E-LIB Suche - Ergebnisse für: Place, Emily M

1

Generation of a human induced pluripotent stem cell line (O..:

Zhang, Hanmeng ; Daheron, Laurence ; Cerna-Chavez, Rodrigo...
Stem Cell Research. 74 (2024) - p. 103280 , 2024

Link: https://doi.org/10.1016/..

2

Structure-based network analysis predicts pathogenic varian..:

Hauser, Blake M. ; Luo, Yuyang ; Nathan, Anusha...
npj Genomic Medicine. 9 (2024) 1 - p. , 2024

Link: https://doi.org/10.1038/..

3

Novel RCBTB1 variants causing later-onset non-syndromic ret..:

Catomeris, Andrew J. ; Ballios, Brian G. ; Sangermano, Riccardo...
Ophthalmic Genetics. 43 (2022) 3 - p. 332-339 , 2022

Link: https://doi.org/10.1080/..

4

The importance of automation in genetic diagnosis: Lessons ..:

Zampaglione, Erin ; Maher, Matthew ; Place, Emily M....
Genetics in Medicine. 24 (2022) 2 - p. 332-343 , 2022

Link: https://doi.org/10.1016/..

5

RP2 X-LINKED RETINITIS PIGMENTOSA CARRIER STATE PRESENTING ..:

Raparia, Eva ; Ballios, Brian G. ; Place, Emily M...
RETINAL Cases & Brief Reports. 17 (2022) 5 - p. 533-537 , 2022

Link: https://doi.org/10.1097/..

6

Retinal Manifestations in Spinocerebellar Ataxia Type 3:

Chorfi, Sarah ; Place, Emily M. ; Mallery, Robert M..
Journal of Neuro-Ophthalmology. 44 (2022) 1 - p. e3-e5 , 2022

Link: https://doi.org/10.1097/..

7

Characterization of the Spectrum of Ophthalmic Changes in P..:

da Palma, Mariana Matioli ; Igelman, Austin D. ; Ku, Cristy...
Investigative Opthalmology & Visual Science. 62 (2021) 7 - p. 27 , 2021

Link: https://doi.org/10.1167/..

8

Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype..:

Ballios, Brian G. ; Place, Emily M. ; Martinez-Velazquez, Luis...
Genes. 12 (2021) 12 - p. 1853 , 2021

Link: https://doi.org/10.3390/..

9

Broadening INPP5E phenotypic spectrum: detection of rare va..:

Sangermano, Riccardo ; Deitch, Iris ; Peter, Virginie G....
npj Genomic Medicine. 6 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

10

Copy-number variation contributes 9% of pathogenicity in th..:

Zampaglione, Erin ; Kinde, Benyam ; Place, Emily M....
Genetics in Medicine. 22 (2020) 6 - p. 1079-1087 , 2020

Link: https://doi.org/10.1038/..

11

Contribution of noncoding pathogenic variants to RPGRIP1-me..:

Jamshidi, Farzad ; Place, Emily M. ; Mehrotra, Sudeep...
Genetics in Medicine. 21 (2019) 3 - p. 694-704 , 2019

Link: https://doi.org/10.1038/..

12

Predictive value of genetic testing for inherited retinal d..:

Stanwyck, Lynn K. ; Place, Emily M. ; Comander, Jason..
American Journal of Ophthalmology Case Reports. 15 (2019) - p. 100461 , 2019

Link: https://doi.org/10.1016/..

13

Panel-based genetic diagnostic testing for inherited eye di..:

Consugar, Mark B. ; Navarro-Gomez, Daniel ; Place, Emily M....
Genetics in Medicine. 17 (2015) 4 - p. 253-261 , 2015

Link: https://doi.org/10.1038/..

14

Structure-based network analysis predicts mutations associa..:

Hauser, Blake M ; Luo, Yuyang ; Nathan, Anusha...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10350150/. , 2023

Link: http://www.ncbi.nlm.nih...

15

Novel RCBTB1 variants causing later-onset non-syndromic ret..:

Catomeris, Andrew J ; Ballios, Brian G ; Sangermano, Riccardo...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9177531/. , 2022

Link: http://www.ncbi.nlm.nih...