Rezultati pretrage - Navarro-Gomez, Daniel

The Genetic Basis of Pericentral Retinitis Pigmentosa—A Form of Mild Retinitis Pigmentosa od 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 od 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 od 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 od 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() od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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... od 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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