Sökresultat - Navarro-Gomez, Daniel

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

Hämta fulltext Hämta fulltext Hämta fulltext

Allele-Specific CRISPR-Cas9 Genome Editing of the Single-Base P23H Mutation for Rhodopsin-Associated Dominant Retinitis Pigmentosa av 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

Hämta fulltext Hämta fulltext Hämta fulltext

Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier av 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

Hämta fulltext Hämta fulltext Hämta fulltext

A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families av 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

Hämta fulltext Hämta fulltext Hämta fulltext

NOD2 genetic variants and sarcoidosis-associated uveitis() av 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

Hämta fulltext Hämta fulltext Hämta fulltext

Association of genetic variants in RAB23 and ANXA11 with uveitis in sarcoidosis av 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

Hämta fulltext Hämta fulltext

Copy Number Variation Is An Important Contributor to the Genetic Causality of Inherited Retinal Degenerations av 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.

Hämta fulltext Hämta fulltext Hämta fulltext

Contribution of non-coding mutations to RPGRIP1-mediated inherited retinal degeneration av 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.

Hämta fulltext Hämta fulltext Hämta fulltext

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations av 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.

Hämta fulltext Hämta fulltext Hämta fulltext

Targeted Exon Sequencing in Usher Syndrome Type I av 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.

Hämta fulltext Hämta fulltext Hämta fulltext

Expanding the phenotypic spectrum in RDH12-associated retinal disease av 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.

Hämta fulltext Hämta fulltext Hämta fulltext

MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease av 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

Hämta fulltext Hämta fulltext Hämta fulltext

Whole Exome Sequencing Identification of Novel Candidate Genes in Patients with Proliferative Diabetic Retinopathy av 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.

Hämta fulltext Hämta fulltext Hämta fulltext

Panel-based Genetic Diagnostic Testing for Inherited Eye Diseases is Highly Accurate and Reproducible and More Sensitive for Variant Detection Than Exome Sequencing av 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.

Hämta fulltext Hämta fulltext Hämta fulltext

Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for t... av 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

Hämta fulltext Hämta fulltext Hämta fulltext