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

by Bujakowska, Kinga M., White, Joseph, Place, Emily, Consugar, Mark, Comander, Jason
Published 2015

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.

by Audo, Isabelle, Bujakowska, Kinga, Mohand-Saïd, Saddek, Tronche, Sophie, Lancelot, Marie-Elise, Antonio, Aline, Germain, Aurore, Lonjou, Christine, Carpentier, Wassila, Sahel, José-Alain, Bhattacharya, Shomi, Zeitz, Christina
Published 2011

Lrit3 Deficient Mouse (nob6): A Novel Model of Complete Congenital Stationary Night Blindness (cCSNB)

by Neuillé, Marion, El Shamieh, Said, Orhan, Elise, Michiels, Christelle, Antonio, Aline, Lancelot, Marie-Elise, Condroyer, Christel, Bujakowska, Kinga, Poch, Olivier, Sahel, José-Alain, Audo, Isabelle, Zeitz, Christina
Published 2014

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
Published 2012

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.
Published 2013

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.
Published 2014