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Whole Exome Sequencing Identifies RAI1 Mutation in a Morbidly Obese Child Diagnosed With ROHHAD Syndrome.

Publication: Journal Article

Thaker, Vidhu, Kristyn Esteves, Meghan Towne, Catherine Brownstein, Philip James, Laura Crowley, Joel Hirschhorn, et al. 2015. “Whole Exome Sequencing Identifies RAI1 Mutation in a Morbidly Obese Child Diagnosed With ROHHAD Syndrome.”. J Clin Endocrinol Metab 100 (5): 1723-30.

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene.

Publication: Journal Article

Shelton, Diane, Branden Rider, Georgina Child, Sophia Tzannes, Ling Guo, Behzad Moghadaszadeh, Emily Troiano, Bianca Haase, Claire Wade, and Alan Beggs. 2015. “X-Linked Myotubular Myopathy in Rottweiler Dogs Is Caused by a Missense Mutation in Exon 11 of the MTM1 Gene.”. Skelet Muscle 5 (1): 1.

Mutation update: the spectra of nebulin variants and associated myopathies.

Publication: Journal Article

Lehtokari, Vilma-Lotta, Kirsi Kiiski, Sarah Sandaradura, Jocelyn Laporte, Pauliina Repo, Jennifer Frey, Kati Donner, et al. 2014. “Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies.”. Hum Mutat 35 (12): 1418-26.

SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.

Publication: Journal Article

Agrawal, Pankaj, Christopher Pierson, Mugdha Joshi, Xiaoli Liu, Gianina Ravenscroft, Behzad Moghadaszadeh, Tiffany Talabere, et al. 2014. “SPEG Interacts With Myotubularin, and Its Deficiency Causes Centronuclear Myopathy With Dilated Cardiomyopathy.”. Am J Hum Genet 95 (2): 218-26.

Kelch proteins: emerging roles in skeletal muscle development and diseases.

Publication: Journal Article

Gupta, Vandana, and Alan Beggs. 2014. “Kelch Proteins: Emerging Roles in Skeletal Muscle Development and Diseases.”. Skelet Muscle 4: 11.

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.

Publication: Journal Article

Marttila, Minttu, Vilma-Lotta Lehtokari, Steven Marston, Tuula Nyman, Christine Barnerias, Alan Beggs, Enrico Bertini, et al. 2014. “Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies.”. Hum Mutat 35 (7): 779-90.

Bio

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Xu is a Principal Investigator in the Division of Gastroenterology, Hepatology and Nutrition, at the department of Pediatrics of Boston Children’s Hospital. He is a member of faculty at Harvard Medical School. Dr. Zhou earned a B.S. from Peking University studying viral capsule protein of Hepatitis...

Career Narrative

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After graduating from secondary school, I went to Istanbul Ataturk Science High School (1993-1996). I double-majored in Molecular Biology & Genetics and Chemistry at the Bogazici University, Istanbul, and graduated honour degree with Distinction and the Departmental Citation. I received my Ph.D. in...

Biography

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Curriculum Vitae Graduate Student, Rubin Lab, Harvard School of Public Health, 2009-2013 Medical Student, Harvard Medical School, 2007 - 2015

Biography

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Curriculum Vitae Dr. Ostrovsky is a practicing physician and social entrepreneur who leads Care at Hand's executive management and strategic vi sion. He has led teams at the World Health Organization, United States Senate, and San Francisco Health Department toward health system strengthening...