K. Bujakowska

发表

De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment

W. Chung, I. Krantz, P. Hulick, 2019, European Journal of Human Genetics.

Panel-based Genetic Diagnostic Testing for Inherited Eye Diseases is Highly Accurate and Reproducible and More Sensitive for Variant Detection Than Exome Sequencing

A. Fulton, J. Wiggs, E. Pierce, 2014, Genetics in Medicine.

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

Olivier Poch, Xavier Zanlonghi, Odile Lecompte, 2013, American journal of human genetics.

Lrit3 Deficient Mouse (nob6): A Novel Model of Complete Congenital Stationary Night Blindness (cCSNB)

J. Sahel, O. Poch, I. Audo, 2014, PloS one.

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

Xavier Zanlonghi, Christian P. Hamel, Samuel G. Jacobson, 2013 .

Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy

E. Pierce, R. Huckfeldt, J. Comander, 2022, Ophthalmic genetics.

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

S. Mehrotra, E. Pierce, Revital Bronstein, 2020, Human molecular genetics.

Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular RPE Atrophy

Amna Z. Shah, C. Ponting, E. Zrenner, 2018 .

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

Scott H. Greenwald, E. Pierce, K. Bujakowska, 2017, bioRxiv.

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

Scott H. Greenwald, E. Pierce, K. Bujakowska, 2017, bioRxiv.

Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease

J. Sahel, S. Mohand-Said, I. Audo, 2022, International journal of molecular sciences.

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.

D. Koboldt, N. Katsanis, S. Daiger, 2020, American journal of human genetics.

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

J. Sahel, S. Bhattacharya, L. Prézeau, 2013, Investigative ophthalmology & visual science.

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

Amna Z. Shah, S. Bhattacharya, G. Alfano, 2013, Journal of Molecular and Genetic Medicine.

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

Joseph White, Mark B. Consugar, J. Comander, 2015, PloS one.

Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B.

J. Sahel, I. Audo, S. Mohand-Saïd, 2019, JAMA ophthalmology.

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

E. Pierce, J. Comander, Benyam Kinde, 2019, bioRxiv.

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

Olivier Poch, Sabine Defoort-Dhellemmes, Xavier Zanlonghi, 2012, American journal of human genetics.

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

T. Léveillard, J. Sahel, S. Jacobson, 2009, American journal of human genetics.

Detection of Large Structural Variants Causing Inherited Retinal Diseases.

D. Koboldt, S. Daiger, S. Bowne, 2019, Advances in experimental medicine and biology.

The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA

A. Fulton, E. Bedoukian, E. Pierce, 2017, Molecular vision.

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

F. Cremers, G. Holder, F. Raymond, 2016, Investigative ophthalmology & visual science.

Genetic testing of various eye disorders

E. Place, K. Bujakowska, R. Sangermano, 2020 .

CRB1 mutations in inherited retinal dystrophies

T. Léveillard, J. Sahel, S. Bhattacharya, 2012, Human mutation.

Copy Number Variation Is An Important Contributor to the Genetic Causality of Inherited Retinal Degenerations

H. Xie, E. Bedoukian, E. Pierce, 2016, Genetics in Medicine.

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

E. Pierce, Revital Bronstein, E. Capowski, 2019, bioRxiv.

Photoreceptor Cilia and Retinal Ciliopathies.

E. Pierce, K. Bujakowska, Qin Liu, 2017, Cold Spring Harbor perspectives in biology.

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

Marni J. Falk, J. Sahel, A. D. den Hollander, 2015, Human molecular genetics.

Targeted exon sequencing in Usher syndrome type I.

E. Berson, E. Pierce, M. Farkas, 2014, Investigative ophthalmology & visual science.

WDR34, a candidate gene for non‐syndromic rod‐cone dystrophy

T. Léveillard, J. Sahel, S. Bhattacharya, 2020, Clinical genetics.

A hidden structural variation in a known IRD gene: a cautionary tale of two new disease candidate genes

J. Wiggs, E. Pierce, E. Place, 2021, medRxiv.

Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod–cone degeneration

S. Daiger, L. Sullivan, E. Pierce, 2022, Cold Spring Harbor molecular case studies.

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

T. Léveillard, J. Sahel, S. Bhattacharya, 2012, Orphanet Journal of Rare Diseases.

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

J. Sahel, S. Bhattacharya, V. Moskova-Doumanova, 2010, BMC Medical Genetics.

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

T. Léveillard, N. Tanimoto, S. Beck, 2009, Investigative ophthalmology & visual science.

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.

