Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa

Por Bujakowska, Kinga M., White, Joseph, Place, Emily, Consugar, Mark, Comander, Jason
Publicado no PLoS One (2015)

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

Por 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
Publicado em 2012

A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT

Por 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.
Publicado no J Mol Genet Med (2013)

Targeted Exon Sequencing in Usher Syndrome Type I

Por 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.
Publicado no Invest Ophthalmol Vis Sci (2014)

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

Por 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.
Publicado no Genet Med (2014)

Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome

Por Bujakowska, Kinga M., Zhang, Qi, Siemiatkowska, Anna M., Liu, Qin, Place, Emily, Falk, Marni J., Consugar, Mark, Lancelot, Marie-Elise, Antonio, Aline, Lonjou, Christine, Carpentier, Wassila, Mohand-Saïd, Saddek, den Hollander, Anneke I., Cremers, Frans P.M., Leroy, Bart P., Gai, Xiaowu, Sahel, José-Alain, van den Born, L. Ingeborgh, Collin, Rob W.J., Zeitz, Christina, Audo, Isabelle, Pierce, Eric A.
Publicado no Hum Mol Genet (2015)