Ernest Turro, PhD

Locations

Hess CSM Building Floor 8 Room 119, 1470 Madison Ave, New York, NY, 10029

Publications

Selected Publications

• Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder. Andrea Accogli, Young N. Park, Guy M. Lenk, Mariasavina Severino, Marcello Scala, Jonas Denecke, Maja Hempel, Davor Lessel, Fanny Kortüm, Vincenzo Salpietro, Patrizia de Marco, Sara Guerrisi, Annalaura Torella, Vincenzo Nigro, Myriam Srour, Ernest Turro, Veerle Labarque, Kathleen Freson, Gianluca Piatelli, Valeria Capra, Jacob O. Kitzman, Miriam H. Meisler. Genetics in Medicine
• A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease. Felix Richter, Kayleigh D. Rutherford, Anisha J. Cooke, Malorie Meshkati, Vanessa Eddy-Abrams, Daniel Greene, Jordana Kosowsky, Yeaji Park, Surabhi Aggarwal, Rebecca J. Burke, Weili Chang, Jillian Connors, Peter J. Giannone, Thomas Hays, Divya Khattar, Mark Polak, Liana Senaldi, Matthew Smith-Raska, Shanthy Sridhar, Laurie Steiner, Jonathan R. Swanson, Kate A. Tauber, Mafalda Barbosa, Katherine F. Guttmann, Ernest Turro. American Journal of Kidney Diseases
• A signature of platelet reactivity in CBC scattergrams reveals genetic predictors of thrombotic disease risk. Hippolyte Verdier, Patrick Thomas, Joana Batista, Carly Kempster, Harriet McKinney, Nicholas Gleadall, John Danesh, Andrew Mumford, Johan W.M. Heemskerk, Willem H. Ouwehand, Kate Downes, William J. Astle, Ernest Turro. Blood