Author details

Full Name

Erika Salvi

Affiliation

ORCID

Career Start Year

2005

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36979710	Muscle and Muscle-like Autoantigen Expression in Myasthenia Gravis Thymus: Possible Molecular Hint for Autosensitization.		2023
37808256	Archival skin biopsy specimens as a tool for miRNA-based diagnosis: Technical and post-analytical considerations.		2023
36778260	Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.	medRxiv	2023
37209533	Dissecting the genetic heterogeneity of gastric cancer.	EBioMedicine	2023
37079850	TRPA1 rare variants in chronic neuropathic and nociplastic pain patients.		2023
37175987	Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies.	Int J Mol Sci	2023
36730021	Integrative miRNA-mRNA profiling of human epidermis: unique signature of SCN9A painful neuropathy.		2023
37480624	Corrigendum to "Dissecting the genetic heterogeneity of gastric cancer".	EBioMedicine	2023
35252394	Dissecting the Polygenic Basis of Primary Hypertension: Identification of Key Pathway-Specific Components.	Front Cardiovasc Med	2022
35390065	Association of colorectal cancer with genetic and epigenetic variation in PEAR1-A population-based cohort study.	PLoS One	2022
36361641	The p.Asn521Thr Variant Is Associated with Earlier Disease Onset in Frontotemporal Lobar Degeneration.	International Journal of Molecular Sciences	2022
36035258	Identification of a cytokine profile in serum and cerebrospinal fluid of pediatric and adult spinal muscular atrophy patients and its modulation upon nusinersen treatment.	Frontiers in Cellular Neuroscience	2022
35697829	Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals.	Commun Biol	2022
35806193	Peripheral Ion Channel Gene Screening in Painful- and Painless-Diabetic Neuropathy.	Int J Mol Sci	2022
36057693	Identification of risk loci for primary aldosteronism in genome-wide association studies.	Nat Commun	2022
36430572	Peripheral Ion Channel Genes Screening in Painful Small Fiber Neuropathy.	Int J Mol Sci	2022
36570531	Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort.		2022
34799533	Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A.	Pain	2022
33651841	Correction: Evaluation of molecular inversion probe versus TruSeqÂ® custom methods for targeted next-generation sequencing.	PLoS One	2021
33589841	Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.	Nat Genet	2021
32912934	Genome-Wide Meta-Analysis Identifies Three Novel Susceptibility Loci and Reveals Ethnic Heterogeneity of Genetic Susceptibility for IgA Nephropathy.	Journal of the American Society of Nephrology : JASN	2020
32877464	Evaluation of molecular inversion probe versus TruSeqÂ® custom methods for targeted next-generation sequencing.	PLoS One	2020
31423876	Genome-Wide Meta-Analysis of Blood Pressure Response to Î²<sub>1</sub>-Blockers: Results From ICAPS (International Consortium of Antihypertensive Pharmacogenomics Studies).	J Am Heart Assoc	2019
31665231	Diagnostic criteria for small fibre neuropathy in clinical practice and research.	Brain	2019
31140616	A red orange and lemon by-products extract rich in anthocyanins inhibits the progression of diabetic nephropathy.	Journal of Cellular Physiology	2019
31152163	A catalog of genetic loci associated with kidney function from analyses of a million individuals.	Nat Genet	2019
30232134	Claudin-14 Gene Polymorphisms and Urine Calcium Excretion.	Clin J Am Soc Nephrol	2018
28340119	The risk of nephrolithiasis is causally related to inactive matrix Gla protein, a marker of vitamin K status: a Mendelian randomization study in a Flemish population.	Nephrol Dial Transplant	2018
29978519	A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia.	Journal of the Peripheral Nervous System	2018
27920155	<i>SOS2</i> and <i>ACP1</i> Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function.	J Am Soc Nephrol	2017
29020091	A novel network analysis approach reveals DNA damage, oxidative stress and calcium/cAMP homeostasis-associated biomarkers in frontotemporal dementia.	PLoS One	2017
28553957	Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.	Nat Genet	2017
28767105	Erratum: Genetic loci associated with heart rate variability and their effects on cardiac disease risk.	Nat Commun	2017
28542843	Next-generation sequencing of a family with a high penetrance of monoclonal gammopathies for the identification of candidate risk alleles.	Cancer	2017
28449647	PEAR1 is not a major susceptibility gene for cardiovascular disease in a Flemish population.	BMC Med Genet	2017
28534485	Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1.	Nat Commun	2017
28613276	Genetic loci associated with heart rate variability and their effects on cardiac disease risk.	Nat Commun	2017
28963451	CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.	Nat Commun	2017
27802415	Genome-Wide and Gene-Based Meta-Analyses Identify Novel Loci Influencing Blood Pressure Response to Hydrochlorothiazide.	Hypertension	2017
27782075	Association Analysis of Noncoding Variants in Neuroligins 3 and 4X Genes with Autism Spectrum Disorder in an Italian Cohort.	Int J Mol Sci	2016
27385538	A candidate gene study identifies a haplotype of CD2 as novel susceptibility factor for systemic sclerosis.	Clin Exp Rheumatol	2016
27338244	Interaction between polyphenols intake and PON1 gene variants on markers of cardiovascular disease: a nutrigenetic observational study.	J Transl Med	2016
26831199	Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.	Nat Commun	2016
27225129	Genome-wide association study identifies 74 loci associated with educational attainment.	Nature	2016
27607461	Xanthine oxidase gene variants and their association with blood pressure and incident hypertension: a population study.	J Hypertens	2016
27876822	A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape.	Nat Commun	2016
25102225	The -665 C>T polymorphism in the eNOS gene predicts cardiovascular mortality and morbidity in white Europeans.	J Hum Hypertens	2015
25880423	Identification of NF-ÎºB and PLCL2 as new susceptibility genes and highlights on a potential role of IRF8 through interferon signature modulation in systemic sclerosis.	Arthritis Res Ther	2015
25541647	PEAR1 is not a human hypertension-susceptibility gene.	Blood Press	2015
25493955	Genome-wide association study of kidney function decline in individuals of European descent.	Kidney Int	2015