Publications by authors named "Kinga Bujakowska"

39Publications

Moving Towards PDE6A Gene Supplementation Therapy.

JAMA Ophthalmol 2020 Oct 15. Epub 2020 Oct 15.

Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston.

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October 2020

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

Genet Med 2020 Jun 10;22(6):1079-1087. Epub 2020 Feb 10.

Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.

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June 2020

Expanding the phenotypic spectrum in RDH12-associated retinal disease.

Cold Spring Harb Mol Case Stud 2020 02 3;6(1). Epub 2020 Feb 3.

Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts 02114, USA.

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February 2020

Detection of Large Structural Variants Causing Inherited Retinal Diseases.

Adv Exp Med Biol 2019 ;1185:197-202

Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.

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February 2020

Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration.

Genet Med 2019 03 3;21(3):694-704. Epub 2018 Aug 3.

Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA.

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March 2019

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

Hum Mol Genet 2018 06;27(11):2012-2024

Department of Ophthalmology, Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA.

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June 2018

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

Genes (Basel) 2018 Apr 16;9(4). Epub 2018 Apr 16.

Sorbonne Université, INSERM, CNRS, Institut de la Vision, Department of Genetics, 17 rue Moreau, 75012 Paris, France.

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April 2018

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

Hum Mol Genet 2018 01;27(1):147-159

Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Ocular Genomics Institute, Boston, MA 02114, USA.

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January 2018

Photoreceptor Cilia and Retinal Ciliopathies.

Cold Spring Harb Perspect Biol 2017 Oct 3;9(10). Epub 2017 Oct 3.

Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts 02114.

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October 2017

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

Genet Med 2017 06 13;19(6):643-651. Epub 2016 Oct 13.

Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA.

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June 2017

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

PLoS One 2015 11;10(11):e0142614. Epub 2015 Nov 11.

Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, United States of America.

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June 2016

Targeted exon sequencing in Usher syndrome type I.

Invest Ophthalmol Vis Sci 2014 Dec 2;55(12):8488-96. Epub 2014 Dec 2.

Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, United States Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States.

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December 2014

Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium.

Am J Pathol 2014 Oct 8;184(10):2641-52. Epub 2014 Aug 8.

Vision Institute, INSERM, U968, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 968, CNRS, UMR_7210, Paris, France. Electronic address:

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October 2014

Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB).

PLoS One 2014 5;9(3):e90342. Epub 2014 Mar 5.

INSERM, U968, Paris, France; CNRS, UMR_7210, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris, France.

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January 2015