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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 MB Consugar, D Navarro-Gomez, EM Place, KM Bujakowska, ME Sousa, ... Genetics in Medicine 17 (4), 253-261, 2015 | 245 | 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 | 206 | 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 | 195 | 2012 |
| Photoreceptor cilia and retinal ciliopathies KM Bujakowska, Q Liu, EA Pierce Cold Spring Harbor perspectives in biology 9 (10), a028274, 2017 | 166 | 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 | 166 | 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 | 147 | 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 | 144 | 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 | 99 | 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 | 93 | 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 | 90 | 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 | 75 | 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 | 70 | 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 | 70 | 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 | 67 | 2009 |
| 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 | 61 | 2017 |
| 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 | 61 | 2010 |
| 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 | 60 | 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 | 58 | 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 | 48 | 2008 |
