C. Rivolta

发表

FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.

Silvio Alessandro Di Gioia, S. Letteboer, C. Kostic, 2012, Human molecular genetics.

Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.

Silvio Alessandro Di Gioia, S. Letteboer, D. Sharon, 2015, Human molecular genetics.

Essential Bacillus subtilis genes

S. Ehrlich, A. Danchin, S. Foster, 2003, Proceedings of the National Academy of Sciences of the United States of America.

Mineralocorticoid receptor antagonism limits experimental choroidal neovascularization and structural changes associated with neovascular age-related macular degeneration

C. Rivolta, Min Zhao, I. Mantel, 2019, Nature Communications.

Hundreds of variants clustered in genomic loci and biological pathways affect human height

Ayellet V. Segrè, Cameron D. Palmer, P. Elliott, 2010, Nature.

Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits

Ross M. Fraser, M. Jarvelin, L. Liang, 2013, PLoS genetics.

Structurally-controlled instability, damage and slope failure in a porphyry rock mass

F. Agliardi, C. Rivolta, G. Crosta, 2013 .

The complete genome sequence of the Gram-positive bacterium Bacillus subtilis

A. Goffeau, D. Noone, B. Purnelle, 1997, Nature.

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

Tanya M. Teslovich, May E. Montasser, Toshiko Tanaka, 2015, PLoS Genetics.

CNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa with Incomplete Penetrance

Amna Z. Shah, C. Rivolta, S. Bhattacharya, 2012, PLoS genetics.

Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing.

Nicolò Riggi, G. Ciriello, C. Rivolta, 2016, American journal of human genetics.

An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.

N. Brunetti‐Pierri, C. Rivolta, M. Filocamo, 2020, Human molecular genetics.

Network-Guided Analysis of Genes with Altered Somatic Copy Number and Gene Expression Reveals Pathways Commonly Perturbed in Metastatic Melanoma

Ioannis Xenarios, C. V. Jongeneel, Stylianos E. Antonarakis, 2011, PloS one.

Mutation screening of the glutamate cysteine ligase modifier (GCLM) gene in patients with schizophrenia

T. Werge, J. Beckmann, M. Cuénod, 2009, Psychiatric genetics.

Target Sequencing, Cell Experiments, and a Population Study Establish Endothelial Nitric Oxide Synthase (eNOS) Gene as Hypertension Susceptibility Gene

J. Beckmann, J. Staessen, L. Thijs, 2013, Hypertension.

PRPF31 Alternative Splicing and Expression in Human Retina

C. Rivolta, G. Tanacković, 2009, Ophthalmic genetics.

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

Tanya M. Teslovich, May E. Montasser, Toshiko Tanaka, 2016, PLoS genetics.

Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease.

Brian J. Stevenson, R. Baron, R. Eastell, 2016, The New England journal of medicine.

Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.

B. J. Klevering, C. Klaver, A. D. den Hollander, 2019, Investigative ophthalmology & visual science.

Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome.

C. Rivolta, A. Bottani, S. Uffer, 2012, Ophthalmology.

Systematic detection of Mendelian and non-Mendelian variants associated with retinitis pigmentosa by genome-wide association study

T. Tsunoda, T. Nakazawa, C. Rivolta, 2019, bioRxiv.

c.-61G>A in OVOL2 is a Pathogenic 5′ Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1

C. Rivolta, H. Scholl, M. Folcher, 2021, Cornea.

Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa

Silvio Alessandro Di Gioia, C. Rivolta, C. Iseli, 2009, Molecular vision.

Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer

C. Rivolta, B. Royer-Bertrand, 2014, Cellular and Molecular Life Sciences.

Multiple annular circular aperture: maxima and minima of the diffraction pattern.

C. Rivolta, 1987, Applied optics.

Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index

C. Hoggart, T. Spector, J. Bell, 2014 .

The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways

J. Beckmann, O. Ohara, T. Hirano, 2008, PloS one.

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

Carlo Rivolta, D. Sharon, C. Rivolta, 2002, Human molecular genetics.

Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa

C. Rivolta, E. Berson, C. Ayuso, 2011 .

Edinburgh Research Explorer Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index

C. Hoggart, T. Spector, J. Bell, 2017 .

Clinical characteristics and high resolution retinal imaging of retinitis pigmentosa caused by RP1 gene variants

T. Nakazawa, C. Rivolta, K. Sonoda, 2020, Japanese Journal of Ophthalmology.

Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.

C. Rivolta, M. Cortón, C. Ayuso, 2012, Ophthalmology.

A first update on mapping the human genetic architecture of COVID-19

Eurie L. Hong, E. F. Perez, Rachel G Liao, 2022, Nature.

Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants

C. Rivolta, A. Superti-Furga, M. Quinodoz, 2021, Genes.

Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

C. Rivolta, J. Tena, J. Gómez-Skarmeta, 2022, bioRxiv.

New variants and in silico analyses in GRK1 associated Oguchi disease

Rachel L. Taylor, C. Rivolta, D. Donnelly, 2020, Human mutation.

New pathogenic variants and insights into pathogenic mechanisms in GRK1-related Oguchi disease

Rachel L. Taylor, C. Rivolta, D. Donnelly, 2020, bioRxiv.

Anisometropia and asymmetric ABCA4-related cone-rod dystrophy

C. Rivolta, A. Sousa, Karolina Kaminska, 2022, Ophthalmic genetics.

UV light signature in conjunctival melanoma; not only skin should be protected from solar radiation

C. Rivolta, S. Leyvraz, L. Zografos, 2015, Journal of Human Genetics.

Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease

C. Rivolta, S. Nampoothiri, A. Kariminejad, 2016, Arthritis & rheumatology.

associated with the development of atopic dermatitis in 1 infancy : a prospective birth cohort study 2

C. Rivolta, C. Gallay, S. Christen-Zaech, 2020 .

Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases.

C. Rivolta, T. Dryja, E. Berson, 2006, Molecular vision.

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.

L. Schöls, C. Rivolta, O. Poirot, 2013, Human molecular genetics.

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

C. Rivolta, J. Tena, J. Gómez-Skarmeta, 2022, American journal of human genetics.

In Situ and Remote Long Term Real-Time Monitoring of a Large Alpine Rock Slide

F. Agliardi, C. Rivolta, G. Crosta, 2013 .

Deep seated rock slope instabilities, long term real-time monitoring and collapse forecasting

F. Agliardi, C. Rivolta, G. Crosta, 2012 .

Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies

Karen M. Oprych, C. Rivolta, H. Scholl, 2022, Human molecular genetics.

A novel protein kinase that controls carbon catabolite repression in bacteria

C. Rivolta, R. Rabus, D. Karamata, 1998, Molecular microbiology.

The product of the yvoC (gerF) gene of Bacillus subtilis is required for spore germination.

A. Moir, C. Rivolta, D. Karamata, 1998, Microbiology.

Genetic and physical maps of the Bacillus subtilis chromosome.

M. Pagni, C. Rivolta, 1999, Genetics.

Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer

C. Rivolta, B. Royer-Bertrand, 2015, Cellular and Molecular Life Sciences.

Novel frameshift mutations in CRX associated with de novo and autosomal dominant Leber Congenital Amaurosis

A. Fulton, G. Fishman, C. Rivolta, 2021 .

Genes Associated with Retinitis Pigmentosa and Allied Diseases Are Frequently Mutated in the General Population

C. Rivolta, K. Nishiguchi, 2012, PloS one.

Comparative genome analysis of Pseudomonas knackmussii B13, the first bacterium known to degrade chloroaromatic compounds.

A. Goesmann, L. Falquet, Shantanu Roy, 2015, Environmental microbiology.

Conjunctival Melanoma Targeted Therapy: MAPK and PI3K/mTOR Pathways Inhibition.

Nicolò Riggi, C. Rivolta, S. Leyvraz, 2019, Investigative ophthalmology & visual science.

Identification of New Vulnerabilities in Conjunctival Melanoma Using Image-Based High Content Drug Screening

G. Turcatti, Nicolò Riggi, C. Rivolta, 2022, Cancers.

Genomic and transcriptomic landscape of conjunctival melanoma.

