Kinga Bujakowska
Kinga Bujakowska
Massachusetts Eye and Ear Infirmary, Harvard Medical School
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TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness
I Audo, S Kohl, BP Leroy, FL Munier, X Guillonneau, S Mohand-Saïd, ...
The American Journal of Human Genetics 85 (5), 720-729, 2009
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing
MB Consugar, D Navarro-Gomez, EM Place, KM Bujakowska, ME Sousa, ...
Genetics in Medicine 17 (4), 253-261, 2015
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases
I Audo, KM Bujakowska, T Léveillard, S Mohand-Saïd, ME Lancelot, ...
Orphanet journal of rare diseases 7, 1-17, 2012
CRB1 mutations in inherited retinal dystrophies
K Bujakowska, I Audo, S Mohand‐Saïd, ME Lancelot, A Antonio, ...
Human mutation 33 (2), 306-315, 2012
Photoreceptor cilia and retinal ciliopathies
KM Bujakowska, Q Liu, EA Pierce
Cold Spring Harbor perspectives in biology 9 (10), a028274, 2017
Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome
KM Bujakowska, Q Zhang, AM Siemiatkowska, Q Liu, E Place, MJ Falk, ...
Human molecular genetics 24 (1), 230-242, 2015
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness
C Zeitz, SG Jacobson, CP Hamel, K Bujakowska, M Neuillé, E Orhan, ...
The American Journal of Human Genetics 92 (1), 67-75, 2013
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness
I Audo, K Bujakowska, E Orhan, CM Poloschek, S Defoort-Dhellemmes, ...
The American Journal of Human Genetics 90 (2), 321-330, 2012
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy
CF Chakarova, MG Papaioannou, H Khanna, I Lopez, N Waseem, A Shah, ...
The American Journal of Human Genetics 81 (5), 1098-1103, 2007
Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration
JJ Graziotto, MH Farkas, K Bujakowska, BM Deramaudt, Q Zhang, ...
Investigative ophthalmology & visual science 52 (1), 190-198, 2011
Special issue introduction: inherited retinal disease: novel candidate genes, genotype–phenotype correlations, and inheritance models
FPM Cremers, CJF Boon, K Bujakowska, C Zeitz
Genes 9 (4), 215, 2018
Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium
MH Farkas, DS Lew, ME Sousa, K Bujakowska, J Chatagnon, ...
The American journal of pathology 184 (10), 2641-2652, 2014
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations
E Zampaglione, B Kinde, EM Place, D Navarro-Gomez, M Maher, ...
Genetics in Medicine 22 (6), 1079-1087, 2020
Changes in extracellular matrix cause RPE cells to make basal deposits and activate the alternative complement pathway
R Fernandez-Godino, KM Bujakowska, EA Pierce
Human molecular genetics 27 (1), 147-159, 2018
Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP)
K Bujakowska, C Maubaret, CF Chakarova, N Tanimoto, SC Beck, E Fahl, ...
Investigative ophthalmology & visual science 50 (12), 5927-5933, 2009
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports
I Audo, K Bujakowska, S Mohand-Saïd, ME Lancelot, ...
BMC medical genetics 11, 1-9, 2010
Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations
KM Bujakowska, R Fernandez-Godino, E Place, M Consugar, ...
Genetics in Medicine 19 (6), 643-651, 2017
Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB)
M Neuillé, S El Shamieh, E Orhan, C Michiels, A Antonio, ME Lancelot, ...
PloS one 9 (3), e90342, 2014
The CXC-chemokine CXCL4 interacts with integrins implicated in angiogenesis
S Aidoudi, K Bujakowska, N Kieffer, A Bikfalvi
PLoS One 3 (7), e2657, 2008
Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31
SE Wilkie, V Vaclavik, H Wu, K Bujakowska, CF Chakarova, ...
Molecular vision 14, 683, 2008
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