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Blood|June 23, 2017
Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleedingSarah K Westbury, Matthias Canault, Daniel Greene, et al.
Research and Practice in Thrombosis and Haemostasis|December 17, 2024
Efficacy, safety, and quality of life 4 years after valoctocogene roxaparvovec gene transfer for severe hemophilia A in the phase 3 GENEr8-1 trialAndrew D Leavitt, Johnny Mahlangu, Priyanka Raheja, et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology|July 12, 2020
Utilizing SEER Cancer Registries for Population-Based Cancer Survivor Epidemiologic Studies: A Feasibility StudyLisa Gallicchio, Joanne W Elena, Sarah Fagan, et al.
Journal of Thrombosis and Haemostasis : JTH|April 13, 2024
Three-year outcomes of valoctocogene roxaparvovec gene therapy for hemophilia ABella Madan, Margareth C Ozelo, Priyanka Raheja, et al.
Human Mutation|September 29, 2019
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variantsLoredana Bury, Karyn Megy, Jonathan C Stephens, et al.
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.
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.
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