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1

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

Isabelle Audo, Kinga M Bujakowska, Thierry Léveillard, Saddek Mohand-Saïd, Marie-Elise Lancelot, Aurore Germain, Aline Antonio, Christelle Michiels, Jean-Paul Saraiva, Mélanie Letexier, José-Alain Sah

Journal:

Orphanet Journal of Rare Diseases

Année:

2012

Langue:

english

Fichier:

PDF, 551 KB

english, 2012

2

CRB1 mutations in inherited retinal dystrophies

Kinga Bujakowska, Isabelle Audo, Saddek Mohand-Saïd, Marie-Elise Lancelot, Aline Antonio, Aurore Germain, Thierry Léveillard, Mélanie Letexier, Jean-Paul Saraiva, Christine Lonjou, Wassila Carpentier,

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 446 KB

english, 2012

3

Prevalence and novelty ofPRPF31mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

Isabelle Audo, Kinga Bujakowska, Saddek Mohand-Saïd, Marie-Elise Lancelot, Veselina Moskova-Doumanova, Naushin H Waseem, Aline Antonio, José-Alain Sahel, Shomi S Bhattacharya, Christina Zeitz

Journal:

BMC Medical Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 920 KB

english, 2010

4

TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

Isabelle Audo, Susanne Kohl, Bart P. Leroy, Francis L. Munier, Xavier Guillonneau, Saddek Mohand-Saïd, Kinga Bujakowska, Emeline F. Nandrot, Birgit Lorenz, Markus Preising, Ulrich Kellner, Agnes B. Re

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 760 KB

english, 2009

5

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

Isabelle Audo, Kinga Bujakowska, Elise Orhan, Charlotte M. Poloschek, Sabine Defoort-Dhellemmes, Isabelle Drumare, Susanne Kohl, Tien D. Luu, Odile Lecompte, Eberhart Zrenner, Marie-Elise Lancelot, Al

Journal:

The American Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 828 KB

english, 2012

6

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

Isabelle Audo, Kinga Bujakowska, Elise Orhan, Charlotte M. Poloschek, Sabine Defoort-Dhellemmes, Isabelle Drumare, Susanne Kohl, Tien D. Luu, Odile Lecompte, Eberhart Zrenner, Marie-Elise Lancelot, Al

Journal:

The American Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 37 KB

english, 2012

7

Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy

Christina F. Chakarova, Myrto G. Papaioannou, Hemant Khanna, Irma Lopez, Naushin Waseem, Amna Shah, Torsten Theis, James Friedman, Cecilia Maubaret, Kinga Bujakowska, Brotati Veraitch, Mai M. Abd El-A

Journal:

The American Journal of Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 3.33 MB

english, 2007

8

Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness

Zeitz, Christina, Jacobson, Samuel G., Hamel, Christian P., Bujakowska, Kinga, Neuillé, Marion, Orhan, Elise, Zanlonghi, Xavier, Lancelot, Marie-Elise, Michiels, Christelle, Schwartz, Sharon B., Bocqu

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 738 KB

english, 2013

9

Mutations in Pre-mRNA Processing Factors 3, 8, and 31 Cause Dysfunction of the Retinal Pigment Epithelium

Farkas, Michael H., Lew, Deborah S., Sousa, Maria E., Bujakowska, Kinga, Chatagnon, Jonathan, Bhattacharya, Shomi S., Pierce, Eric A., Nandrot, Emeline F.

Journal:

The American Journal of Pathology

Année:

2014

Langue:

english

Fichier:

PDF, 2.25 MB

english, 2014

10

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing

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, Kather

Journal:

Genetics in Medicine

Année:

2015

Langue:

english

Fichier:

PDF, 914 KB

english, 2015

11

Further Insights Into GPR179: Expression, Localization, and Associated Pathogenic Mechanisms Leading to Complete Congenital Stationary Night Blindness

Orhan, Elise, Prézeau, Laurent, El Shamieh, Said, Bujakowska, Kinga M., Michiels, Christelle, Zagar, Yvrick, Vol, Claire, Bhattacharya, Shomi S., Sahel, José-Alain, Sennlaub, Florian, Audo, Isabelle,

Journal:

Investigative Opthalmology & Visual Science

Année:

2013

Langue:

english

Fichier:

PDF, 749 KB

english, 2013

12

Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations

Bujakowska, Kinga M., Fernandez-Godino, Rosario, Place, Emily, Consugar, Mark, Navarro-Gomez, Daniel, White, Joseph, Bedoukian, Emma C., Zhu, Xiaosong, Xie, Hongbo M., Gai, Xiaowu, Leroy, Bart P., Pie

Journal:

Genetics in Medicine

Année:

2016

Langue:

english

Fichier:

PDF, 1.94 MB

english, 2016

13

Photoreceptor Cilia and Retinal Ciliopathies

Bujakowska, Kinga M., Liu, Qin, Pierce, Eric A.