Nicolò Riggi, C. Rivolta, S. Leyvraz, 2020, PLoS genetics.

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Dian Donnai, Sheila Unger, Andrea Superti-Furga, 2016, Nature Genetics.

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

Brian J. Stevenson, G. Superti-Furga, C. Ross, 2017, Nature genetics.

Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

C. Rivolta, M. Cortón, C. Ayuso, 2013, PloS one.

Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.

J. Beckmann, C. Rivolta, T. Rio Frio, 2008, Human molecular genetics.

Two transacting eQTLs modulate the penetrance of PRPF 31 mutations

J. Beckmann, C. Rivolta, A. Ransijn, 2008 .

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

Z. Kutalik, Y. Kamatani, T. Nakazawa, 2018, Nature Communications.

PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.

C. Rivolta, E. Berson, B. Chabot, 2011, Human molecular genetics.

Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator

S. Mundlos, M. Spielmann, C. Rivolta, 2021, Nature.

Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa

Paola Benaglio, Carlo Rivolta, T. L. McGee, 2011, Human mutation.

Molecular Genetics of Charcot-Marie-Tooth Disease: From Genes to Genomes

C. Rivolta, J. Senderek, R. Chrast, 2012, Molecular Syndromology.

Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature

C. Rivolta, A. Superti-Furga, É. Roulet-Perez, 2020, BMC Neurology.

Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

G. Superti-Furga, C. Rivolta, E. Dikoglu, 2015, Scientific Reports.

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination

C. Rivolta, T. Langmann, P. Farinelli, 2016, American journal of human genetics.

Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies

C. Rivolta, M. Mojarrad, Arash Salmaninejad, 2021, Scientific Reports.

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.

C. Rivolta, T. Dryja, E. Berson, 2000, American journal of human genetics.

Mapping the human genetic architecture of COVID-19

Mattia G. Bergomi, Christopher M. DeBoever, Matthew A. Wiles, 2021, Nature.

Genetic evidence of assortative mating in humans

Tanya M. Teslovich, Ross M. Fraser, Brendan P. Zietsch, 2017, Nature Human Behaviour.

Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases

D. Sharon, C. Rivolta, Mor Hanany, 2020, Proceedings of the National Academy of Sciences.

Genotype-phenotype correlations in a Spanish cohort of 506 families with bi-allelic ABCA4 pathogenic variants.

C. Rivolta, M. Cortón, I. Mahíllo-Fernández, 2020, American journal of ophthalmology.

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

Makoto Nakamura, Paola Benaglio, Shinji Ueno, 2013, Proceedings of the National Academy of Sciences.

A single‐base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance

T. L. McGee, J. Beckmann, C. Rivolta, 2009, Human mutation.

OR2W3 sequence variants are unlikely to cause inherited retinal diseases

D. Sharon, C. Rivolta, A. Kimchi, 2016, Ophthalmic genetics.

Transcriptomic Signature Differences Between SARS-CoV-2 and Influenza Virus Infected Patients

N. Guex, M. Delorenzi, C. Rivolta, 2021, Frontiers in Immunology.

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

Takafumi N. Yamaguchi, Theodore G. Drivas, Klaudia Walter, 2022, medRxiv.

Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity

P. Stenson, D. Cooper, C. Rivolta, 2022, American journal of human genetics.

Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4

C. Rivolta, A. Superti-Furga, M. Quinodoz, 2019, Genes.

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy

Silvio Alessandro Di Gioia, C. Rivolta, M. Cortón, 2015, Scientific Reports.

Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies

C. Rivolta, R. Bibi, E. Ullah, 2015, Scientific Reports.

Dominant PRPF31 Mutations Are Hypostatic to a Recessive CNOT3 Polymorphism in Retinitis Pigmentosa: A Novel Phenomenon of “Linked Trans-Acting Epistasis”

Amna Z. Shah, C. Rivolta, S. Bhattacharya, 2013, Annals of human genetics.

Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

I. Gut, B. Wirth, F. Muntoni, 2020, The Journal of molecular diagnostics : JMD.

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

S. Mundlos, S. Mead, M. Mhlanga, 2020, American journal of human genetics.

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

A. Hoischen, C. Rivolta, P. Farinelli, 2022, Frontiers in Cell and Developmental Biology.

Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa

Amna Z. Shah, A. Chakravarti, C. Rivolta, 2016, Scientific Reports.

Variation in retinitis pigmentosa‐11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations

T. L. McGee, R. Jensen, C. Rivolta, 2006, Human mutation.

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

H. Hakonarson, B. Gener, D. Sharon, 2021, Scientific reports.

Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice

C. Rivolta, E. Tucker, V. Ramamurthy, 2019, PLoS genetics.

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.

C. Klaver, C. Rivolta, P. Farinelli, 2016, Human molecular genetics.

Correction: The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways

J. Beckmann, O. Ohara, T. Hirano, 2008, PLoS ONE.

Reciprocal modulation of mesenchymal stem cells and tumor cells promotes lung cancer metastasis

Nicolò Riggi, P. Provero, I. Stamenkovic, 2018, EBioMedicine.

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.

Silvio Alessandro Di Gioia, Y. Arsenijévic, R. Roepman, 2016, American journal of human genetics.

Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant

M. Baumgartner, C. Francklyn, J. Ghika, 2019, Annals of clinical and translational neurology.

Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant

M. Baumgartner, C. Francklyn, J. Ghika, 2019, Annals of clinical and translational neurology.

Barrier to Autointegration Factor Interacts with the Cone-Rod Homeobox and Represses Its Transactivation Function*

Siqun Xu, A. Swaroop, C. Rivolta, 2002, The Journal of Biological Chemistry.

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

C. Rivolta, M. Mojarrad, Arash Salmaninejad, 2021, Nature Communications.

Ultra High Throughput Sequencing in Human DNA Variation Detection: A Comparative Study on the NDUFA3-PRPF31 Region

C. Rivolta, P. Benaglio, 2010, PloS one.

Herpes simplex encephalitis in adult patients with MASP-2 deficiency

C. Rivolta, V. Zoete, O. Michielin, 2019, PLoS pathogens.

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.

C. Rivolta, T. Dryja, E. Berson, 2002, Archives of ophthalmology.

Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa

C. Rivolta, E. Berson, P. Benaglio, 2014, Molecular vision.

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina

Sheila Unger, Andrea Superti-Furga, Brian J. Stevenson, 2015, American journal of medical genetics. Part A.

Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies

C. Rivolta, M. Mojarrad, Arash Salmaninejad, 2020, Scientific Reports.

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

B. J. Klevering, Silvio Alessandro Di Gioia, C. Rivolta, 2014, Ophthalmology.

Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome

C. Rivolta, A. Superti-Furga, Nicola Bedoni, 2015, Scientific Reports.

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

A. Ferbert, C. Rivolta, A. Antonellis, 2015, Brain : a journal of neurology.

Early onset non-syndromic retinal degeneration due to variants in INPP5E: phenotypic expansion of the ciliary gene previously associated with Joubert syndrome

A. Fulton, D. Sharon, C. Rivolta, 2020, medRxiv.

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

A. Fulton, D. Sharon, C. Rivolta, 2021, NPJ genomic medicine.

Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.

J. Beckmann, C. Rivolta, E. Berson, 2008, The Journal of clinical investigation.

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

L. Zon, Elliott J. Hagedorn, L. Notarangelo, 2017, The Journal of experimental medicine.

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

Silvio Alessandro Di Gioia, C. Rivolta, N. Matsumoto, 2019, Genetics in Medicine.

A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa

T. Tsunoda, T. Nakazawa, C. Rivolta, 2021, Communications biology.

Dominant Leber congenital amaurosis, cone‐rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX

C. Rivolta, T. Dryja, E. Berson, 2001, Human mutation.

A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa.

