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A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.

Publication: Journal Article

Joshi, Mugdha, Jacqueline Eagan, Nirav Desai, Stephanie Newton, Meghan Towne, Nicholas Marinakis, Kristyn Esteves, et al. 2014. “A Compound Heterozygous Mutation in GPD1 Causes Hepatomegaly, Steatohepatitis, and Hypertriglyceridemia.”. Eur J Hum Genet.

Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.

Publication: Journal Article

Landowski, Michael, Marie-Françoise O’Donohue, Christopher Buros, Roxanne Ghazvinian, Nathalie Montel-Lehry, Adrianna Vlachos, Colin Sieff, et al. 2013. “Novel Deletion of RPL15 Identified by Array-Comparative Genomic Hybridization in Diamond-Blackfan Anemia.”. Hum Genet 132 (11): 1265-74.

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.

Publication: Journal Article

Manzini, Chiara, Dimira Tambunan, Sean Hill, Tim Yu, Thomas Maynard, Erin Heinzen, Kevin Shianna, et al. 2012. “Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations As a Cause of Walker-Warburg Syndrome.”. Am J Hum Genet 91 (3): 541-7.

Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.

Publication: Journal Article

Majczenko, Karen, Ann Davidson, Sandra Camelo-Piragua, Pankaj Agrawal, Richard Manfready, Xingli Li, Sucheta Joshi, et al. 2012. “Dominant Mutation of CCDC78 in a Unique Congenital Myopathy With Prominent Internal Nuclei and Atypical Cores.”. Am J Hum Genet 91 (2): 365-71.

ES 240. Solid mechanics

Class

This course was taught by Prof. Vlassak, who gave an overall view of theory of elasticity, viscoelasticity, plasticity and FEM. 1. Elements of elasticity 2. Plane elasticity 3. PVW and FEM 4. Bending of plates 5. Viscoelasticity 6. Plasticity 7. Finite deformation

ES 183. Introduction to heat transfer

Class

This course was taught by Prof. Clarke. Course materials will be posted up soon.