Kinga M Bujakowska (Kinga Bujakowska)

ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 12

Top Venues

NPJ genomic medicine

Research square

Cold Spring Harbor molecular case studies

Genetics in medicine : official journal of the American College of Medical Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Kinga M Bujakowska, Riccardo Sangermano, Priya Gupta, Cherrell Price, Jinu Han, Julien Navarro, Christel Condroyer, Emily Place, Aline Antonio, Shizuo Mukai, Xavier Zanlonghi, José-Alain Sahel, Jacque Duncan, Eric Pierce, Christina Zeitz, Isabelle Audo, Rachel M Huckfeldt
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration. Research square (2024)
Blake M Hauser, Yuyang Luo, Anusha Nathan, Ahmad Al-Moujahed, Demetrios George Vavvas, Jason Comander, Eric A Pierce, Emily M Place, Kinga M Bujakowska, Gaurav D Gaiha, Elizabeth J Rossin
Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease. NPJ genomic medicine 9 (1) (2024)
Blake M Hauser, Yuyang Luo, Anusha Nathan, Ahmad Al-Moujahed, Demetrios George Vavvas, Jason Comander, Eric A Pierce, Emily M Place, Kinga M Bujakowska, Gaurav D Gaiha, Elizabeth J Rossin
Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease. NPJ genomic medicine 9 (1) (2024)
Blake M Hauser, Yuyang Luo, Anusha Nathan, Ahmad Al-Moujahed, Demetrios George Vavvas, Jason Comander, Eric A Pierce, Emily M Place, Kinga M Bujakowska, Gaurav D Gaiha, Elizabeth J Rossin
Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease. NPJ genomic medicine 9 (1) (2024)
Kinga M Bujakowska, Riccardo Sangermano, Priya Gupta, Cherrell Price, Jinu Han, Julien Navarro, Christel Condroyer, Emily Place, Aline Antonio, Shizuo Mukai, Xavier Zanlonghi, José-Alain Sahel, Jacque Duncan, Eric Pierce, Christina Zeitz, Isabelle Audo, Rachel M Huckfeldt
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration. Research square (2024)
Blake M Hauser, Yuyang Luo, Anusha Nathan, Ahmad Al-Moujahed, Demetrios George Vavvas, Jason Comander, Eric A Pierce, Emily M Place, Kinga M Bujakowska, Gaurav D Gaiha, Elizabeth J Rossin
Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease. NPJ genomic medicine 9 (1) (2024)
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, Eric A Pierce, Christina Zeitz, Isabelle Audo, Rachel M Huckfeldt, Kinga M Bujakowska
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration. Research square (2024)
Riccardo Sangermano, Iris Deitch, Virginie G Peter, Rola Ba-Abbad, Emily M Place, Erin Zampaglione, Naomi E Wagner, Anne B Fulton, Luisa Coutinho-Santos, Boris Rosin, Vincent Dunet, Ala'a AlTalbishi, Eyal Banin, Ana Berta Sousa, Mariana Neves, Anna Larson, Mathieu Quinodoz, Michel Michaelides, Tamar Ben-Yosef, Eric A Pierce, Carlo Rivolta, Andrew R Webster, Gavin Arno, Dror Sharon, Rachel M Huckfeldt, Kinga M Bujakowska
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD. NPJ genomic medicine 6 (1) (2021)
Hilary A Scott, Anna Larson, Shi Song Rong, Sudeep Mehrotra, Rossano Butcher, Katherine R Chao, Janey Wiggs, Emily M Place, Eric A Pierce, Kinga M Bujakowska
A Hidden Structural Variation in a Known IRD Gene: A Cautionary Tale of Two New Disease Candidate Genes. Cold Spring Harbor molecular case studies (2021)
Maria Solaguren-Beascoa, Kinga M Bujakowska, Cécile Méjécase, Lisa Emmenegger, Elise Orhan, Marion Neuillé, Saddek Mohand-Saïd, Christel Condroyer, Marie-Elise Lancelot, Christelle Michiels, Vanessa Demontant, Aline Antonio, Mélanie Letexier, Jean-Paul Saraiva, Christine Lonjou, Wassila Carpentier, Thierry Léveillard, Eric A Pierce, Hélène Dollfus, José Alain Sahel, Shomi S Bhattacharya, Isabelle Audo, Christina Zeitz
WDR34, a candidate gene for non-syndromic rod-cone dystrophy. Clinical genetics 99 (2) (2020)
Erin Zampaglione, Benyam Kinde, Emily M Place, Daniel Navarro-Gomez, Matthew Maher, Farzad Jamshidi, Sherwin Nassiri, J Alex Mazzone, Caitlin Finn, Dana Schlegel, Jason Comander, Eric A Pierce, Kinga M Bujakowska
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations. Genetics in medicine : official journal of the American College of Medical Genetics 22 (6) (2020)
Hilary A Scott, Emily M Place, Kevin Ferenchak, Erin Zampaglione, Naomi E Wagner, Katherine R Chao, Stephanie P DiTroia, Daniel Navarro-Gomez, Shizuo Mukai, Rachel M Huckfeldt, Eric A Pierce, Kinga M Bujakowska
Expanding the phenotypic spectrum in RDH12-associated retinal disease. Cold Spring Harbor molecular case studies 6 (1) (2020)

Kinga M Bujakowska.css-eqlu8i{font-size:small;padding-left:4px;} (Kinga Bujakowska)

Publication Activity (10 Years)

Top Topics

Top Venues

Kinga M Bujakowska (Kinga Bujakowska)