C. Rivolta, E. Berson, C. Ayuso, 2011, American journal of human genetics.

New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV

C. Rivolta, M. Damme, M. Quinodoz, 2020, Human mutation.

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

C. Hoggart, J. Beckmann, Z. Kutalik, 2012, Hypertension.

Subunit II of Bacillus subtilis Cytochromec Oxidase Is a Lipoprotein

C. Rivolta, H. Tjalsma, L. Hederstedt, 1999, Journal of bacteriology.

Bacillus subtilis Contains Two Smallc-Type Cytochromes with Homologous Heme Domains but Different Types of Membrane Anchors*

C. Rivolta, D. Karamata, L. Hederstedt, 1999, The Journal of Biological Chemistry.

CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels

C. Rivolta, P. Farinelli, J. Andersen, 2020, bioRxiv.

A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family

C. Rivolta, P. Farinelli, S. Siddiqi, 2016, Clinical genetics.

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

C. Rivolta, M. Cortón, C. Ayuso, 2016, PloS one.

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility

C. Bachert, C. Rivolta, P. Farinelli, 2020, Human mutation.

Expanded phenotypic spectrum of retinopathies associated with autosomal recessive and dominant mutations in PROM1.

C. Rivolta, M. Cortón, C. Ayuso, 2019, American journal of ophthalmology.

A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans

T. Dierks, D. Sharon, C. Rivolta, 2018, Genetics in Medicine.

A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans

T. Dierks, D. Sharon, C. Rivolta, 2018, Genetics in Medicine.

Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

C. Rivolta, T. Dryja, E. Berson, 2004, Experimental eye research.

Sequencing and characterizing the genome of Estrella lausannensis as an undergraduate project: training students and biological insights

L. Farinelli, A. Goesmann, L. Falquet, 2015, Front. Microbiol..

DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders.

Silvio Alessandro Di Gioia, C. Rivolta, A. Superti-Furga, 2017, American journal of human genetics.

Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness

C. Rivolta, M. Quinodoz, M. A. Naeem, 2021, Ophthalmic Research.

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.

C Rivolta, C. Rivolta, D. Karamata, 1998, Microbiology.

SPATA7 -Associated Juvenile Retinitis Pigmentosa in Two Brothers from a Consanguineous Iraqi Family in Switzerland

C. Rivolta, P. Escher, F. Roulez, 2022, Klinische Monatsblätter für Augenheilkunde.

In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screening.

C. Rivolta, V. Katanaev, M. Savitsky, 2023, Med.

Rockfall forecasting and risk management along a major transportation corridor in the Alps through ground-based radar interferometry

Nicola Casagli, Lorenzo Solari, Tommaso Carlà, 2019, Landslides.

A New CRB1 Rat Mutation Links Müller Glial Cells to Retinal Telangiectasia

C. Rivolta, J. Wijnholds, M. Dernigoghossian, 2015, The Journal of Neuroscience.

Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis.

P. Sieving, C. Rivolta, E. Berson, 2003, Molecular vision.

Novel frameshift mutations in CRX associated with Leber congenital amaurosis

A. Fulton, G. Fishman, C. Rivolta, 2001, Human mutation.

The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis

C. Rivolta, Katarina Cisarova, M. Quinodoz, 2023, PNAS nexus.

Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome

T. Papathomas, C. Rivolta, A. Rehman, 2020, Ophthalmology and Therapy.

Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.

J. Corbo, E. Zrenner, Silvio Alessandro Di Gioia, 2010, American journal of human genetics.

Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype

A. Need, C. Rivolta, M. Bleda, 2022, npj Genomic Medicine.

Long-term evolution and early warning strategies for complex rockslides by real-time monitoring

C. Rivolta, G. B. Crosta, F. Agliardi, 2017, Landslides.

Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index

David M. Evans, C. Hoggart, M. Jarvelin, 2014, PLoS genetics.

