検索結果 - Navarro-Gomez, Daniel

The Genetic Basis of Pericentral Retinitis Pigmentosa—A Form of Mild Retinitis Pigmentosa 著者: 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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Allele-Specific CRISPR-Cas9 Genome Editing of the Single-Base P23H Mutation for Rhodopsin-Associated Dominant Retinitis Pigmentosa 著者: Li, Pingjuan, Kleinstiver, Benjamin P., Leon, Mihoko Y., Prew, Michelle S., Navarro-Gomez, Daniel, Greenwald, Scott H., Pierce, Eric A., Joung, J. Keith, Liu, Qin

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Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier 著者: Navarro-Gomez, Daniel, Leipzig, Jeremy, Shen, Lishuang, Lott, Marie, Stassen, Alphons P.M., Wallace, Douglas C., Wiggs, Janey L., Falk, Marni J., van Oven, Mannis, Gai, Xiaowu

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A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families 著者: 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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NOD2 genetic variants and sarcoidosis-associated uveitis() 著者: Davoudi, Samaneh, Navarro-Gomez, Daniel, Shen, Lishuang, Ung, Cindy, Ren, Aiai, Sullivan, Lynn, Kwong, Mindy, Janessian, Maria, Comander, Jason, Gai, Xiaowu, Lobo, Ann-Marie, Papaliodis, George N., Sobrin, Lucia

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Association of genetic variants in RAB23 and ANXA11 with uveitis in sarcoidosis 著者: Davoudi, Samaneh, Chang, Victoria S., Navarro-Gomez, Daniel, Stanwyck, Lynn K., Sevgi, Damla Duriye, Papavasileiou, Evangelia, Ren, Aiai, Uchiyama, Eduardo, Sullivan, Lynn, Lobo, Ann-Marie, Papaliodis, George N., Sobrin, Lucia

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Copy Number Variation Is An Important Contributor to the Genetic Causality of Inherited Retinal Degenerations 著者: 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 著者: 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 著者: 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 著者: 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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Expanding the phenotypic spectrum in RDH12-associated retinal disease 著者: 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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MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease 著者: Shen, Lishuang, Diroma, Maria Angela, Gonzalez, Michael, Navarro-Gomez, Daniel, Leipzig, Jeremy, Lott, Marie T., van Oven, Mannis, Wallace, Douglas C., Muraresku, Colleen Clarke, Zolkipli-Cunningham, Zarazuela, Chinnery, Patrick F., Attimonelli, Marcella, Zuchner, Stephan, Falk, Marni J., Gai, Xiaowu

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Whole Exome Sequencing Identification of Novel Candidate Genes in Patients with Proliferative Diabetic Retinopathy 著者: Ung, Cindy, Sanchez, Angie V., Shen, Lishuang, Davoudi, Samaneh, Ahmadi, Tina, Navarro-Gomez, Daniel, Chen, Ching J., Hancock, Heather, Penman, Alan, Hoadley, Suzanne, Consugar, Mark, Restrepo, Carlos, Shah, Vinay A., Arboleda-Velasquez, Joseph F., Sobrin, Lucia, Gai, Xiaowu, Kim, Leo A.

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Panel-based Genetic Diagnostic Testing for Inherited Eye Diseases is Highly Accurate and Reproducible and More Sensitive for Variant Detection Than Exome Sequencing 著者: Consugar, Mark B., Navarro-Gomez, Daniel, Place, Emily M., Bujakowska, Kinga M., Sousa, Maria E., Fonseca-Kelly, Zoë D., Taub, Daniel G., Janessian, Maria, Wang, Dan Yi, Au, Elizabeth D., Sims, Katherine B., Sweetser, David A., Fulton, Anne B., Liu, Qin, Wiggs, Janey L., Gai, Xiaowu, Pierce, Eric A.

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Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for t... 著者: Falk, Marni J., Shen, Lishuang, Gonzalez, Michael, Leipzig, Jeremy, Lott, Marie T., Stassen, Alphons P.M., Diroma, Maria Angela, Navarro-Gomez, Daniel, Yeske, Philip, Bai, Renkui, Boles, Richard G., Brilhante, Virginia, Ralph, David, DaRe, Jeana T., Shelton, Robert, Terry, Sharon, Zhang, Zhe, Copeland, William C., van Oven, Mannis, Prokisch, Holger, Wallace, Douglas C., Attimonelli, Marcella, Krotoski, Danuta, Zuchner, Stephan, Gai, Xiaowu

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