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Cold Spring Harbor Perspectives in Biology
|
March 15, 2017
Photoreceptor Cilia and Retinal Ciliopathies
Kinga M Bujakowska, Qin Liu, Eric A Pierce
Research Square
|
November 24, 2025
Elucidating photoreceptor gene function with in-vivo CRISPR knock-out perturbation assay
Riccardo Sangermano, Egle Galdikaite-Braziene, Kinga M Bujakowska
Advances in Experimental Medicine and Biology
|
July 13, 2023
Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes
Riccardo Sangermano, Egle Galdikaité-Braziené, Kinga M Bujakowska
Human Molecular Genetics
|
November 3, 2017
Changes in extracellular matrix cause RPE cells to make basal deposits and activate the alternative complement pathway
Rosario Fernandez-Godino, Kinga M Bujakowska, Eric A Pierce
Molecular Aspects of Medicine
|
February 17, 2026
CRISPR as a therapeutic tool for inherited retinal degenerations: Advances, challenges, and future directions
Egle Galdikaite-Braziene, Raulas Krušnauskas, Emiline Henderson, et al.
Plos One
|
November 13, 2015
Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa
Kinga M Bujakowska, Joseph White, Emily Place, et al.
Advances in Experimental Medicine and Biology
|
February 10, 2025
Novel Potentially Pathogenic Variants in TBC1D32 Cause Non-syndromic Rod-Cone Degeneration
Riccardo Sangermano, Emily M Place, Eric A Pierce, et al.
Human Molecular Genetics
|
April 17, 2018
Ift172 conditional knock-out mice exhibit rapid retinal degeneration and protein trafficking defects
Priya R Gupta, Nachiket Pendse, Scott H Greenwald, et al.
Advances in Experimental Medicine and Biology
|
December 30, 2019
Detection of Large Structural Variants Causing Inherited Retinal Diseases
Stephen P Daiger, Lori S Sullivan, Sara J Bowne, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 2, 2025
Paired DNA and RNA sequencing uncovers common and rare genetic variants regulating gene expression in the human retina
Jacob Sampson, Ayellet V Segrè, Kinga M Bujakowska, et al.
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of 7
Search research articles
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Showing results (1-10 of 63) with videos related to
Sort By:
Page
of 7
Cold Spring Harbor Perspectives in Biology
|
March 15, 2017
Photoreceptor Cilia and Retinal Ciliopathies
Kinga M Bujakowska, Qin Liu, Eric A Pierce
Research Square
|
November 24, 2025
Elucidating photoreceptor gene function with in-vivo CRISPR knock-out perturbation assay
Riccardo Sangermano, Egle Galdikaite-Braziene, Kinga M Bujakowska
Advances in Experimental Medicine and Biology
|
July 13, 2023
Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes
Riccardo Sangermano, Egle Galdikaité-Braziené, Kinga M Bujakowska
Human Molecular Genetics
|
November 3, 2017
Changes in extracellular matrix cause RPE cells to make basal deposits and activate the alternative complement pathway
Rosario Fernandez-Godino, Kinga M Bujakowska, Eric A Pierce
Molecular Aspects of Medicine
|
February 17, 2026
CRISPR as a therapeutic tool for inherited retinal degenerations: Advances, challenges, and future directions
Egle Galdikaite-Braziene, Raulas Krušnauskas, Emiline Henderson, et al.
Plos One
|
November 13, 2015
Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa
Kinga M Bujakowska, Joseph White, Emily Place, et al.
Advances in Experimental Medicine and Biology
|
February 10, 2025
Novel Potentially Pathogenic Variants in TBC1D32 Cause Non-syndromic Rod-Cone Degeneration
Riccardo Sangermano, Emily M Place, Eric A Pierce, et al.
Human Molecular Genetics
|
April 17, 2018
Ift172 conditional knock-out mice exhibit rapid retinal degeneration and protein trafficking defects
Priya R Gupta, Nachiket Pendse, Scott H Greenwald, et al.
Advances in Experimental Medicine and Biology
|
December 30, 2019
Detection of Large Structural Variants Causing Inherited Retinal Diseases
Stephen P Daiger, Lori S Sullivan, Sara J Bowne, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 2, 2025
Paired DNA and RNA sequencing uncovers common and rare genetic variants regulating gene expression in the human retina
Jacob Sampson, Ayellet V Segrè, Kinga M Bujakowska, et al.
Page
of 7