Selected Publications

Sohela Shah, Kasmintan A Schrader, Esmé Waanders, Andrew E Timms, Joseph Vijai, Cornelius Miething, Jeremy Wechsler, Jun Yang, James Hayes, Robert J Klein, Jinghui Zhang, Lei Wei, Gang Wu, Michael Rusch, Panduka Nagahawatte, Jing Ma, Shann-Ching Chen, Guangchun Song, Jinjun Cheng, Paul Meyers, Deepa Bhojwani, Suresh Jhanwar, Peter Maslak, Martin Fleisher, Jason Littman, Lily Offit, Rohini Rau-Murthy, Megan Harlan Fleischut, Marina Corines, Rajmohan Murali, Xiaoni Gao, Christopher Manschreck, Thomas Kitzing, Vundavalli V Murty, Susana Raimondi, Roland P Kuiper, Annet Simons, Joshua D Schiffman, Kenan Onel, Sharon E Plon, David Wheeler, Deborah Ritter, David S Ziegler, Kathy Tucker, Rosemary Sutton, Georgia Chenevix-Trench, Jun Li, David G Huntsman, Samantha Hansford, Janine Senz, Thomas Walsh, Ming Lee, Christopher N Hahn, Kathryn Roberts, Mary-Claire King, Sarah M Lo, Ross L Levine, Agnes Viale, Nicholas D Socci, Katherine L Nathanson, Hamish S Scott, Mark Daly, Steven M Lipkin, Scott W Lowe, James R Downing, David Altshuler, John T Sandlund, Marshall S Horwitz, Charles G Mullighan, Kenneth Offit: A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nat Genet 45(10): 1226-31, Oct 2013.

Lo SM, Choi M, Liu J, Jain D, Boot RG, Kallemeijn WW, Aerts JM, Pashankar F, Kupfer GM, Mane S, Lifton RP, Mistry PK: Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematological malignancy phenotype by individual genome analysis. Blood 119(20): 4731-40, May 2012.

Lo SM, Liu J, Chen F, Pastores GM, Knowles J, Boxer M, Aleck K, Mistry PK: Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy. J Inherit Metab Dis 34(3): 643-50, Jun 2011.

Lo SM, McNamara J, Seashore MR, Mistry PK.: Misdiagnosis of Niemann-Pick Disease type C as Gaucher Disease: lack of response to macrophage-targeted glucocerebrosidase enzyme replacement therapy. J Inherit Metab Dis 33(3): 429–433, Sept 2010.

Lo SM, Stein P, Mullaly S, Bar M, Jain D, Pastores GM, Mistry PK.: Expanding spectrum of the association between type 1 Gaucher disease and cancers: a series of patients with up to 3 sequential cancers of multiple types – correlation with genotype and phenotype. Am J Hematol 85(5): 340-5, May 2010.

Lo S, Sharif I, Ozuah PO: Health literacy among English-speaking parents in a poor urban setting. J Health Care Poor Underserved 17(3): 504-11, Aug 2006.

Sharif I, Lo S, Ozuah PO.: Availability of Spanish prescription labels. J Health Care Poor Underserved 17(1): 65-9, Feb 2006.

Zelcer S, Kellick M, Wexler LH, Shi W, Sankaran M, Lo S, Healey J, Huvos AG, Meyers PA, Gorlick R: Methotrexate levels and outcome in osteosarcoma. Pediatric Blood Cancer 44(7): 638-42, Jun 2005.