List of works - Rosanna Asselta

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

scientific article

Loss-of-function mutations in APOC3, triglycerides, and coronary disease

scientific article published on 18 June 2014

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

scientific article

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

scientific article published on 2 March 2016

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks

scientific article

Inactivating mutations in NPC1L1 and protection from coronary heart disease

scientific article

Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome

scientific article published in February 1998

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease

scientific article published on February 2017

Survival and dementia in GBA-associated Parkinson's disease: The mutation matters

scientific article

Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies

scientific article

Genetic association and altered gene expression of mir-155 in multiple sclerosis patients

scientific article published on December 2011

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing

scientific article

Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels

scientific article published on December 2016

cDNA cloning of turtle prion protein

article

The molecular basis of quantitative fibrinogen disorders.

scientific article published on October 2006

Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease

scientific article

Genetic diagnosis of haemophilia and other inherited bleeding disorders.

scientific article

Factor V deficiency.

scientific article published on June 2009

Phase behavior and critical activated dynamics of limited-valence DNA nanostars

scientific article published on 09 September 2013

PRKCA and multiple sclerosis: association in two independent populations

scientific article published on 31 March 2006

Activation of NF-kappaB by IL-1beta blocks IL-6-induced sustained STAT3 activation and STAT3-dependent gene expression of the human gamma-fibrinogen gene

scientific article published on May 2007

Notch1 regulates chemotaxis and proliferation by controlling the CC-chemokine receptors 5 and 9 in T cell acute lymphoblastic leukaemia

scientific article published on 09 December 2011

Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction

scientific article published on 3 February 2015

Glucocerebrosidase mutations in primary parkinsonism

scientific article

Inherited defects of coagulation factor V: the hemorrhagic side.

scientific article

Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population

scientific article

A functional variant in ERAP1 predisposes to multiple sclerosis

scientific article

Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aalpha -chain gene are not associated with the decay of the mutant mRNAs

article

The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis.

scientific article published on 07 March 2017

No association of GBA mutations and multiple system atrophy.

scientific article published in April 2013

Polymorphisms in the genes coding for iron binding and transporting proteins are associated with disability, severity, and early progression in multiple sclerosis

scientific article

Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis.

scientific article

Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms

scientific article published in January 2001

Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis

scientific article

The association of factor V Leiden with myocardial infarction is replicated in 1880 patients with premature disease

scientific article published in October 2010

LRRK2 mutations in Parkinson's disease: confirmation of a gender effect in the Italian population

scientific article

Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta -chain gene causing activation of cryptic splice sites

article

Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism.

scientific article

Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families

scientific article published in August 2002

A new exon in the 5' untranslated region of the connexin32 gene

scientific article published in January 1999

Missense or splicing mutation? The case of a fibrinogen Bbeta-chain mutation causing severe hypofibrinogenemia

scientific article

Analysis of the 16S rRNA gene sequence of the coryneform bacterium associated with hyperkeratotic dermatitis of athymic nude mice and development of a PCR-based detection assay

scientific article published in August 1998

DNAJC12 and dopa-responsive nonprogressive parkinsonism

scientific article published on 11 September 2017

Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: Broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations

scientific article published on 19 June 2003

First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.

scientific article published on 10 December 2015

Coagulation factor V.

scientific article

An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate

scientific article published on 8 October 2014

Crohn's disease loci are common targets of protozoa-driven selection

scientific article published on 6 February 2013

Autosomal recessive deficiencies of coagulation factors

scientific article

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

scientific article

List of works by Rosanna Asselta

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

Loss-of-function mutations in APOC3, triglycerides, and coronary disease

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks

Inactivating mutations in NPC1L1 and protection from coronary heart disease

Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease

Survival and dementia in GBA-associated Parkinson's disease: The mutation matters

Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies

Genetic association and altered gene expression of mir-155 in multiple sclerosis patients

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing

Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels

cDNA cloning of turtle prion protein

The molecular basis of quantitative fibrinogen disorders.

Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease

Genetic diagnosis of haemophilia and other inherited bleeding disorders.

Factor V deficiency.

Phase behavior and critical activated dynamics of limited-valence DNA nanostars

PRKCA and multiple sclerosis: association in two independent populations

Activation of NF-kappaB by IL-1beta blocks IL-6-induced sustained STAT3 activation and STAT3-dependent gene expression of the human gamma-fibrinogen gene

Notch1 regulates chemotaxis and proliferation by controlling the CC-chemokine receptors 5 and 9 in T cell acute lymphoblastic leukaemia

Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction

Glucocerebrosidase mutations in primary parkinsonism

Inherited defects of coagulation factor V: the hemorrhagic side.

Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population

A functional variant in ERAP1 predisposes to multiple sclerosis

Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aalpha -chain gene are not associated with the decay of the mutant mRNAs

The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis.

No association of GBA mutations and multiple system atrophy.

Polymorphisms in the genes coding for iron binding and transporting proteins are associated with disability, severity, and early progression in multiple sclerosis

Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis.

Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms

Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis

The association of factor V Leiden with myocardial infarction is replicated in 1880 patients with premature disease

LRRK2 mutations in Parkinson's disease: confirmation of a gender effect in the Italian population

Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta -chain gene causing activation of cryptic splice sites

Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism.

Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families

A new exon in the 5' untranslated region of the connexin32 gene

Missense or splicing mutation? The case of a fibrinogen Bbeta-chain mutation causing severe hypofibrinogenemia

Analysis of the 16S rRNA gene sequence of the coryneform bacterium associated with hyperkeratotic dermatitis of athymic nude mice and development of a PCR-based detection assay

DNAJC12 and dopa-responsive nonprogressive parkinsonism

Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: Broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations

First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.

Coagulation factor V.

An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate

Crohn's disease loci are common targets of protozoa-driven selection

Autosomal recessive deficiencies of coagulation factors

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.