Carlo Rivolta

Publications | Mémoires et thèses

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89 publications

Sous presse | 2019 | 2018 | 2017 | 2016 | 2015 | 2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2006 | 2004 | 2003 | 2002 | 2001 | 2000 | 1999 | 1998 | 1997 |
 
Expanded phenotypic spectrum of retinopathies associated with autosomal recessive and dominant mutations in PROM1.
Del Pozo-Valero M., Martin-Merida I., Jimenez-Rolando B., Arteche A., Avila-Fernandez A., Blanco-Kelly F., Riveiro-Alvarez R., Van Cauwenbergh C., De Baere E., Rivolta C. et al. American journal of ophthalmology. Peer-reviewed.
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.
Nikopoulos K., Cisarova K., Quinodoz M., Koskiniemi-Kuendig H., Miyake N., Farinelli P., Rehman A.U., Khan M.I., Prunotto A., Akiyama M. et al., 2019/06/28. Nature communications, 10 (1) p. 2884. Peer-reviewed.
Conjunctival Melanoma Targeted Therapy: MAPK and PI3K/mTOR Pathways Inhibition.
El Zaoui I., Bucher M., Rimoldi D., Nicolas M., Kaya G., Pescini Gobert R., Bedoni N., Schalenbourg A., Sakina E., Zografos L. et al., 2019/06/03. Investigative ophthalmology & visual science, 60 (7) pp. 2764-2772. Peer-reviewed.
Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant.
Royer-Bertrand B., Tsouni P., Mullen P., Campos Xavier B., Mittaz Crettol L., Lobrinus A.J., Ghika J., Baumgartner M.R., Rivolta C., Superti-Furga A. et al., 2019/06. Annals of clinical and translational neurology, 6 (6) pp. 1072-1080. Peer-reviewed.
 
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa.
Peter V.G., Nikopoulos K., Quinodoz M., Granse L., Farinelli P., Superti-Furga A., Andréasson S., Rivolta C., 2019/04. Ophthalmic Genetics, 40 (2) pp. 177-181. Peer-reviewed.
Mineralocorticoid receptor antagonism limits experimental choroidal neovascularization and structural changes associated with neovascular age-related macular degeneration.
Zhao M., Mantel I., Gelize E., Li X., Xie X., Arboleda A., Seminel M., Levy-Boukris R., Dernigoghossian M., Prunotto A. et al., 2019/01/21. Nature communications, 10 (1) p. 369. Peer-reviewed.
Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.
Verbakel S.K., van Huet RAC, den Hollander A.I., Geerlings M.J., Kersten E., Klevering B.J., Klaver CCW, Plomp A.S., Wesseling N.L., Bergen AAB et al., 2019. Investigative Ophthalmology & Visual Science, 60 (4) pp. 1192-1203. Peer-reviewed.
 
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.
Khateb S., Kowalewski B., Bedoni N., Damme M., Pollack N., Saada A., Obolensky A., Ben-Yosef T., Gross M., Dierks T. et al., 2018/09. Genetics in medicine, 20 (9) pp. 1004-1012. Peer-reviewed.
Reciprocal modulation of mesenchymal stem cells and tumor cells promotes lung cancer metastasis.
Fregni G., Quinodoz M., Möller E., Vuille J., Galland S., Fusco C., Martin P., Letovanec I., Provero P., Rivolta C. et al., 2018/03. EBioMedicine, 29 pp. 128-145. Peer-reviewed.
DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders.
Quinodoz M., Royer-Bertrand B., Cisarova K., Di Gioia S.A., Superti-Furga A., Rivolta C., 2017/10/05. American journal of human genetics, 101 (4) pp. 623-629. Peer-reviewed.
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.
Volpi S., Yamazaki Y., Brauer P.M., van Rooijen E., Hayashida A., Slavotinek A., Sun Kuehn H., Di Rocco M., Rivolta C., Bortolomai I. et al., 2017/03/06. The Journal of experimental medicine, 214 (3) pp. 623-637. Peer-reviewed.
 
