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Place, Emily M
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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/..
 
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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/..
 
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3

Retinal Manifestations in Spinocerebellar Ataxia Type 3:

Chorfi, Sarah ; Place, Emily M. ; Mallery, Robert M..
Journal of Neuro-Ophthalmology.  , 2022
Link: https://doi.org/10.1097/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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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/..
 
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8

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/..
 
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9

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/..
 
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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/..
 
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11

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/..
 
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12

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/..
 
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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/..
 
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14

Heterozygous loss-of-function SMC3 variants are associated ..:

Ansari, Morad ; Faour, Kamli N.W. ; Shimamura, Akiko...
Human Genetics and Genomics Advances.  5 (2024)  2 - p. 100273 , 2024
Link: https://doi.org/10.1016/..
 
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15

Natural history of retinitis pigmentosa based on genotype, ..:

Comander, Jason ; Weigel DiFranco, Carol ; Sanderson, Kit...
JCI Insight.  8 (2023)  15 - p. , 2023
Link: https://doi.org/10.1172/..
 
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