Elise Orhan
Elise Orhan
PhD, Institut de la Vision
Verified email at inserm.fr
Title
Cited by
Cited by
Year
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness
C Zeitz, SG Jacobson, CP Hamel, K Bujakowska, M Neuillé, E Orhan, ...
The American Journal of Human Genetics 92 (1), 67-75, 2013
1152013
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness
I Audo, K Bujakowska, E Orhan, CM Poloschek, S Defoort-Dhellemmes, ...
The American Journal of Human Genetics 90 (2), 321-330, 2012
1082012
Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB)
M Neuillé, S El Shamieh, E Orhan, C Michiels, A Antonio, ME Lancelot, ...
PloS one 9 (3), e90342, 2014
442014
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy
S El Shamieh, M Neuillé, A Terray, E Orhan, C Condroyer, V Démontant, ...
The American Journal of Human Genetics 94 (4), 625-633, 2014
412014
LRIT 3 is essential to localize TRPM 1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation
M Neuillé, CW Morgans, Y Cao, E Orhan, C Michiels, JA Sahel, I Audo, ...
European Journal of Neuroscience 42 (3), 1966-1975, 2015
362015
Genotypic and phenotypic characterization of P23H line 1 rat model
E Orhan, D Dalkara, M Neuillé, C Lechauve, C Michiels, S Picaud, ...
PLoS One 10 (5), e0127319, 2015
362015
RP1 and autosomal dominant rod–cone dystrophy: Novel mutations, a review of published variants, and genotype–phenotype correlation
I Audo, S Mohand‐Saïd, CM Dhaenens, A Germain, E Orhan, A Antonio, ...
Human mutation 33 (1), 73-80, 2012
312012
The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel …
I Audo, K Bujakowska, E Orhan, S El Shamieh, F Sennlaub, ...
Human molecular genetics 23 (2), 491-501, 2014
202014
Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness
E Orhan, L Prézeau, S El Shamieh, KM Bujakowska, C Michiels, Y Zagar, ...
Investigative ophthalmology & visual science 54 (13), 8041-8050, 2013
162013
Congenital Stationary Night Blindness Consortium Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness
C Zeitz, SG Jacobson, CP Hamel, K Bujakowska, M Neuillé, E Orhan, ...
Am. J. Hum. Genet 92, 67-75, 2013
52013
Whole exome sequencing identifies mutations in LRIT3 as a cause for autosomal recessive complete congenital stationary night blindness
C Zeitz, S Jacobson, C Hamel, K Bujakowska, M Neuillé, E Orhan, ...
Investigative Ophthalmology & Visual Science 54 (15), 3350-3350, 2013
12013
WDR34, a candidate gene for non‐syndromic rod‐cone dystrophy
M Solaguren‐Beascoa, KM Bujakowska, C Méjécase, L Emmenegger, ...
Clinical Genetics, 2020
2020
A CCDC51 frameshift variant as a candidate gene defect for autosomal recessive rod-cone dystrophy
C Zeitz, C Méjécase, S Mohand-Saïd, L Emmengger, A Schalk, M Neuillé, ...
Investigative Ophthalmology & Visual Science 60 (9), 415-415, 2019
2019
Gene Therapy for CSNB associated with GRM6 gene defects
MM de Sousa Dias, T Pugliese, M Neuille, E Orhan, C Michiels, ...
Investigative Ophthalmology & Visual Science 57 (12), 1182-1182, 2016
2016
LRIT3 is essential to localize TRPM1 to the dendritic tips of ON-bipolar cells and may play a role in cone synapse formation
M Neuille, CW Morgans, E Orhan, C Michiels, JA Sahel, IS Audo, ...
Investigative Ophthalmology & Visual Science 56 (7), 2612-2612, 2015
2015
Genotypic and Phenotypic Characterization of P23H Line 1 Rat Model
M Lavail, E Orhan, D Dalkara, M Neuille, C Lechauve, C Michiels, ...
2015
Whole exome sequencing identifies a new ciliary gene in autosomal recessive rod-cone dystrophy
I Audo, S El Shamieh, M Neuillé, A Terray, E Orhan, S Mohand-Saïd, ...
Investigative Ophthalmology & Visual Science 55 (13), 405-405, 2014
2014
A novel mouse model for complete Congenital Stationary Night Blindness (cCSNB)
M Neuillé, S El Shamieh, E Orhan, C Michiels, KM Bujakowska, O Poch, ...
Investigative Ophthalmology & Visual Science 55 (13), 1642-1642, 2014
2014
Marie-Elise Lancelot, Mélanie Letexier, 4 Jean-Paul Saraiva, 4 Thierry Léveillard
S El Shamieh, M Neuillé, A Terray, E Orhan, C Condroyer, V Démontant, ...
The American Journal of Human Genetics 94, 1-9, 2014
2014
Mutations of the gpr179 gene in congenital stationary night blindness
C Zeitz, I Audo, E Orhan, K BUJAKOWSKA, JA Sahel
2013
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