Efficacy of an educational Web site for educating physicians about bioterrorism
Chung, Mandl, Shannon, and Fleisher. 2004. “Efficacy of an Educational Web Site for Educating Physicians about Bioterrorism”. Acad Emerg Med 11: 143-8.
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Integrating medical informatics and health services research: the need for dual training at the clinical health systems and policy levels
Mandl, and Lee. 2002. “Integrating Medical Informatics and Health Services Research: The Need for Dual Training at the Clinical Health Systems and Policy Levels”. J Am Med Inform Assoc 9: 127-32.
Effects on breastfeeding of changes in maternity length-of-stay policy in a large health maintenance organization
Madden, Soumerai, Lieu, Mandl, Zhang, and Ross-Degnan. 2003. “Effects on Breastfeeding of Changes in Maternity Length-of-Stay Policy in a Large Health Maintenance Organization”. Pediatrics 111: 519-24.
Time series modeling for syndromic surveillance
Reis, and Mandl. 2003. “Time Series Modeling for Syndromic Surveillance”. BMC Med Inform Decis Mak 3: 2.
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia.
Gazda, Hanna, Milena Preti, Mee Rie Sheen, Marie-Françoise O’Donohue, Adrianna Vlachos, Stella Davies, Antonis Kattamis, et al. 2012. “Frameshift Mutation in P53 Regulator RPL26 Is Associated With Multiple Physical Abnormalities and a Specific Pre-Ribosomal RNA Processing Defect in Diamond-Blackfan Anemia.”. Hum Mutat 33 (7): 1037-44.
Ddx18 is essential for cell-cycle progression in zebrafish hematopoietic cells and is mutated in human AML.
Payne, Elspeth, Niccolò Bolli, Jennifer Rhodes, Omar Abdel-Wahab, Ross Levine, Cyrus Hedvat, Richard Stone, et al. 2011. “Ddx18 Is Essential for Cell-Cycle Progression in Zebrafish Hematopoietic Cells and Is Mutated in Human AML.”. Blood 118 (4): 903-15.
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.
Boria, Ilenia, Emanuela Garelli, Hanna Gazda, Anna Aspesi, Paola Quarello, Elisa Pavesi, Daniela Ferrante, et al. 2010. “The Ribosomal Basis of Diamond-Blackfan Anemia: Mutation and Database Update.”. Hum Mutat 31 (12): 1269-79.
Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.
Bennett, Richard, Hal Schneider, Elicia Estrella, Stephanie Burgess, Andrew Cheng, Caitlin Barrett, Va Lip, et al. 2009. “Automated DNA Mutation Detection Using Universal Conditions Direct Sequencing: Application to Ten Muscular Dystrophy Genes.”. BMC Genet 10: 66.
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
Laing, Nigel, Danielle Dye, Carina Wallgren-Pettersson, Gabriele Richard, Nicole Monnier, Suzanne Lillis, Thomas Winder, et al. 2009. “Mutations and Polymorphisms of the Skeletal Muscle Alpha-Actin Gene (ACTA1).”. Hum Mutat 30 (9): 1267-77.
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
Gazda, Hanna, Mee Rie Sheen, Adrianna Vlachos, Valerie Choesmel, Marie-Françoise O’Donohue, Hal Schneider, Natasha Darras, et al. 2008. “Ribosomal Protein L5 and L11 Mutations Are Associated With Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients.”. Am J Hum Genet 83 (6): 769-80.