Curriculum Vitae
For an up to date CV, please see my LinkedIn profile here.
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Biography
I am a congenital cardiac surgeon based at Boston Children's Hospital. The three main aspects of my academic career are 1. delivery of excellent clinical care in an ethical, family-centric fashion 2. education of students, residents, fellows, nurses, ancillary health professionals 3. translational...
Clinical phenotype of X-linked myotubular myopathy in labrador retriever puppies.
Snead, Taylor, Kooij, Cosford, AH Beggs, and Shelton. 2015. “Clinical Phenotype of X-Linked Myotubular Myopathy in Labrador Retriever Puppies.”. J Vet Intern Med 29 (1): 254-60.
Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.
Agrawal, Pankaj, Mugdha Joshi, Nicholas Marinakis, Klaus Schmitz-Abe, Pedro Ciarlini, Jane Sargent, Kyriacos Markianos, Umberto De Girolami, David Chad, and Alan Beggs. 2014. “Expanding the Phenotype Associated With the NEFL Mutation: Neuromuscular Disease in a Family With Overlapping Myopathic and Neurogenic Findings.”. JAMA Neurol 71 (11): 1413-20.
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
Yuen, Michaela, Sarah Sandaradura, James Dowling, Alla Kostyukova, Natalia Moroz, Kate Quinlan, Vilma-Lotta Lehtokari, et al. 2014. “Leiomodin-3 Dysfunction Results in Thin Filament Disorganization and Nemaline Myopathy.”. J Clin Invest 124 (11): 4693-708.
Altered translation of GATA1 in Diamond-Blackfan anemia.
Ludwig, Leif, Hanna Gazda, Jennifer Eng, Stephen Eichhorn, Prathapan Thiru, Roxanne Ghazvinian, Tracy George, et al. 2014. “Altered Translation of GATA1 in Diamond-Blackfan Anemia.”. Nat Med 20 (7): 748-53.
Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice.
Lawlor, Michael, Marissa Viola, Hui Meng, Rachel Edelstein, Fujun Liu, Ke Yan, Elizabeth Luna, et al. 2014. “Differential Muscle Hypertrophy Is Associated With Satellite Cell Numbers and Akt Pathway Activation Following Activin Type IIB Receptor Inhibition in Mtm1 P.R69C Mice.”. Am J Pathol 184 (6): 1831-42.
Mitf is a master regulator of the v-ATPase forming an Mitf/v-ATPase/TORC1 control module for cellular homeostasis.
Zhang, Zhou, Ogmundsdottir, Möller, Siddaway, Larue, Hsing, et al. 2015. “Mitf Is a Master Regulator of the V-ATPase Forming an Mitf/V-ATPase/TORC1 Control Module for Cellular Homeostasis.”. J Cell Sci.
Bio
Dr. Kong is Assistant Professor at Harvard Medical School and a faculty member of the Computational Health Informatics Program. Dr. Kong has a deep interest in precision medicine and translational genomics, with special focus on clinical whole genome sequencing (WGS) and autism spectrum disorder...
Biographical Note
Dr. Elissa R. Weitzman is Associate Professor of Pediatrics at Harvard Medical School and Adolescent/Young Adult Medicine at Boston Children's Hospital, and Faculty in the Computational Health Informatics Program. A social-behavioral scientist and psychiatric epidemiologist, her research focuses on...