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Blain, Delphine
83  results:
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1

P657: Structural variants identified by short-read genome s..:

Ullah, Ehsan ; Naik, Amelia ; Bender, Chelsea...
Genetics in Medicine Open.  2 (2024)  - p. 101562 , 2024
Link: https://doi.org/10.1016/..
 
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2

RPGR: Deep Phenotyping and Genetic Characterization With Fi..:

Benson, Matthew D. ; Mukherjee, Souvick ; Agather, Aime R....
Investigative Opthalmology & Visual Science.  64 (2023)  12 - p. 19 , 2023
Link: https://doi.org/10.1167/..
 
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3

A novel variant affecting the cytoplasmic tail of the FAT1 ..:

Vieta-Ferrer, Emile R. ; Ullah, Ehsan ; Blain, Delphine...
Ophthalmic Genetics.  44 (2023)  2 - p. 182-185 , 2023
Link: https://doi.org/10.1080/..
 
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4

Investigating Determinants and Evaluating Deep Learning Tra..:

Malechka, Volha V. ; Duong, Dat ; Bordonada, Keyla D....
Ophthalmology Science.  3 (2023)  1 - p. 100225 , 2023
Link: https://doi.org/10.1016/..
 
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5

P336: Resolving missing heritability by iterative multidisc..:

Ullah, Ehsan ; Guan, Bin ; Naik, Amelia...
Genetics in Medicine Open.  1 (2023)  1 - p. 100364 , 2023
Link: https://doi.org/10.1016/..
 
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Comprehensive variant spectrum of theCNGA3gene in patients ..:

Solaki, Maria ; Baumann, Britta ; Reuter, Peggy...
Human Mutation.  43 (2022)  7 - p. 832-858 , 2022
Link: https://doi.org/10.1002/..
 
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7

Review of evidence for environmental causes of uveal colobo..:

Selzer, Evan B. ; Blain, Delphine ; Hufnagel, Robert B....
Survey of Ophthalmology.  67 (2022)  4 - p. 1031-1047 , 2022
Link: https://doi.org/10.1016/..
 
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8

Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies:

Malechka, Volha V. ; Cukras, Catherine A. ; Chew, Emily Y....
Genes.  13 (2022)  5 - p. 925 , 2022
Link: https://doi.org/10.3390/..
 
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9

De novo frameshift mutation in YAP1 associated with bilater..:

DeYoung, Charles ; Guan, Bin ; Ullah, Ehsan...
Ophthalmic Genetics.  43 (2022)  4 - p. 513-517 , 2022
Link: https://doi.org/10.1080/..
 
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10

Zfp503/Nlz2 Is Required for RPE Differentiation and Optic F..:

Boobalan, Elangovan ; Thompson, Amy H. ; Alur, Ramakrishna P....
Investigative Opthalmology & Visual Science.  63 (2022)  12 - p. 5 , 2022
Link: https://doi.org/10.1167/..
 
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11

Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism:

Daich Varela, Malena ; Hufnagel, Robert B. ; Guan, Bin...
Ophthalmic Genetics.  42 (2021)  3 - p. 320-325 , 2021
Link: https://doi.org/10.1080/..
 
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12

Genetic testing for inherited eye conditions in over 6,000 ..:

Goetz, Kerry E. ; Reeves, Melissa J. ; Gagadam, Shaina...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  184 (2020)  3 - p. 828-837 , 2020
Link: https://doi.org/10.1002/..
 
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13

Retinoschisis associated with Kearns-Sayre syndrome:

Chertkof, Julia ; Hufnagel, Robert B. ; Blain, Delphine..
Ophthalmic Genetics.  41 (2020)  5 - p. 497-500 , 2020
Link: https://doi.org/10.1080/..
 
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14

High‐throughput custom capture sequencing identifies novel ..:

Kalaskar, Vijay K. ; Alur, Ramakrishna P. ; Li, LeeAnn K....
Human Mutation.  41 (2019)  3 - p. 678-695 , 2019
Link: https://doi.org/10.1002/..
 
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15

Motivations and Decision Making Processes of Men With X-lin..:

Turriff, Amy ; Blain, Delphine ; Similuk, Morgan...
American Journal of Ophthalmology.  204 (2019)  - p. 90-96 , 2019
Link: https://doi.org/10.1016/..
 
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