Journal:

Cold Spring Harbor Perspectives in Biology

Année:

2017

Langue:

english

Fichier:

PDF, 1.32 MB

english, 2017

14

Changes in extracellular matrix cause RPE cells to make basal deposits and activate the alternative complement pathway

Fernandez-Godino, Rosario, Bujakowska, Kinga M, Pierce, Eric A

Journal:

Human Molecular Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 1.78 MB

english, 2018

15

Ift172 conditional knock-out mice exhibit rapid retinal degeneration and protein trafficking defects

Gupta, Priya R, Pendse, Nachiket, Greenwald, Scott H, Leon, Mihoko, Liu, Qin, Pierce, Eric A, Bujakowska, Kinga M

Journal:

Human Molecular Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 2.30 MB

english, 2018

16

The CXC-Chemokine CXCL4 Interacts with Integrins Implicated in Angiogenesis

Aidoudi, Sallouha, Bujakowska, Kinga, Kieffer, Nelly, Bikfalvi, Andreas, Zwaka, Thomas

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 892 KB

english, 2008

17

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

Bujakowska, Kinga M., White, Joseph, Place, Emily, Consugar, Mark, Comander, Jason, Sharon, Dror

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 1.00 MB

english, 2015

18

Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype–Phenotype Correlations, and Inheritance Models

Cremers, Frans, Boon, Camiel, Bujakowska, Kinga, Zeitz, Christina

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 498 KB

english, 2018

19

Three Gene-Targeted Mouse Models of RNA Splicing Factor RP Show Late-Onset RPE and Retinal Degeneration

Graziotto, John J., Farkas, Michael H., Bujakowska, Kinga, Deramaudt, Bertrand M., Zhang, Qi, Nandrot, Emeline F., Inglehearn, Chris F., Bhattacharya, Shomi S., Pierce, Eric A.

Journal:

Investigative Ophthalmology & Visual Science

Année:

2011

Langue:

english

Fichier:

PDF, 3.35 MB

english, 2011

20

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1

Arno, Gavin, Hull, Sarah, Carss, Keren, Dev-Borman, Arundhati, Chakarova, Christina, Bujakowska, Kinga, van den Born, L. Ingeborgh, Robson, Anthony G., Holder, Graham E., Michaelides, Michel, Cremers,

Journal:

Investigative Opthalmology & Visual Science

Année:

2016

Langue:

english

Fichier:

PDF, 655 KB

english, 2016

21

Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene

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

Journal:

Investigative Opthalmology & Visual Science

Année:

2018

Langue:

english

Fichier:

PDF, 1.14 MB

english, 2018

22

Study of Gene-Targeted Mouse Models of Splicing Factor Gene Prpf31 Implicated in Human Autosomal Dominant Retinitis Pigmentosa (RP)

Bujakowska, Kinga, Maubaret, Cecilia, Chakarova, Christina F., Tanimoto, Naoyuki, Beck, Susanne C., Fahl, Edda, Humphries, Marian M., Kenna, Paul F., Makarov, Evgeny, Makarova, Olga, Paquet-Durand, Fr

Journal:

Investigative Ophthalmology & Visual Science

Année:

2009

Langue:

english

Fichier:

PDF, 1.47 MB

english, 2009

23

Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B

Khateb, Samer, Nassisi, Marco, Bujakowska, Kinga M., Méjécase, Cécile, Condroyer, Christel, Antonio, Aline, Foussard, Marine, Démontant, Vanessa, Mohand-Saïd, Saddek, Sahel, José-Alain, Zeitz, Christi

Journal:

JAMA Ophthalmology

Année:

2019

Langue:

english

Fichier:

PDF, 544 KB

english, 2019

24

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

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

Journal:

Human Molecular Genetics

Année:

2020

Langue:

english

Fichier:

PDF, 1.03 MB

english, 2020

25

Genetic Signature of Acute Lymphoblastic Leukemia and Netherton Syndrome Co-incidenceâFirst Report in the Literature

Skoczen, Szymon, Stepien, Konrad, Mlynarski, Wojciech, Centkowski, Piotr, Kwiecinska, Kinga, Korostynski, Michal, Piechota, Marcin, Wyrobek, Elzbieta, Moryl-Bujakowska, Angelina, Strojny, Wojciech, Re

Journal:

Frontiers in Oncology

Année:

2020

Langue:

english

Fichier:

PDF, 655 KB

english, 2020

26

WDR34 , a candidate gene for nonâsyndromic rodâcone dystrophy

SolagurenâBeascoa, Maria, Bujakowska, Kinga M., MÃ©jÃ©case, CÃ©cile, Emmenegger, Lisa, Orhan, Elise, NeuillÃ©, Marion, MohandâSaÃ¯d, Saddek, Condroyer, Christel, Lancelot, MarieâElise, Michiels,

Journal:

Clinical Genetics

Année:

2020

Fichier:

PDF, 3.46 MB

2020