Kinga M Bujakowska

12PUBLICATIONS
196CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Sensory systemsNeurology and neuromuscular diseasesPowder and particle technologyNeurogenetics
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Publications (12)

|May 26, 2026
Paired DNA and RNA sequencing uncovers common and rare variation regulating human retinal gene expression.

|Jan 09, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Jan 11, 2025
Optimized Prime Editing of Human Induced Pluripotent Stem Cells to Efficiently Generate Isogenic Models of Mendelian Diseases.

Rodrigo Cerna-Chavez, Alba Ortega-Gasco, Hafiz Muhammad Azhar Baig

|Nov 08, 2024
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.

Riccardo Sangermano, Priya Gupta, Cherrell Price

|May 27, 2024
Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease.

Blake M Hauser, Yuyang Luo, Anusha Nathan

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Frequent Collaborators

4 joint publications

Rachel M Huckfeldt

3 joint publications

Carlo Rivolta

3 joint publications

Jamie M Ellingford

2 joint publications

Suzanne E de Bruijn