Get started
Author

Roberta Trunzo

Observed names: R. Trunzo, TRUNZO, ROBERTA, Trunzo, Roberta
Institution: Centogene (Germany)
ORCID: 0000-0003-0254-9630
Observed ORCID: 0000-0003-0254-9630
OpenAlex ID: A5028461074
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
2023 · Ruizhi Deng, Eva Medico-Salsench, et al. · Acta Neuropathologica · 24
PDF
Biallelic ZNFX1 variants are associated with a spectrum of immuno‐hematological abnormalities
2021 · Salem Alawbathani, Ana Westenberger, et al. · Clinical Genetics · 23
PDF
Phenylalanine hydroxylase deficiency in south Italy: Genotype–phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness
2015 · Roberta Trunzo, Rosa Santacroce, et al. · Clinica Chimica Acta · 22
In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU
2016 · Roberta Trunzo, Rosa Santacroce, et al. · Gene · 18
Mutation analysis in hyperphenylalaninemia patients from South Italy
2013 · Roberta Trunzo, Rosa Santacroce, et al. · Clinical Biochemistry · 16
Novel AKAP9 mutation and long QT syndrome in a patient with torsades des pointes
2019 · Dario Bottigliero, Ilenia Monaco, et al. · Journal of Interventional Cardiac Electrophysiology · 10
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children
2024 · Nour Elkhateeb, Mahmoud Y. Issa, et al. · Clinical Genetics · 8
PDF
Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene
2014 · A. Leccese, V. Longo, et al. · Clinica Chimica Acta · 5
The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype
2015 · Rosa Santacroce, Roberta Trunzo, et al. · Systems Biology in Reproductive Medicine · 3
PDF
Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees
2013 · Roberta Trunzo, Rosa Santacroce, et al. · Clinical Biochemistry · 2
[TRPC6 mutations in children with steroid-resistant nephrotic syndrome].
2011 · Maddalena Gigante, Gianluca Caridi, et al. · PubMed · 2
Author response for "Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities"
2021 · Alawbathani, Salem, Westenberger, Ana, et al. · Publons reviews and discussion · 1
Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child
2021 · Eresha Jasinge, Mihika Fernando, et al. · Laboratory Medicine · 1
Molecular analysis and genotype-phenotype correlation in patients affected by hyperphenylalaninemias in southern italy
2016 · TRUNZO, ROBERTA · Università degli Studi di Foggia · 1
Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients
2015 · Rosa Santacroce, Angelica Leccese, et al. · Thrombosis Research · 1
Author response for "The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children"
2023 · Elkhateeb, Nour, Issa, Mahmoud Y, et al. · Publons reviews and discussion
Corrigendum to: Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child
2021 · Eresha Jasinge, Mihika Fernando, et al. · Laboratory Medicine
PDF
Works count: 18
Citation count: 137
H-index: 7
I10-index: 6
Year
Topic
Type