Bilaketaren emaitzak - Place, Emily

Molecular Genetic Testing for Mitochondrial Disease: From One Generation to the Next nork McCormick, Elizabeth, Place, Emily, Falk, Marni J.

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Characterizing variants of unknown significance in rhodopsin: A functional genomics approach nork Wan, Aliete, Place, Emily, Pierce, Eric A., Comander, Jason

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Predictive value of genetic testing for inherited retinal diseases in patients with suspected atypical autoimmune retinopathy nork Stanwyck, Lynn K., Place, Emily M., Comander, Jason, Huckfeldt, Rachel M., Sobrin, Lucia

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Course of Ocular Function in PRPF31 Retinitis Pigmentosa nork Hafler, Brian P., Comander, Jason, DiFranco, Carol Weigel, Place, Emily M., Pierce, Eric A.

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Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites nork Clarke, Colleen, Xiao, Rui, Place, Emily, Zhang, Zhe, Sondheimer, Neal, Bennett, Michael, Yudkoff, Marc, Falk, Marni J.

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Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa nork Ballios, Brian G., Place, Emily M., Martinez-Velazquez, Luis, Pierce, Eric A., Comander, Jason I., Huckfeldt, Rachel M.

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Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts nork Schrier, Samantha A., Wong, Lee-Jun, Place, Emily, Ji, Jack Q., Pierce, Eric A., Golden, Jeffrey, Santi, Mariarita, Anninger, William, Falk, Marni J.

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The Genetic Basis of Pericentral Retinitis Pigmentosa—A Form of Mild Retinitis Pigmentosa nork Comander, Jason, Weigel-DiFranco, Carol, Maher, Matthew, Place, Emily, Wan, Aliete, Harper, Shyana, Sandberg, Michael A., Navarro-Gomez, Daniel, Pierce, Eric A.

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The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA nork Men, Clara J., Bujakowska, Kinga M., Comander, Jason, Place, Emily, Bedoukian, Emma C., Zhu, Xiaosong, Leroy, Bart P., Fulton, Anne B., Pierce, Eric A.

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Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum nork Huckfeldt, Rachel M., Grigorian, Florin, Place, Emily, Comander, Jason I., Vavvas, Demetrios, Young, Lucy H., Yang, Paul, Shurygina, Maria, Pierce, Eric A., Pennesi, Mark E.

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Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy nork Catomeris, Andrew J., Ballios, Brian G., Sangermano, Riccardo, Wagner, Naomi E., Comander, Jason I., Pierce, Eric A., Place, Emily M., Bujakowska, Kinga M., Huckfeldt, Rachel M.

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A hidden structural variation in a known IRD gene: a cautionary tale of two new disease candidate genes nork Scott, Hilary A., Larson, Anna, Rong, Shi Song, Mehrotra, Sudeep, Butcher, Rossano, Chao, Katherine R., Wiggs, Janey L., Place, Emily M., Pierce, Eric A., Bujakowska, Kinga M.

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A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families nork Bronstein, Revital, Capowski, Elizabeth E, Mehrotra, Sudeep, Jansen, Alex D, Navarro-Gomez, Daniel, Maher, Mathew, Place, Emily, Sangermano, Riccardo, Bujakowska, Kinga M, Gamm, David M, Pierce, Eric A

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A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression nork Falk, Marni J., Gai, Xiaowu, Shigematsu, Megumi, Vilardo, Elisa, Takase, Ryuichi, McCormick, Elizabeth, Christian, Thomas, Place, Emily, Pierce, Eric A., Consugar, Mark, Gamper, Howard B., Rossmanith, Walter, Hou, Ya-Ming

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Copy Number Variation Is An Important Contributor to the Genetic Causality of Inherited Retinal Degenerations nork Bujakowska, Kinga M., Fernandez-Godino, Rosario, Place, Emily, Cosugar, Mark, Navarro-Gomez, Daniel, White, Joseph, Bedoukian, Emma C., Zhu, Xiaosong, Xie, Hongbo M., Gai, Xiaowu, Leroy, Bart P., Pierce, Eric A.

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Contribution of non-coding mutations to RPGRIP1-mediated inherited retinal degeneration nork Jamshidi, Farzad, Place, Emily M., Mehrotra, Sudeep, Navarro-Gomez, Daniel, Maher, Mathew, Branham, Kari E., Valkanas, Elise, Cherry, Timothy J., Lek, Monkol, MacArthur, Daniel, Pierce, Eric A., Bujakowska, Kinga M.

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Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations nork Zampaglione, Erin, Kinde, Benyam, Place, Emily M., Navarro-Gomez, Daniel, Maher, Matthew, Jamshidi, Farzad, Nassiri, Sherwin, Mazzone, J. Alex, Finn, Caitlin, Schlegel, Dana, Comander, Jason, Pierce, Eric A., Bujakowska, Kinga M.

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Targeted Exon Sequencing in Usher Syndrome Type I nork Bujakowska, Kinga M., Consugar, Mark, Place, Emily, Harper, Shyana, Lena, Jaclyn, Taub, Daniel G., White, Joseph, Navarro-Gomez, Daniel, Weigel DiFranco, Carol, Farkas, Michael H., Gai, Xiaowu, Berson, Eliot L., Pierce, Eric A.

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Diagnostic genetic testing for patients with bilateral optic neuropathy and comparison of clinical features according to OPA1 mutation status nork Gaier, Eric D., Boudreault, Katherine, Nakata, Isao, Janessian, Maria, Skidd, Philip, DelBono, Elizabeth, Allen, Keri F., Pasquale, Louis R., Place, Emily, Cestari, Dean M., Stacy, Rebecca C., Rizzo, Joseph F., Wiggs, Janey L.

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Expanding the phenotypic spectrum in RDH12-associated retinal disease nork Scott, Hilary A., Place, Emily M., Ferenchak, Kevin, Zampaglione, Erin, Wagner, Naomi E., Chao, Katherine R., DiTroia, Stephanie P., Navarro-Gomez, Daniel, Mukai, Shizuo, Huckfeldt, Rachel M., Pierce, Eric A., Bujakowska, Kinga M.

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