Kinga Bujakowska

Assistant Professor

Harvard University

United States

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Kinga Bujakowska is an Assistant Professor at Harvard University, USA. Her research focuses on the optimization of gene editing technologies, genetic variants associated with retinal degeneration, and the diagnosis of rare genetic diseases. Recent publications include studies on isogenic models of Mendelian diseases and the pathogenic variants in human proteins related to inherited retinal conditions.

Articles (10)

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2024

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2024

Collaborators (4)

Demetrios Vavvas

Professor

Harvard Medical School

UNITED STATES

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Russell Van Gelder

University of Washington

UNITED STATES

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Siddharth Banka

The University of Manchester

UNITED KINGDOM

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S. Amer Riazuddin

Johns Hopkins University

UNITED STATES

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Kinga Bujakowska

Research Interests

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Articles (10)

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease

Targeted long-read sequencing enriches disease-relevant genomic regions of interest to provide complete Mendelian disease diagnostics

Optimized Prime Editing of Human Induced Pluripotent Stem Cells to Efficiently Generate Isogenic Models of Mendelian Diseases

Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.

Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.

Genome Sequencing for Diagnosing Rare Diseases.

Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.

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

Collaborators (4)

Demetrios Vavvas

Russell Van Gelder

Siddharth Banka

S. Amer Riazuddin

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