OR2W3 sequence variants are unlikely to cause inherited retinal diseases.
Sharon D., Kimchi A., Rivolta C., 2016/12. Ophthalmic genetics, 37 (4) pp. 366-368. Peer-reviewed.
Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing.
Royer-Bertrand B., Torsello M., Rimoldi D., El Zaoui I., Cisarova K., Pescini-Gobert R., Raynaud F., Zografos L., Schalenbourg A., Speiser D. et al., 2016/11/03. American journal of human genetics, 99 (5) pp. 1190-1198. Peer-reviewed.
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Bedoni N., Haer-Wigman L., Vaclavik V., Tran V.H., Farinelli P., Balzano S., Royer-Bertrand B., El-Asrag M.E., Bonny O., Ikonomidis C. et al., 2016/10/15. Human molecular genetics, 25 (20) pp. 4546-4555. Peer-reviewed.
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.
Coppieters F., Ascari G., Dannhausen K., Nikopoulos K., Peelman F., Karlstetter M., Xu M., Brachet C., Meunier I., Tsilimbaris M.K. et al., 2016/08/04. American journal of human genetics, 99 (2) pp. 470-480. Peer-reviewed.
UV light signature in conjunctival melanoma; not only skin should be protected from solar radiation.
Rivolta C., Royer-Bertrand B., Rimoldi D., Schalenbourg A., Zografos L., Leyvraz S., Moulin A., 2016/04. Journal of human genetics, 61 (4) pp. 361-362. Peer-reviewed.
Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.
Rose A.M., Shah A.Z., Venturini G., Krishna A., Chakravarti A., Rivolta C., Bhattacharya S.S., 2016/01/19. Scientific reports, 6 p. 19450. Peer-reviewed.
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.
Sanchez-Alcudia R., Garcia-Hoyos M., Lopez-Martinez M.A., Sanchez-Bolivar N., Zurita O., Gimenez A., Villaverde C., Rodrigues-Jacy da Silva L., Corton M., Perez-Carro R. et al., 2016. Plos One, 11 (4) pp. e0151943. Peer-reviewed.
 
Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease.
Bonafé L., Kariminejad A., Li J., Royer-Bertrand B., Garcia V., Mahdavi S., Bozorgmehr B., Lachman R.L., Mittaz-Crettol L., Campos-Xavier B. et al., 2016. Arthritis and Rheumatology (hoboken, N.j.), 68 (9) pp. 2323-2327. Peer-reviewed.
 
Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease.
Simsek Kiper P.O., Saito H., Gori F., Unger S., Hesse E., Yamana K., Kiviranta R., Solban N., Liu J., Brommage R. et al., 2016. New England Journal of Medicine, 374 (26) pp. 2553-2562. Peer-reviewed.
 
NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
van Karnebeek C.D., Bonafé L., Wen X.Y., Tarailo-Graovac M., Balzano S., Royer-Bertrand B., Ashikov A., Garavelli L., Mammi I., Turolla L. et al., 2016. Nature Genetics, 48 (7) pp. 777-784. Peer-reviewed.
Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry.
Venturini G., Koskiniemi-Kuendig H., Harper S., Berson E.L., Rivolta C., 2015/09. Genetics In Medicine : Official Journal of the American College of Medical Genetics, 17 (4) pp. 285-290. Peer-reviewed.
 
A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family.
Nikopoulos K., Butt G.U., Farinelli P., Mudassar M., Domènech-Estévez E., Samara C., Kausar M., Masroor I., Chrast R., Rivolta C. et al., 2015. Clinical Genetics, 89 (4) pp. 510-511. Peer-reviewed.
A New CRB1 Rat Mutation Links Müller Glial Cells to Retinal Telangiectasia.
Zhao M., Andrieu-Soler C., Kowalczuk L., Paz Cortés M., Berdugo M., Dernigoghossian M., Halili F., Jeanny J.C., Goldenberg B., Savoldelli M. et al., 2015. Journal of Neuroscience, 35 (15) pp. 6093-6106. Peer-reviewed.
Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.
Gioia S.A., Bedoni N., von Scheven-Gête A., Vanoni F., Superti-Furga A., Hofer M., Rivolta C., 2015. Scientific Reports, 5 p. 10200. Peer-reviewed.
Comparative genome analysis of Pseudomonas knackmussii B13, the first bacterium known to degrade chloroaromatic compounds.
Miyazaki R., Bertelli C., Benaglio P., Canton J., De Coi N., Gharib W.H., Gjoksi B., Goesmann A., Greub G., Harshman K. et al., 2015. Environmental Microbiology, 17 (1) pp. 91-104.
Genome-wide enrichment analysis between endometriosis and obesity-related traits reveals novel susceptibility loci.
Rahmioglu N., Macgregor S., Drong A.W., Hedman Å.K., Harris H.R., Randall J.C., Prokopenko I., International Endogene Consortium (IEC) The GIANT Consortium, Nyholt D.R., Nyholt D.R. et al., 2015. Human Molecular Genetics, 24 (4) pp. 1185-1199.
Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.
Saqib M.A., Nikopoulos K., Ullah E., Sher Khan F., Iqbal J., Bibi R., Jarral A., Sajid S., Nishiguchi K.M., Venturini G. et al., 2015. Scientific Reports, 5 p. 9965. Peer-reviewed.
Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.
Nikopoulos K., Avila-Fernandez A., Corton M., Lopez-Molina M.I., Perez-Carro R., Bontadelli L., Di Gioia S.A., Zurita O., Garcia-Sandoval B., Rivolta C. et al., 2015. Scientific Reports, 5 p. 13902. Peer-reviewed.
 
Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.
Di Gioia S.A., Farinelli P., Letteboer S.J., Arsenijevic Y., Sharon D., Roepman R., Rivolta C., 2015. Human Molecular Genetics, 24 (12) pp. 3359-3371. Peer-reviewed.
 
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
Safka Brozkova D., Deconinck T., Beth Griffin L., Ferbert A., Haberlova J., Mazanec R., Lassuthova P., Roth C., Pilunthanakul T., Rautenstrauss B. et al., 2015. Brain, 138 (Pt 8) pp. 2161-2172. Peer-reviewed.
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.
Royer-Bertrand B., Castillo-Taucher S., Moreno-Salinas R., Cho T.J., Chae J.H., Choi M., Kim O.H., Dikoglu E., Campos-Xavier B., Girardi E. et al., 2015. Scientific Reports, 5 p. 17154. Peer-reviewed.
 
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.
Segarra N.G., Ballhausen D., Crawford H., Perreau M., Campos-Xavier B., van Spaendonck-Zwarts K., Vermeer C., Russo M., Zambelli P.Y., Stevenson B. et al., 2015. American Journal of Medical Genetics. Part A, 167A (12) pp. 2902-2912. Peer-reviewed.
Sequencing and characterizing the genome of Estrella lausannensis as an undergraduate project: training students and biological insights.
Bertelli C., Aeby S., Chassot B., Clulow J., Hilfiker O., Rappo S., Ritzmann S., Schumacher P., Terrettaz C., Benaglio P. et al., 2015. Frontiers in Microbiology, 6 (101) p. 101. Peer-reviewed.
The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.
Winkler T.W., Justice A.E., Graff M., Barata L., Feitosa M.F., Chu S., Czajkowski J., Esko T., Fall T., Kilpeläinen T.O. et al., 2015. Plos Genetics, 11 (10) pp. e1005378. Peer-reviewed.
 
Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer.
Royer-Bertrand B., Rivolta C., 2015. Cellular and Molecular Life Sciences, 72 (8) pp. 1463-1471. Peer-reviewed.
Dominant PRPF31 Mutations Are Hypostatic to a Recessive CNOT3 Polymorphism in Retinitis Pigmentosa: A Novel Phenomenon of "Linked Trans-Acting Epistasis".
Rose A.M., Shah A.Z., Venturini G., Rivolta C., Rose G.E., Bhattacharya S.S., 2014. Annals of Human Genetics, 78 (1) pp. 62-71. Peer-reviewed.
 
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
Nishiguchi K.M., Avila-Fernandez A., van Huet R.A., Corton M., Pérez-Carro R., Martín-Garrido E., López-Molina M.I., Blanco-Kelly F., Hoefsloot L.H., van Zelst-Stams W.A. et al., 2014. Ophthalmology, 121 (8) pp. 1620-1627. Peer-reviewed.
Molecular Genetics of FAM161A in North American Patients with Early-Onset Retinitis Pigmentosa.
Venturini G., Di Gioia S.A., Harper S., Weigel-Difranco C., Rivolta C., Berson E.L., 2014. Plos One, 9 (3) pp. e92479. Peer-reviewed.
Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa.
Benaglio P., San Jose P.F., Avila-Fernandez A., Ascari G., Harper S., Manes G., Ayuso C., Hamel C., Berson E.L., Rivolta C., 2014. Molecular Vision, 20 pp. 843-851. Peer-reviewed.
Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index.
Hoggart C.J., Venturini G., Mangino M., Gomez F., Ascari G., Zhao J.H., Teumer A., Winkler T.W., Ternikova N., Luan J. et al., 2014. PLoS Genetics, 10 (7) pp. e1004508.
Quality control and conduct of genome-wide association meta-analyses.
Winkler T.W., Day F.R., Croteau-Chonka D.C., Wood A.R., Locke A.E., Mägi R., Ferreira T., Fall T., Graff M., Justice A.E. et al., 2014. Nature Protocols, 9 (5) pp. 1192-1212. Peer-reviewed.
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
Corton M., Nishiguchi K.M., Avila-Fernández A., Nikopoulos K., Riveiro-Alvarez R., Tatu S.D., Ayuso C., Rivolta C., 2013. Plos One, 8 (6) pp. e65574.
 