T. Léveillard, J. Sahel, X. Guillonneau, 2014, Human molecular genetics.

Expanding the phenotypic spectrum in RDH12-associated retinal disease

S. Mukai, E. Pierce, R. Huckfeldt, 2020, Cold Spring Harbor molecular case studies.

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

F. Cremers, C. Boon, K. Bujakowska, 2018, Genes.

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

Amna Z. Shah, C. Ponting, A. Swaroop, 2007, American journal of human genetics.

Contribution of structural and intronic mutations to RPGRIP1-mediated inherited retinal dystrophies

D. MacArthur, M. Lek, E. Valkanas, 2017, bioRxiv.

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.

J. Sahel, S. Bhattacharya, I. Audo, 2011, Molecular vision.

De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment

W. Chung, I. Krantz, P. Hulick, 2019, European Journal of Human Genetics.

Early onset non-syndromic retinal degeneration due to variants in INPP5E: phenotypic expansion of the ciliary gene previously associated with Joubert syndrome

A. Fulton, D. Sharon, C. Rivolta, 2020, medRxiv.

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

A. Fulton, D. Sharon, C. Rivolta, 2021, npj Genomic Medicine.

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

D. Hunt, S. Bhattacharya, V. Vaclavik, 2008, Molecular vision.

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

S. Bhattacharya, E. Pierce, M. Farkas, 2014, The American journal of pathology.

Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker

E. Pierce, R. Huckfeldt, J. Comander, 2022, medRxiv.

The CXC-Chemokine CXCL4 Interacts with Integrins Implicated in Angiogenesis

N. Kieffer, A. Bikfalvi, K. Bujakowska, 2008, PloS one.

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

S. Bhattacharya, C. Inglehearn, E. Pierce, 2011, Investigative ophthalmology & visual science.

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

E. Pierce, K. Bujakowska, Rosario Fernandez‐Godino, 2017, bioRxiv.

The Importance of Automation in Genetic Diagnosis: Lessons from Analyzing an Inherited Retinal Degeneration Cohort with the Mendelian Analysis Toolkit (MATK)

E. Pierce, E. England, E. Place, 2021, medRxiv.

Contribution of non-coding mutations to RPGRIP1-mediated inherited retinal degeneration

D. MacArthur, M. Lek, E. Valkanas, 2018, Genetics in Medicine.

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

D. MacArthur, M. Lek, E. Valkanas, 2018, Genetics in Medicine.

The Effect Of Vitamin A On Progression Of Retinitis Pigmentosa Is Not Determined By The Underlying Genetic Cause Of Disease

E. Pierce, J. Comander, E. Place, 2017 .

Moving Towards PDE6A Gene Supplementation Therapy.

J. Comander, K. Bujakowska, 2020, JAMA ophthalmology.

Structure-based network analysis predicts mutations associated with inherited retinal disease

E. Rossin, E. Pierce, G. Gaiha, 2023, medRxiv.

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

F. Cremers, F. Raymond, K. Carss, 2016, Investigative ophthalmology & visual science.

Development and Application of a Next-generation- Sequencing (ngs) Approach to Detect Known and Novel Gene Defects Underlying Retinal Diseases

T. Léveillard, I. Audo, S. Mohand-Saïd, 2022 .

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

D. Hunt, S. Bhattacharya, V. Vaclavik, 2008, Molecular vision.

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

Jack M. Fu, K. Garimella, A. O’Donnell-Luria, 2023, medRxiv.

Contribution of non-coding mutations to RPGRIP1-mediated inherited retinal degeneration

D. MacArthur, M. Lek, E. Valkanas, 2018, Genetics in Medicine.

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

F. Cremers, C. Boon, K. Bujakowska, 2018, Genes.

Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene

Xinjing Wang, F. Raymond, G. Arno, 2018, Investigative ophthalmology & visual science.

Genome Sequencing for Diagnosing Rare Diseases.

A. O’Donnell-Luria, B. Weisburd, M. Singer-Berk, 2024, The New England journal of medicine.

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

Tiong, Kinga, A. O’Donnell-Luria, 2023, medRxiv.