Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Naomi E Wagner"'
Autor:
Juan D. Arias, Fritz Gerald P. Kalaw, Varsha Alex, Shaden H. Yassin, Henry Ferreyra, Evan Walker, Naomi E. Wagner, Shyamanga Borooah
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-8 (2023)
Abstract Macular edema (ME), the accumulation of intraretinal fluid in the macula, is a common sight affecting sequelae of retinitis pigmentosa (RP). However, it is unclear why some patients develop ME, and others do not. This study aims to identify
Externí odkaz:
https://doaj.org/article/c4d80e21ac094334adff63f3c8a7ad6c
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
Autor:
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
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Abstract Pathogenic variants in INPP5E cause Joubert syndrome (JBTS), a ciliopathy with retinal involvement. However, despite sporadic cases in large cohort sequencing studies, a clear association with non-syndromic inherited retinal degenerations (I
Externí odkaz:
https://doaj.org/article/e208f44c488745faa67e41d6e10b7aa1
Autor:
Andrew J, Catomeris, Brian G, Ballios, Riccardo, Sangermano, Naomi E, Wagner, Jason I, Comander, Eric A, Pierce, Emily M, Place, Kinga M, Bujakowska, Rachel M, Huckfeldt
Publikováno v:
Ophthalmic Genet
BACKGROUND: Variants in RCBTB1 were recently described to cause a retinal dystrophy with only eight families described to date and a predominant phenotype of macular atrophy and peripheral reticular degeneration. Here, we further evaluate the genotyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::274cff1e90cc2e77199260499acd922f
https://pubmed.ncbi.nlm.nih.gov/35057699
https://pubmed.ncbi.nlm.nih.gov/35057699
Autor:
Andrew J. Catomeris, Brian G. Ballios, Riccardo Sangermano, Naomi E. Wagner, Jason I. Comander, Eric A. Pierce, Emily M. Place, Kinga M. Bujakowska, Rachel M. Huckfeldt
Publikováno v:
Ophthalmic Genetics. 43:332-339
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0af96192a875cf213685863fd2b24e93
https://doi.org/10.1080/13816810.2021.2023196
https://doi.org/10.1080/13816810.2021.2023196
Publikováno v:
Journal of Genetic Counseling
Genetic counseling services changed due to the COVID‐19 pandemic. Many genetic counselors (GCs) moved from in‐person to telehealth services. Others were redeployed by choice or necessity, using their expertise to provide COVID‐19 care and educa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::978aae7f66e5742e954b6b625c78f243
http://europepmc.org/articles/PMC8657356
http://europepmc.org/articles/PMC8657356
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
Autor:
Rachel M. Huckfeldt, Kinga M. Bujakowska, Mariana Neves, Erin Zampaglione, Andrew R. Webster, Anne B. Fulton, Iris Deitch, Vincent Dunet, Rola Ba-Abbad, Michel Michaelides, Gavin Arno, Virginie G. Peter, Eric A. Pierce, Emily Place, Eyal Banin, Boris Rosin, Mathieu Quinodoz, Carlo Rivolta, Tamar Ben-Yosef, Dror Sharon, Riccardo Sangermano, Naomi E Wagner, Ana Berta Sousa, Alaa AlTalbishi, Luisa Coutinho-Santos, Anna Larson
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
NPJ Genomic Medicine
NPJ Genomic Medicine
Pathogenic variants in INPP5E cause Joubert syndrome (JBTS), a ciliopathy with retinal involvement. However, despite sporadic cases in large cohort sequencing studies, a clear association with non-syndromic inherited retinal degenerations (IRDs) has
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a91751e9631c3764b5f987a508bf6d7
https://doi.org/10.1038/s41525-021-00214-8
https://doi.org/10.1038/s41525-021-00214-8
Autor:
Brian S. Cole, Eglé Galdikaité-Braziené, Katherine R. Chao, Sherwin Nassiri, Broad Cmg, Kinga M. Bujakowska, Joey Pagliarulo, Matthew Maher, Stephanie DiTroia, Seraphim Himes, Naomi E Wagner, Andrew J. Catomeris, Eric A. Pierce, Charles Ferguson, Erin Zampaglione, Eleina M. England, Emily Place
Publikováno v:
Genet Med
PurposeIn Mendelian disease diagnosis, variant analysis is a repetitive, error-prone, and time-consuming process. To address this, we have developed the Mendelian Analysis Toolkit (MATK), a configurable automated variant ranking program.MethodsMATK a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8ee69f52576d89554bcab5aaf189345
https://doi.org/10.1101/2021.04.09.21255188
https://doi.org/10.1101/2021.04.09.21255188
Autor:
Kinga M. Bujakowska, Rola Ba-Abbad, Mariana Neves, Tamar Ben-Yosef, Ana Berta Sousa, Alaa AlTalbishi, Iris Deitch, Mathieu Quinodoz, Riccardo Sangermano, Boris Rosin, Eyal Banin, Luisa Coutinho-Santos, Michel Michaelides, Virginie G. Peter, Anna Larson, Anne B. Fulton, Vincent Dunet, Rachel M. Huckfeldt, Eric A. Pierce, Andrew R. Webster, Gavin Arno, Carlo Rivolta, Dror Sharon, Emily Place, Naomi E Wagner
PurposePathogenic variants in INPP5E cause Joubert syndrome, a systemic disorder that can manifest with retinal degeneration among other clinical features. We aimed to evaluate the role of INPP5E variants in non-syndromic inherited retinal degenerati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e487d3564d3471e3b98c6d17e19b33f
https://doi.org/10.1101/2020.08.24.20179085
https://doi.org/10.1101/2020.08.24.20179085
A significant number of individuals suffer from hereditary ocular disorders and age-related vision impairments and that number is expected to double as the population ages. With the recent advancements in gene therapy shown to be effective in treatin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::21beb5ab9ff1561fa09614a1d76ab61b
https://doi.org/10.1016/b978-0-12-816222-4.00014-9
https://doi.org/10.1016/b978-0-12-816222-4.00014-9
Autor:
Shizuo Mukai, Kevin Ferenchak, Rachel M. Huckfeldt, Erin Zampaglione, Naomi E Wagner, Hilary A Scott, Emily Place, Kinga M. Bujakowska, Katherine R. Chao, Stephanie DiTroia, Eric A. Pierce, Daniel Navarro-Gomez
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Retinol dehydrogenase 12, RDH12, plays a pivotal role in the visual cycle to ensure the maintenance of normal vision. Alterations in activity of this protein result in photoreceptor death and decreased vision beginning at an early age and progressing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1062b55c4499fa1fb9dd5559e04bbb0
http://europepmc.org/articles/PMC6996522
http://europepmc.org/articles/PMC6996522