHR Trap--the Future of Health IT”. N Engl J Med 366: 2240-2.

Mandl, Mandel, Murphy, Bernstam, Ramoni, Kreda, McCoy, Adida, and Kohane. 2012. “The SMART Platform: Early Experience Enabling Substitutable Applications for Electronic Health Records”. J Am Med Inform Assoc 19: 597-603.