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Inherited retinal degenerations (IRDs) are a group of heterogeneous diseases that lead to dysfunction and/or degeneration of rod and cone photoreceptors, resulting in blindness or severe impairment of vision. Despite substantial progress in sequencing technologies and over 260 IRD genes already discovered, only about 60% of IRD cases can be genetically diagnosed with the current strategies. The goal of Dr. Bujakowska's research is to discover new genetic causes of IRDs, which includes finding novel IRD genes and a systematic detection and validation of elusive mutations in already known disease genes. For example, her latest study of copy number variation indicates that 7% of IRD patients carry large deletions or duplications in the known IRD genes, thus increasing thediagnostic rate to 67%. Other classes of variants which I is interested in are the non-canonical splicing mutations and variants in the promoter, 5’ and 3’ untranslated regions, which may lead to changes in gene expression.
研究兴趣
论文共 114 篇作者统计合作学者相似作者
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Riccardo Sangermano, Priya Gupta, Cherrell Price, Jinu Han, Julien Navarro,Christel Condroyer,Emily M Place,Aline Antonio,Shizuo Mukai,Xavier Zanlonghi,José-Alain Sahel,Jacque L Duncan,
Research square (2024)
Daniel G Calame, Jovi Huixin Wong, Puravi Panda,Dat Tuan Nguyen, Nancy C P Leong,Riccardo Sangermano, Sohil G Patankar, Mohamed Abdel-Hamid, Lama AlAbdi, Sylvia Safwat, Kyle P Flannery,Zain Dardas,
medRxiv : the preprint server for health sciences (2024)
Marianna Weener,Hilary Scott,Emily Place, Kit Sanderson, Kevin Valestil,Juerg Straubhaar,Kinga Bujakowska,Eric Pierce
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEno. 8 (2023)
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medRxiv : the preprint server for health sciences (2023)
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEno. 8 (2023)
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Hilary A. Scott,Emily M. Place, Evelyn Harper,Sudeep Mehrotra, Broad CMG,Rachel Huckfeldt,Jason Comander,Eric A. Pierce,Kinga M. Bujakowska
medrxiv(2023)
Advances in experimental medicine and biology (2023): 173-182
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INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEno. 8 (2023)
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Carol DiFranco,Jason Comander, Kit Sanderson,Emily Place,Matthew Maher, Erin Zampaglione, Yan Zhao,Rachel Huckfeldt,Kinga Bujakowska,Eric Pierce
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEno. 8 (2023)
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medRxiv (Cold Spring Harbor Laboratory) (2023)
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