Articles with public access mandates - Daniel SchorderetLearn more
OverallSNSFNIHDFGFWOMRCNIHRNSFUSEDVAHHMIAHAFWFNSFCTelethonVersus Arthritis, UKBBSRCBHFCancer Research UKNational Centre for the Replacement, Refinement and Reduction of Animals in Research, UKParkinson's UKWellcomeWorldwide Cancer Research, UKDoris Duke Charitable FoundationANRGovernment of SpainSCL
Not available anywhere: 4
A novel dominant mutation of the Nav1.4 α-subunit domain I leading to sodium channel myotonia
S Petitprez, L Tiab, L Chen, L Kappeler, KM Rosler, D Schorderet, ...
Neurology 71 (21), 1669-1675, 2008
Mandates: Swiss National Science Foundation
Zebrafish hmx1 promotes retinogenesis
G Boisset, DF Schorderet
Experimental eye research 105, 34-42, 2012
Mandates: Swiss National Science Foundation
Notch signaling in the pigmented epithelium of the anterior eye segment promotes ciliary body development at the expense of iris formation
B Sarode, CS Nowell, JE Ihm, C Kostic, Y Arsenijevic, AP Moulin, ...
Pigment cell & melanoma research 27 (4), 580-589, 2014
Mandates: Swiss National Science Foundation, Swiss Cancer League
Unilateral macular oedema in Zermatt and Stargardt macular dystrophies
H Abouzeid, TJ Wolfensberger, DF Schorderet, FL Munier
British journal of ophthalmology 93 (10), 1376-1377, 2009
Mandates: Swiss National Science Foundation
Available somewhere: 58
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ...
autophagy 17 (1), 1-382, 2021
Mandates: Swiss National Science Foundation, US National Institutes of Health, US …
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice
Z Yang, Y Chen, C Lillo, J Chien, Z Yu, M Michaelides, M Klein, ...
The Journal of clinical investigation 118 (8), 2908-2916, 2008
Mandates: US National Institutes of Health, German Research Foundation
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness
I Audo, S Kohl, BP Leroy, FL Munier, X Guillonneau, S Mohand-Saïd, ...
The American Journal of Human Genetics 85 (5), 720-729, 2009
Mandates: Swiss National Science Foundation, Research Foundation (Flanders), German …
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
Mandates: US National Institutes of Health
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta
B Polok, P Escher, A Ambresin, E Chouery, S Bolay, I Meunier, F Nan, ...
The American Journal of Human Genetics 84 (2), 259-265, 2009
Mandates: Swiss National Science Foundation
The PROM1 mutation p. R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod–cone, and macular dystrophy
M Michaelides, MC Gaillard, P Escher, L Tiab, M Bedell, FX Borruat, ...
Investigative ophthalmology & visual science 51 (9), 4771-4780, 2010
Mandates: Swiss National Science Foundation, US National Institutes of Health
Mechanisms of apoptosis in retinitis pigmentosa
S Cottet, DF Schorderet
Current molecular medicine 9 (3), 375-383, 2009
Mandates: Swiss National Science Foundation
NR2E3 mutations in enhanced S‐cone sensitivity syndrome (ESCS), Goldmann‐Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and …
DF Schorderet, P Escher
Human mutation 30 (11), 1475-1485, 2009
Mandates: Swiss National Science Foundation
Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease
A Gal, I Rau, L El Matri, HJ Kreienkamp, S Fehr, K Baklouti, I Chouchane, ...
The American Journal of Human Genetics 88 (3), 382-390, 2011
Mandates: Swiss National Science Foundation, US National Institutes of Health
Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome
DF Schorderet, O Nichini, G Boisset, B Polok, L Tiab, H Mayeur, B Raji, ...
The American Journal of Human Genetics 82 (5), 1178-1184, 2008
Mandates: Swiss National Science Foundation
Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1 Redefining DYT14 as DYT5
C Wider, S Melquist, M Hauf, A Solida, SA Cobb, JM Kachergus, J Gass, ...
Neurology 70 (16_part_2), 1377-1383, 2008
Mandates: Swiss National Science Foundation, US National Institutes of Health
Nuclear receptor Rev-erb alpha (Nr1d1) functions in concert with Nr2e3 to regulate transcriptional networks in the retina
NJ Mollema, Y Yuan, AS Jelcick, AJ Sachs, D von Alpen, D Schorderet, ...
PloS one 6 (3), e17494, 2011
Mandates: Swiss National Science Foundation, US National Institutes of Health
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm
M Yahyavi, H Abouzeid, G Gawdat, AS De Preux, T Xiao, T Bardakjian, ...
Human molecular genetics 22 (16), 3250-3258, 2013
Mandates: US National Institutes of Health
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family
P Escher, P Gouras, R Roduit, L Tiab, S Bolay, T Delarive, S Chen, ...
Human mutation 30 (3), 342-351, 2009
Mandates: Swiss National Science Foundation, US National Institutes of Health
Mutations in the spliceosome component CWC27 cause retinal degeneration with or without additional developmental anomalies
M Xu, YA Xie, H Abouzeid, CT Gordon, A Fiorentino, Z Sun, A Lehman, ...
The American Journal of Human Genetics 100 (4), 592-604, 2017
Mandates: US National Institutes of Health, National Natural Science Foundation of …
PAX6 aniridia and interhemispheric brain anomalies
H Abouzeid, MA Youssef, N ElShakankiri, P Hauser, FL Munier, ...
Molecular vision 15, 2074, 2009
Mandates: Swiss National Science Foundation
Publication and funding information is determined automatically by a computer program