List of works - Carlo Rivolta

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

scientific article published on April 1998

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

scientific article

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

scientific article published on 28 June 2019

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

scientific article published on 18 August 2015

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

scientific article

A new CRB1 rat mutation links Müller glial cells to retinal telangiectasia.

scientific article

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

scientific article published on 10 August 2022

A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

scientific article published on 23 April 2019

A novel protein kinase that controls carbon catabolite repression in bacteria

scientific article published in March 1998

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

scientific article published on September 2009

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

scientific article published on 3 March 2022

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

scientific article published on 19 May 2015

Anisometropia and asymmetric ABCA4 -related cone-rod dystrophy

scientific article published on 4 July 2022

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

scientific article published on 22 January 2021

Bacillus subtilis contains two small c-type cytochromes with homologous heme domains but different types of membrane anchors.

scientific article published in September 1999

Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function

scientific article

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

scientific article

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

scientific article published on 29 June 2021

CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.

scientific article

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

scientific article published on 26 January 2012

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

scientific article published on 28 May 2014

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

scientific article published on 13 October 2016

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

scientific article published in August 2004

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

scientific article published on 31 March 2016

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

scientific article

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

scientific article published on 13 November 2008

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

scientific journal article

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

scientific article published on December 1, 2001

Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".

scientific article

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

scientific article

Essential Bacillus subtilis genes

scientific article

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

scientific article (publication date: 18 February 2003)

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

scientific article published on 31 March 2014

Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis

scientific article

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

scientific article published on 21 December 2019

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

scientific article

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

scientific article published on 30 January 2020

Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population

scientific article

Genetic and physical maps of the Bacillus subtilis chromosome

scientific article published on April 1999

Genetic diversity of a late prehispanic group of the Quebrada de Humahuaca, northwestern Argentina.

scientific article published on 24 June 2014

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

scientific article published on 19 December 2011

Genomic and transcriptomic landscape of conjunctival melanoma

scientific article published on 31 December 2020

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

scientific article published on 6 May 2015

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

scientific article

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

scientific article published on 20 August 2012

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

scientific article

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

scientific article published on 5 March 2015

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

scientific article

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

scientific article

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

scientific article published in Nature Communications

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

scientific article

Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.

scientific article

Molecular genetics of charcot-marie-tooth disease: from genes to genomes

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 19 August 2019

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

scientific journal article

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

scientific article

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

scientific article

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

scientific article published on 6 January 2022

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

scientific article published on 23 May 2016

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

scientific article published on 19 August 2015

Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma

scientific article

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

scientific article published on 10 December 2020

New variants and in silico analyses in GRK1 associated Oguchi disease

scientific article published on 30 November 2020

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

scientific article published on 24 February 2011

Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa

scientific article

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

scientific article

Novel frameshift mutations in CRX associated with Leber congenital amaurosis

scientific article (publication date: December 2001)

OR2W3 sequence variants are unlikely to cause inherited retinal diseases

scientific article published on 18 February 2016

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

scientific article published on 17 June 2013

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

scientific article

PRPF31 alternative splicing and expression in human retina

scientific article published in June 2009

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.

scientific article

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

scientific article

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

scientific article

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

scientific article published on 19 February 2015

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits

scientific article

Subunit II of Bacillus subtilis cytochrome c oxidase is a lipoprotein.

scientific article

Target sequencing, cell experiments, and a population study establish endothelial nitric oxide synthase (eNOS) gene as hypertension susceptibility gene

scientific article published on 9 September 2013

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

scientific article

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

scientific article published on 02 July 2019

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

scientific article

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

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

scientific article published in November 1998

The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways

scientific article

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

scientific article

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

scientific article published on 25 September 2014

Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations

scientific article

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

scientific article

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

scientific article

Ultra high throughput sequencing in human DNA variation detection: a comparative study on the NDUFA3-PRPF31 region

scientific article

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

scientific article published on July 2006

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

scientific article published on 30 December 2014

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

scientific article published on 16 September 2013

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

scientific article published on 21 January 2020

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

scholarly article

List of works by Carlo Rivolta

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

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

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

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

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

A new CRB1 rat mutation links Müller glial cells to retinal telangiectasia.

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

A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

A novel protein kinase that controls carbon catabolite repression in bacteria

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

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

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

Anisometropia and asymmetric ABCA4 -related cone-rod dystrophy

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

Bacillus subtilis contains two small c-type cytochromes with homologous heme domains but different types of membrane anchors.

Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function

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

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

CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.

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

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

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

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

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

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

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

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

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

Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".

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

Essential Bacillus subtilis genes

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

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

Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis

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

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

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

Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population

Genetic and physical maps of the Bacillus subtilis chromosome

Genetic diversity of a late prehispanic group of the Quebrada de Humahuaca, northwestern Argentina.

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

Genomic and transcriptomic landscape of conjunctival melanoma

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

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

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

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

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

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

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

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

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

Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.

Molecular genetics of charcot-marie-tooth disease: from genes to genomes

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

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

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

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

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

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

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

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

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

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

Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma

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

New variants and in silico analyses in GRK1 associated Oguchi disease

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

Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa

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

Novel frameshift mutations in CRX associated with Leber congenital amaurosis

OR2W3 sequence variants are unlikely to cause inherited retinal diseases

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

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

PRPF31 alternative splicing and expression in human retina

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.

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

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

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

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits