Publications by authors named "Emily S Doherty"

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Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
Filomena Pirozzi, Matthew Berkseth, Rylee Shear, Lorenzo Gonzalez, Andrew E Timms, Emily S Doherty

Brain· April 2022

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Diffuse Gastric Ganglioneuromatosis: Novel Presentation of Hamartoma Syndrome-Case Report and Review of Gastric Ganglioneuromatous Proliferations and a Novel Gene Mutation.
Alexander J Williams, Emily S Doherty, Michael H Hart, Douglas J Grider

Case Rep Med· March 2018

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Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
Johannes R Lemke, Kirsten Geider, Katherine L Helbig, Henrike O Heyne, Hannah Schütz, Emily S Doherty

Neurology· June 2016

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Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis).
Nneamaka Barbara Agochukwu, Benjamin D Solomon, Emily S Doherty, Maximilian Muenke

J Craniofac Surg· May 2012

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Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
Emily S Doherty, Felicitas Lacbawan, Donald W Hadley, Carmen Brewer, Christopher Zalewski

Am J Med Genet A· December 2007

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Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness.
Annette Feigenbaum, Ren-Kui Bai, Emily S Doherty, Haeyoung Kwon, Duanjun Tan

Am J Med Genet A· October 2006

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