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

Z. Kutalik, Y. Kamatani, T. Nakazawa, 2018, bioRxiv.

Sinkhole risk mapping and early warning: the case of Camaiore (Italy)

C. Rivolta, E. Intrieri, P. Confuorto, 2023, Frontiers in Earth Science.

Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry

C. Rivolta, E. Berson, Giulia Venturini, 2014, Genetics in Medicine.

Synthase Hypertension Susceptibility Locus in the Promoter Region of Endothelial NO Polymorphism Array and Case-Control Design Identifies a Novel Essential Genomewide Association Study Using a High-Density Single Nucleotide

C. Hoggart, J. Beckmann, Z. Kutalik, 2011 .

High-efficiency base editing for Stargardt disease in mice, non-human primates, and human retina tissue

B. Roska, C. Rivolta, H. Scholl, 2023, bioRxiv.

Genetic predisposition and environmental factors associated with the development of atopic dermatitis in infancy: a prospective birth cohort study

C. Rivolta, C. Gallay, S. Christen-Zaech, 2020, European Journal of Pediatrics.

Advantages and drawbacks in the use of non-contact radar techniques to perform dynamic measurements

Marcello Vanali, Alfredo Cigada, Anna Maria Chiara Cappellini, 2014 .

Use of Non Contact Radar Techniques to Dynamics Measurement Purposes

Marcello Vanali, Anna Maria Chiara Cappellini, D. Leva, 2012 .

Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression

D. Sharon, C. Rivolta, E. Banin, 2018, Molecular vision.

Molecular Genetics of FAM161A in North American Patients with Early-Onset Retinitis Pigmentosa

Silvio Alessandro Di Gioia, C. Rivolta, E. Berson, 2014, PloS one.

A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

C. Rivolta, P. Farinelli, A. Superti-Furga, 2019, Ophthalmic genetics.

Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.

S. Antonarakis, C. Pournaras, C. Rivolta, 2019, Human molecular genetics.

Mapping the human genetic architecture of COVID-19

Mattia G. Bergomi, Christopher M. DeBoever, Matthew A. Wiles, 2021, Nature.

Mapping the human genetic architecture of COVID-19

Eurie L. Hong, E. F. Perez, Rachel G Liao, 2021 .

Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder

C. Rivolta, J. McGrath, M. Folcher, 2022, Human Molecular Genetics.

Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene

C. Rivolta, F. Candotti, A. Bottani, 2021, Clinical genetics.

A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome

C. Rivolta, M. Quinodoz, H. Kausar, 2022, Ophthalmic genetics.

Edinburgh Research Explorer The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape

Tanya M. Teslovich, May E. Montasser, D. Hernandez, 2022 .

PLEKHG 5 deficiency leads to an intermediate form of autosomal-recessive Charcot – Marie – Tooth disease

L. Schöls, C. Rivolta, O. Poirot, 2013 .

Mutation screening of the glutamate cysteine ligase modifier (GCLM) gene in patients with schizophrenia

T. Werge, J. Beckmann, M. Cuénod, 2009, Psychiatric genetics.

Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.

J. Beckmann, C. Rivolta, E. Berson, 2008, The Journal of clinical investigation.

Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression

D. Sharon, C. Rivolta, E. Banin, 2021, Molecular vision.

DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders.

Silvio Alessandro Di Gioia, C. Rivolta, A. Superti-Furga, 2017, American journal of human genetics.

Depth of focus of optical systems with a small amount of spherical aberration.

C Rivolta, C. Rivolta, 1990, Applied optics.

A novel phenotype associated with the R162W variant in the KCNJ13 gene

C. Rivolta, Marion Schroeder, U. Kjellström, 2022, Ophthalmic genetics.

Supplementary Material 3

Damien C. Croteau Chonka, Nancy L. Heard Costa, Ross M. Fraser, 2008 .

Supplementary Material 1

Damien C. Croteau Chonka, Nancy L. Heard Costa, Ross M. Fraser, 2010 .

Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa

C. Rivolta, E. Berson, P. Benaglio, 2014, Molecular vision.

A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing

C. Rivolta, M. Folcher, M. Quinodoz, 2023, Ophthalmic Research.

A Single-Base Substitution Within an Intronic Repetitive Element in PRPF31 Causes Dominant Retinitis Pigmentosa With Reduced Penetrance

T. L. McGee, J. Beckmann, C. Rivolta, 2009 .

Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

C. Rivolta, M. Cortón, C. Ayuso, 2016, PLoS ONE.