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
Azzedine H., Zavadakova P., Planté-Bordeneuve V., Vaz Pato M., Pinto N., Bartesaghi L., Zenker J., Poirot O., Bernard-Marissal N., Arnaud Gouttenoire E. et al., 2013. Human Molecular Genetics, 22 (20) pp. 4224-4232.
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.
Randall J.C., Winkler T.W., Kutalik Z., Berndt S.I., Jackson A.U., Monda K.L., Kilpeläinen T.O., Esko T., Mägi R., Li S. et al., 2013. Plos Genetics, 9 (6) pp. e1003500.
 
Target sequencing, cell experiments, and a population study establish endothelial nitric oxide synthase (eNOS) gene as hypertension susceptibility gene.
Salvi E., Kuznetsova T., Thijs L., Lupoli S., Stolarz-Skrzypek K., D'Avila F., Tikhonoff V., De Astis S., Barcella M., Seidlerová J. et al., 2013. Hypertension, 62 (5) pp. 844-852.
 
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.
Nishiguchi K.M., Tearle R.G., Liu Y.P., Oh E.C., Miyake N., Benaglio P., Harper S., Koskiniemi-Kuendig H., Venturini G., Sharon D. et al., 2013. Proceedings of the National Academy of Sciences of the United States of America, 110 (40) pp. 16139-16144. Peer-reviewed.
 
Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome.
Venturini G., Moulin A.P., Deprez M., Uffer S., Bottani A., Zografos L., Rivolta C., 2012. Ophthalmology, 119 (4) pp. 857-864. Peer-reviewed.
CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.
Venturini G., Rose A.M., Shah A.Z., Bhattacharya S.S., Rivolta C., 2012. PLOS Genetics, 8 (11) pp. e1003040.
 
FAM161A, associated with autosomal recessive retinitis pigmentosa,localizes at the level of the photoreceptor cilium and interacts with proteins involved in ciliopathies
Di Gioia S.A., Kostic C., Letteboer S.J.F., Hetterschijt L., Arsenijevic Y., Roepman R., Rivolta C., 2012., Association for Research in Vision and Ophthalmology dans ARVO E-Abstract 1732. Peer-reviewed.
 
FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.
Di Gioia S.A., Letteboer S.J., Kostic C., Bandah-Rozenfeld D., Hetterschijt L., Sharon D., Arsenijevic Y., Roepman R., Rivolta C., 2012. Human Molecular Genetics, 21 (23) pp. 5174-5184. Peer-reviewed.
Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population.
Nishiguchi K.M., Rivolta C., 2012. Plos One, 7 (7) pp. e41902. Peer-reviewed.
 
Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase.
Salvi E., Kutalik Z., Glorioso N., Benaglio P., Frau F., Kuznetsova T., Arima H., Hoggart C., Tichet J., Nikitin Y.P. et al., 2012. Hypertension, 59 (2) pp. 248-255. Peer-reviewed.
 
Identification of an RP1 Prevalent Founder Mutation and Related Phenotype in Spanish Patients with Early-Onset Autosomal Recessive Retinitis.
Avila-Fernandez A., Corton M., Nishiguchi K.M., Muñoz-Sanz N., Benavides-Mori B., Blanco-Kelly F., Riveiro-Alvarez R., Garcia-Sandoval B., Rivolta C., Ayuso C., 2012. Ophthalmology, 119 (12) pp. 2616-2621. Peer-reviewed.
 
Molecular genetics of charcot-marie-tooth disease: from genes to genomes.
Azzedine H., Senderek J., Rivolta C., Chrast R., 2012. Molecular Syndromology, 3 (5) pp. 204-214. Peer-reviewed.
 
