Kinga Bujakowska
Harvard University
H-index: 26
North America-United States
Top articles of Kinga Bujakowska
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders | medRxiv | Daniel G Calame Jovi Huixin Wong Puravi Panda Dat Tuan Nguyen Nancy CP Leong | 2024 |
Two novel non-coding single nucleotide variants in the DNase1 hypersensitivity site of PRDM13 causing North Carolina macular dystrophy in Korea | Molecular Vision | Yuri Seo Kwangsic Joo Junwon Lee Amber Diaz Sohyun Jang | 2024 |
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features | Human Genetics and Genomics Advances | Morad Ansari Kamli NW Faour Akiko Shimamura Graeme Grimes Emeline M Kao | 2024/4/11 |
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration. | Kinga Bujakowska Riccardo Sangermano Priya Gupta Cherrell Price Jinu Han | 2024/2/9 | |
Structure-based network analysis predicts mutations associated with inherited retinal disease | medRxiv | Blake M Hauser Yuyang Luo Anusha Nathan Gaurav D Gaiha Demetrios Vavvas | 2023/7/6 |
Characterization of EYS in human iPSC-derived Retinal Organoids | Investigative Ophthalmology & Visual Science | Egle Galdikaite-Braziene Julio Cesar Corral Serrano Marcela Garita-Hernandez Kinga Maria Bujakowska | 2023/6/1 |
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease | medRxiv | Gabrielle Lemire Alba Sanchis-Juan Kathryn Russell Samantha Baxter Katherine R Chao | 2023/10/5 |
Investigating genetic causality with a high throughput splicing assay | Investigative Ophthalmology & Visual Science | Kinga Maria Bujakowska Hilary Scott Emily Place Evelyn Harper Sudeep Mehrotra | 2023/6/1 |
Development of a High Throughput Assay | Investigative Ophthalmology & Visual Science | Hilary Scott Emily Place Evelyn Harper Kevin Valestil Sudeep Mehrotra | 2023/6/1 |
Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker | JCI insight | Jason Comander Carol Weigel DiFranco Kit Sanderson Emily Place Matthew Maher | 2023/8/8 |
Identification of novel genes and isoforms expressed in human retina and retinal pigment epithelium using the new T2T-CHM13 human genome assembly | Investigative Ophthalmology & Visual Science | Sudeep Mehrotra Ayellet V Segre Kinga Maria Bujakowska Eric A Pierce | 2023/6/1 |
Functional evaluation of rare deep intronic variants in patients with elusive genetic causality of inherited retinal degenerations | Investigative Ophthalmology & Visual Science | Marianna Weener Hilary Scott Emily Place Kit Sanderson Kevin Valestil | 2023/6/1 |
Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes | Riccardo Sangermano Egle Galdikaité-Braziené Kinga M Bujakowska | 2023/7/14 | |
Vitamin A for retinal degeneration revisited: the effects of genetic cause of disease, vitamin A/E supplementation and an electroretinogram biomarker on the rate of progression … | Investigative Ophthalmology & Visual Science | Carol Weigel DiFranco Jason Comander Kit Green Sanderson Emily Place Matthew Maher | 2023/6/1 |
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis | medRxiv | Monica H Wojcik Gabrielle Lemire Maha S Zaki Mariel Wissmann Wathone Win | 2023 |
In vivo CRISPR-KO screens for the study of photoreceptor essential genes and retinal disease modifiers | Investigative Ophthalmology & Visual Science | Riccardo Sangermano Egle Galdikaite-Braziene Sudeep Mehrotra Eric A Pierce Kinga Maria Bujakowska | 2023/6/1 |
Genotype-phenotype correlation and disease modeling in RPGR-related cone and cone-rod dystrophies. | Investigative Ophthalmology & Visual Science | Marco Nassisi Giuseppe De Bartolo Saddek Mohand-Said Christel Condroyer Aline Antonio | 2022/6/1 |
Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy | Ophthalmic genetics | Andrew J Catomeris Brian G Ballios Riccardo Sangermano Naomi E Wagner Jason I Comander | 2022/5/4 |
Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod–cone degeneration | Molecular Case Studies | Riccardo Sangermano Pooja Biswas Lori S Sullivan Emily M Place Shyamanga Borooah | 2022/12/1 |
A hidden structural variation in a known IRD gene: a cautionary tale of two new disease candidate genes | Molecular Case Studies | Hilary A Scott Anna Larson Shi Song Rong Sudeep Mehrotra Rossano Butcher | 2022/2/1 |
