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Genome Medicine|May 8, 2015
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disordersSarah K Westbury, Ernest Turro, Daniel Greene, et al.
Science Translational Medicine|March 4, 2016
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologiesErnest Turro, Daniel Greene, Anouck Wijgaerts, et al.
Blood|February 26, 2016
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing lossSimon Stritt, Paquita Nurden, Ernest Turro, et al.
International Journal of Epidemiology|September 29, 2014
DataSHIELD: taking the analysis to the data, not the data to the analysisAmadou Gaye, Yannick Marcon, Julia Isaeva, et al.
The New England Journal of Medicine|July 19, 2013
Mutations in DSTYK and dominant urinary tract malformationsSimone Sanna-Cherchi, Rosemary V Sampogna, Natalia Papeta, et al.
Space Science Reviews|January 30, 2026
Comprehensive Observations of Magnetospheric Particle Acceleration, Sources, and Sinks (COMPASS): A Mission Concept to Explore the Extremes of Jupiter's MagnetosphereGeorge Clark, P Kollmann, J Kinnison, et al.
Brain : a Journal of Neurology|July 9, 2020
The emerging spectrum of COVID-19 neurology: clinical, radiological and laboratory findingsRoss W Paterson, Rachel L Brown, Laura Benjamin, et al.
American Journal of Human Genetics|November 20, 2012
Copy-number disorders are a common cause of congenital kidney malformationsSimone Sanna-Cherchi, Krzysztof Kiryluk, Katelyn E Burgess, et al.
Blood|April 17, 2016
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disordersIlenia Simeoni, Jonathan C Stephens, Fengyuan Hu, et al.
The New England Journal of Medicine|February 5, 2025
Endovascular Treatment of Stroke Due to Medium-Vessel OcclusionMayank Goyal, Johanna M Ospel, Aravind Ganesh, et al.
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