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
Chambers J.C., Zhang W., Sehmi J., Li X., Wass M.N., Van der Harst P., Holm H., Sanna S., Kavousi M., Baumeister S.E. et al., 2011/10/16. Nature genetics, 43 (11) pp. 1131-1138. Peer-reviewed.
 
A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa.
Tanackovic G., Ransijn A., Ayuso C., Harper S., Berson E.L., Rivolta C., 2011. American Journal of Human Genetics, 88 (5) pp. 643-649. Peer-reviewed.
Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma.
Valsesia A., Rimoldi D., Martinet D., Ibberson M., Benaglio P., Quadroni M., Waridel P., Gaillard M., Pidoux M., Rapin B. et al., 2011. PLoS One, 6 (4) pp. e18369. Peer-reviewed.
 
Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa.
Benaglio P., McGee T.L., Capelli L.P., Harper S., Berson E.L., Rivolta C., 2011. Human Mutation, 32 (6) pp. E2246-E2258. Peer-reviewed.
 
PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.
Tanackovic G., Ransijn A., Thibault P., Abou Elela S., Klinck R., Berson E.L., Chabot B., Rivolta C., 2011. Human Molecular Genetics, 20 (11) pp. 2116-2130. Peer-reviewed.
 
Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa.
Langmann T., Di Gioia S.A., Rau I., Stöhr H., Maksimovic N.S., Corbo J.C., Renner A.B., Zrenner E., Kumaramanickavel G., Karlstetter M. et al., 2010/09. American Journal of Human Genetics, 87 (3) pp. 376-381. Peer-reviewed.
 
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
Lango Allen H., Estrada K., Lettre G., Berndt S.I., Weedon M.N., Rivadeneira F., Willer C.J., Jackson A.U., Vedantam S., Raychaudhuri S. et al., 2010. Nature, 467 (7317) pp. 832-838. Peer-reviewed.
 
Molecular Analysis of the PTEN Gene in a Choroidal Schwannoma in the Context of a Hamartomatous Syndrome
Venturini G., Uffer S., Zografos L., Rivolta C., Moulin A.P., 2010., ARVO E-Abstract 3509/A14 dans Investigative Ophthalmology and Visual Science. Peer-reviewed.
Ultra high throughput sequencing in human DNA variation detection: a comparative study on the NDUFA3-PRPF31 region.
Benaglio P., Rivolta C., 2010. PLoS One, 5 (9) pp. e13071. Peer-reviewed.
A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance.
Frio T.R., McGee T.L., Wade N.M., Iseli C., Beckmann J.S., Berson E.L., Rivolta C., 2009. Human Mutation, 30 (9) pp. 1340-1347. Peer-reviewed.
 
Mutation screening of the glutamate cysteine ligase modifier (GCLM) gene in patients with schizophrenia.
Butticaz C., Werge T., Beckmann J.S., Cuénod M., Do K.Q., Rivolta C., 2009. Psychiatric genetics, 19 (4) pp. 201-8. Peer-reviewed.
 
PRPF31 alternative splicing and expression in human retina
Tanackovic G., Rivolta C., 2009. Ophthalmic Genetics, 30 (2) pp. 76-83. Peer-reviewed.
Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa.
Rio Frio T., Panek S., Iseli C., Di Gioia S.A., Kumar A., Gal A., Rivolta C., 2009. Molecular Vision, 15 pp. 2627-2633. Peer-reviewed.
 
Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.
Rio Frio T., Wade N.M., Ransijn A., Berson E.L., Beckmann J.S., Rivolta C., 2008. Journal of Clinical Investigation, 118 (4) pp. 1519-1531. Peer-reviewed.
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways.
Fukada T., Civic N., Furuichi T., Shimoda S., Mishima K., Higashiyama H., Idaira Y., Asada Y., Kitamura H., Yamasaki S. et al., 2008. PLoS ONE, 3 (11) pp. e3642. Peer-reviewed.
 
Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.
Rio Frio T., Civic N., Ransijn A., Beckmann J.S., Rivolta C., 2008. Human Molecular Genetics, 17 (20) pp. 3154-3165. Peer-reviewed.
 
Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations
Rivolta C., McGee T. L., Rio Frio T., Jensen R. V., Berson E. L., Dryja T. P., 2006/07. Human Mutation, 27 (7) pp. 644-53. Peer-reviewed.
 
Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases
Rivolta C., Berson E. L., Dryja T. P., 2006. Molecular Vision, 12 pp. 1511-5. Peer-reviewed.
 
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa
Seyedahmadi B. J., Rivolta C., Keene J. A., Berson E. L., Dryja T. P., 2004/08. Experimental Eye Research, 79 (2) pp. 167-73. Peer-reviewed.
 
Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis
Rivolta C., Ayyagari R., Sieving P. A., Berson E. L., Dryja T. P., 2003/02. Molecular Vision, 9 pp. 49-51. Peer-reviewed.
 
Essential Bacillus subtilis genes.
Kobayashi K., Ehrlich S.D., Albertini A., Amati G., Andersen K.K., Arnaud M., Asai K., Ashikaga S., Aymerich S., Bessieres P. et al., 2003. Proceedings of the National Academy of Sciences of the United States of America, 100 (8) pp. 4678-4683. Peer-reviewed.
 
Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function.
Wang X., Xu S., Rivolta C., Li L.Y., Peng G.H., Swain P.K., Sung C.H., Swaroop A., Berson E.L., Dryja T.P. et al., 2002/11. Journal of Biological Chemistry, 277 (45) pp. 43288-43300. Peer-reviewed.
 
Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A
Rivolta C., Berson E. L., Dryja T. P., 2002/11. Archives of Ophthalmology, 120 (11) pp. 1566-71. Peer-reviewed.
 
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns
Rivolta C., Sharon D., DeAngelis M. M., Dryja T. P., 2002/05. Human Molecular Genetics, 11 (10) pp. 1219-27. Peer-reviewed.
 
Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX
Rivolta C., Berson E. L., Dryja T. P., 2001/12. Human Mutation, 18 (6) pp. 488-98. Peer-reviewed.
 
Novel frameshift mutations in CRX associated with Leber congenital amaurosis
Rivolta C., Peck N. E., Fulton A. B., Fishman G. A., Berson E. L., Dryja T. P., 2001/12. Human Mutation, 18 (6) pp. 550-1. Peer-reviewed.
 
Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss
Rivolta C., Sweklo E. A., Berson E. L., Dryja T. P., 2000/06. American Journal of Human Genetics, 66 (6) pp. 1975-8. Peer-reviewed.
 
Genetic and physical maps of the Bacillus subtilis chromosome
Rivolta C., Pagni M., 1999/04. Genetics, 151 (4) pp. 1239-44. Peer-reviewed.
 
Bacillus subtilis contains two small c-type cytochromes with homologous heme domains but different types of membrane anchors.
Bengtsson J., Rivolta C., Hederstedt L., Karamata D., 1999. The Journal of biological chemistry, 274 (37) pp. 26179-84. Peer-reviewed.
 
Subunit II of Bacillus subtilis cytochrome c oxidase is a lipoprotein
Bengtsson J., Tjalsma H., Rivolta C., Hederstedt L., 1999/01. Journal of Bacteriology, 181 (2) pp. 685-8. Peer-reviewed.
 
The product of the yvoC (gerF) gene of Bacillus subtilis is required for spore germination
Robinson C., Rivolta C., Karamata D., Moir A., 1998/11. Microbiology, 144 ( Pt 11) pp. 3105-9. Peer-reviewed.
 
A novel protein kinase that controls carbon catabolite repression in bacteria
Reizer J., Hoischen C., Titgemeyer F., Rivolta C., Rabus R., Stulke J., Karamata D., Saier, M. H., Jr. , Hillen W., 1998/03. Molecular Microbiology, 27 (6) pp. 1157-69. Peer-reviewed.
 
A 35.7 kb DNA fragment from the Bacillus subtilis chromosome containing a putative 12.3 kb operon involved in hexuronate catabolism and a perfectly symmetrical hypothetical catabolite-responsive element.
Rivolta C., Soldo B., Lazarevic V., Joris B., Mauël C., Karamata D., 1998. Microbiology, 144 (Pt 4) pp. 877-884. Peer-reviewed.
 
The complete genome sequence of the gram-positive bacterium Bacillus subtilis.
Kunst F., Ogasawara N., Moszer I., Albertini A.M., Alloni G., Azevedo V., Bertero M.G., Bessières P., Bolotin A., Borchert S. et al., 1997. Nature, 390 (6657) pp. 249-56. Peer-reviewed.
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