List of works - Kinga Bujakowska

A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT.

scientific article

A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families

scientific article published on 03 February 2020

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

scientific article published on 29 June 2021

CRB1 mutations in inherited retinal dystrophies

scientific article published on 27 December 2011

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

scientific article published on 10 February 2020

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

scientific article published on 13 October 2016

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

scientific article

Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31.

scientific article

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

scientific article

Expanding the phenotypic spectrum in RDH12-associated retinal disease

scientific article published on 03 February 2020

Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness

scientific article

Ift172 conditional knockout mice exhibit rapid retinal degeneration and protein trafficking defects

scientific article published on 5 April 2018

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

scientific journal article

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

scientific article

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy

scientific article

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

scientific article

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing

scientific article

Photoreceptor Cilia and Retinal Ciliopathies

scientific article published on 13 March 2017

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

scientific article

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

scientific article published in September 2016

Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP).

scientific article

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness

scientific article

Targeted exon sequencing in Usher syndrome type I

scientific article

The CXC-chemokine CXCL4 interacts with integrins implicated in angiogenesis

scientific article

The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.

scientific article

Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration

scientific article

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

scientific article published in July 2012

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness

scientific article

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

scientific article

List of works by Kinga Bujakowska

A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT.

A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

CRB1 mutations in inherited retinal dystrophies

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

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

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31.

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

Expanding the phenotypic spectrum in RDH12-associated retinal disease

Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness

Ift172 conditional knockout mice exhibit rapid retinal degeneration and protein trafficking defects

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

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy

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

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing

Photoreceptor Cilia and Retinal Ciliopathies

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP).

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness

Targeted exon sequencing in Usher syndrome type I

The CXC-chemokine CXCL4 interacts with integrins implicated in angiogenesis

The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.

Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness