Carlo Rivolta
Carlo Rivolta
IOB and Dept. of Ophthalmology, University Hospital Basel, Basel, Switzerland
Verified email at - Homepage
TitleCited byYear
The complete genome sequence of the Gram-positive bacterium Bacillus subtilis
F Kunst, N Ogasawara, I Moszer, AM Albertini, GO Alloni, V Azevedo, ...
Nature 390 (6657), 249, 1997
Hundreds of variants clustered in genomic loci and biological pathways affect human height
HL Allen, K Estrada, G Lettre, SI Berndt, MN Weedon, F Rivadeneira, ...
Nature 467 (7317), 832, 2010
Essential Bacillus subtilis genes
K Kobayashi, SD Ehrlich, A Albertini, G Amati, KK Andersen, M Arnaud, ...
Proceedings of the National Academy of Sciences 100 (8), 4678-4683, 2003
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns
C Rivolta, D Sharon, MM DeAngelis, TP Dryja
Human molecular genetics 11 (10), 1219-1227, 2002
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits
JC Randall, TW Winkler, Z Kutalik, SI Berndt, AU Jackson, KL Monda, ...
PLoS genetics 9 (6), e1003500, 2013
A novel protein kinase that controls carbon catabolite repression in bacteria
J Reizer, C Hoischen, F Titgemeyer, C Rivolta, R Rabus, J Stülke, ...
Molecular microbiology 27 (6), 1157-1169, 1998
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-β signaling pathways
T Fukada, N Civic, T Furuichi, S Shimoda, K Mishima, H Higashiyama, ...
PloS one 3 (11), e3642, 2008
Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss
C Rivolta, EA Sweklo, EL Berson, TP Dryja
The American Journal of Human Genetics 66 (6), 1975-1978, 2000
The influence of age and sex on genetic associations with adult body size and shape: a large-scale genome-wide interaction study
TW Winkler, AE Justice, M Graff, L Barata, MF Feitosa, S Chu, ...
PLoS genetics 11 (10), e1005378, 2015
Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in …
E Salvi, Z Kutalik, N Glorioso, P Benaglio, F Frau, T Kuznetsova, H Arima, ...
Hypertension 59 (2), 248-255, 2012
Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function
X Wang, S Xu, C Rivolta, LY Li, GH Peng, PK Swain, CH Sung, ...
Journal of Biological Chemistry 277 (45), 43288-43300, 2002
Dominant Leber congenital amaurosis, cone‐rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX
C Rivolta, EL Berson, TP Dryja
Human mutation 18 (6), 488-498, 2001
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa
BJ Seyedahmadi, C Rivolta, JA Keene, EL Berson, TP Dryja
Experimental eye research 79 (2), 167-173, 2004
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene
KM Nishiguchi, RG Tearle, YP Liu, EC Oh, N Miyake, P Benaglio, ...
Proceedings of the National Academy of Sciences 110 (40), 16139-16144, 2013
PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa
G Tanackovic, A Ransijn, P Thibault, S Abou Elela, R Klinck, EL Berson, ...
Human molecular genetics 20 (11), 2116-2130, 2011
CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance
G Venturini, AM Rose, AZ Shah, SS Bhattacharya, C Rivolta
PLoS genetics 8 (11), e1003040, 2012
A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa
G Tanackovic, A Ransijn, C Ayuso, S Harper, EL Berson, C Rivolta
The American Journal of Human Genetics 88 (5), 643-649, 2011
Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay
TR Frio, NM Wade, A Ransijn, EL Berson, JS Beckmann, C Rivolta
The journal of clinical Investigation 118 (4), 1519-1531, 2008
Genetic evidence of assortative mating in humans
MR Robinson, A Kleinman, M Graff, AAE Vinkhuyzen, D Couper, ...
Nature Human Behaviour 1 (1), 0016, 2017
Variation in retinitis pigmentosa‐11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations
C Rivolta, TL McGee, TR Frio, RV Jensen, EL Berson, TP Dryja
Human mutation 27 (7), 644-653, 2006
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