Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Emily M, Place"'
Autor:
Blake M. Hauser, Yuyang Luo, Anusha Nathan, Ahmad Al-Moujahed, Demetrios G. Vavvas, Jason Comander, Eric A. Pierce, Emily M. Place, Kinga M. Bujakowska, Gaurav D. Gaiha, Elizabeth J. Rossin
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-11 (2024)
Abstract Advances in gene sequencing technologies have accelerated the identification of genetic variants, but better tools are needed to understand which are causal of disease. This would be particularly useful in fields where gene therapy is a pote
Externí odkaz:
https://doaj.org/article/687636a497b74f41b978034f522f3392
Autor:
Hanmeng Zhang, Laurence Daheron, Rodrigo Cerna-Chavez, Emily M. Place, Rachel M. Huckfeldt, Eric A. Pierce, Marcela Garita-Hernandez
Publikováno v:
Stem Cell Research, Vol 74, Iss , Pp 103280- (2024)
We have successfully derived a novel human induced pluripotent stem cell (hiPSC) line using non-integrative Sendai virus. This hiPSC line was generated from a healthy male adult donor, aged 55, and subjected to thorough characterization and extensive
Externí odkaz:
https://doaj.org/article/4d1f7e50dde5403480fb983c50e4f6b3
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
Publikováno v:
Seminars in Ophthalmology. 38:201-206
To review disparities in the field of inherited retinal degenerations to establish foundations for future discussions oriented toward finding possible solutions. A narrative overview of the literature. Despite collective efforts towards democratizati
Autor:
Brian G. Ballios, Emily M. Place, Luis Martinez-Velazquez, Eric A. Pierce, Jason I. Comander, Rachel M. Huckfeldt
Publikováno v:
Genes, Vol 12, Iss 12, p 1853 (2021)
Sector and pericentral are two rare, regional forms of retinitis pigmentosa (RP). While usually defined as stable or only very slowly progressing, the available literature to support this claim is limited. Additionally, few studies have analyzed the
Externí odkaz:
https://doaj.org/article/465273ad4ede469c93551b33a0864f67
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
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 15, Iss , Pp - (2019)
Purpose: The clinical features of autoimmune retinopathy (AIR) can resemble and be difficult to differentiate from inherited retinal degenerations (IRDs). Misdiagnosis of an IRD as AIR causes unnecessary treatment with immunosuppressive agents. The p
Externí odkaz:
https://doaj.org/article/4c4375c6068b44c9afeb040e62e977b6
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
Publikováno v:
Journal of Neuro-Ophthalmology.
Autor:
Riccardo, Sangermano, Pooja, Biswas, Lori S, Sullivan, Emily M, Place, Shyamanga, Borooah, Juerg, Straubhaar, Eric A, Pierce, Stephen P, Daiger, Kinga M, Bujakowska, Radha, Ayaggari
Publikováno v:
Cold Spring Harbor molecular case studies. 8(7)
A family, with two affected identical twins with early-onset recessive inherited retinal degeneration, was analyzed to determine the underlying genetic cause of pathology. Exome sequencing revealed a rare and previously reported causative variant (c.