Search Results - Bujakowska, Kinga M.

Moving Towards PDE6A Gene Supplementation Therapy by Bujakowska, Kinga M., Comander, Jason

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Photoreceptor Cilia and Retinal Ciliopathies by Bujakowska, Kinga M., Liu, Qin, Pierce, Eric A.

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Changes in extracellular matrix cause RPE cells to make basal deposits and activate the alternative complement pathway by Fernandez-Godino, Rosario, Bujakowska, Kinga M, Pierce, Eric A

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Ift172 conditional knock-out mice exhibit rapid retinal degeneration and protein trafficking defects by Gupta, Priya R, Pendse, Nachiket, Greenwald, Scott H, Leon, Mihoko, Liu, Qin, Pierce, Eric A, Bujakowska, Kinga M

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The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA by 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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Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy by 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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Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B by Khateb, Samer, Nassisi, Marco, Bujakowska, Kinga M., Méjécase, Cécile, Condroyer, Christel, Antonio, Aline, Foussard, Marine, Démontant, Vanessa, Mohand-Saïd, Saddek, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle

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A hidden structural variation in a known IRD gene: a cautionary tale of two new disease candidate genes by 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 by 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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Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases by Audo, Isabelle, Bujakowska, Kinga M, Léveillard, Thierry, Mohand-Saïd, Saddek, Lancelot, Marie-Elise, Germain, Aurore, Antonio, Aline, Michiels, Christelle, Saraiva, Jean-Paul, Letexier, Mélanie, Sahel, José-Alain, Bhattacharya, Shomi S, Zeitz, Christina

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Copy Number Variation Is An Important Contributor to the Genetic Causality of Inherited Retinal Degenerations by 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 by 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 by 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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A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT by Rose, Anna M., Shah, Amna Z., Alfano, Giovanna, Bujakowska, Kinga M., Barker, Amy F., Robertson, J Louis, Rahman, Sufia, Sánchez, Lourdes Valdés, Diaz-Corrales, Francisco J., Chakarova, Christina F., Krishna, Abhay, Bhattacharya, Shomi S.

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Targeted Exon Sequencing in Usher Syndrome Type I by 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 by 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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Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene by Ba-Abbad, Rola, Leys, Monique, Wang, Xinjing, Chakarova, Christina, Waseem, Naushin, Carss, Keren J., Raymond, F. Lucy, Bujakowska, Kinga M., Pierce, Eric A., Mahroo, Omar A., Mohamed, Moin D., Holder, Graham E., Hummel, Marybeth, Arno, Gavin, Webster, Andrew R.

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The Importance of Automation in Genetic Diagnosis: Lessons from Analyzing an Inherited Retinal Degeneration Cohort with the Mendelian Analysis Toolkit (MATK) by Zampaglione, Erin, Maher, Matthew, Place, Emily M., Wagner, Naomi E., DiTroia, Stephanie, Chao, Katherine R., England, Eleina, CMG, Broad, Catomeris, Andrew, Nassiri, Sherwin, Himes, Seraphim, Pagliarulo, Joey, Ferguson, Charles, Galdikaité-Braziené, Eglé, Cole, Brian, Pierce, Eric A., Bujakowska, Kinga M.

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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 by 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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WDR34, a candidate gene for non-syndromic rod-cone dystrophy by Solaguren-Beascoa, Maria, Bujakowska, Kinga M., Méjécase, Cécile, Emmenegger, Lisa, Orhan, Elise, Neuillé, Marion, Mohand-Saïd, Saddek, Condroyer, Christel, Lancelot, Marie-Elise, Michiels, Christelle, Demontant, Vanessa, Antonio, Aline, Letexier, Mélanie, Saraiva, Jean-Paul, Lonjou, Christine, Carpentier, Wassila, Léveillard, Thierry, Pierce, Eric A., Dollfus, Hélène, Sahel, José-Alain, Bhattacharya, Shomi S., Audo, Isabelle, Zeitz, Christina

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