achille iolascon

Prof of Medical Genetics

Italy

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About

Prof. Achille Iolascon is a faculty member in the Department of Medical Genetics at his institution in Italy. His research focuses on childhood cancer predisposition, hereditary stomatocytosis, and novel genetic variants related to neurodevelopmental disorders. He has contributed significantly to understanding the genotype-phenotype correlation of various genetic conditions and improving pharmacogenetic testing methodologies.

Articles (20)

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2026

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2021

Collaborators (21)

Roberta Russo

Assistant Professor

Università degli Studi di Napoli Federico II

ITALY

achille iolascon

Research Interests

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Articles (20)

CTpredX: Enhancing missense variant pathogenicity prediction in childhood cancer predisposition genes

The evolving landscape of hereditary stomatocytosis

RAS signaling pathway is essential in regulating PIEZO1‐mediated hepatic iron overload in dehydrated hereditary stomatocytosis

Nrf2 Plays a Key Role in Erythropoiesis during Aging

Improving single nucleotide polymorphisms genotyping accuracy for dihydropyrimidine dehydrogenase testing in pharmacogenetics

Expanding the Phenotype of the CACNA1C-Associated Neurological Disorders in Children: Systematic Literature Review and Description of a Novel Mutation

P2 Receptor Antagonists Rescue Defective Heme Content in an In Vitro SLC25A38-Associated Congenital Sideroblastic Anemia Cell Model

Genotype–Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot Mutation

A Novel De Novo STAG1 Variant in Monozygotic Twins with Neurodevelopmental Disorder: New Insights in Clinical Heterogeneity

Trisomy 21 with Maternally Inherited Balanced Translocation (15q;22q) in a Female Fetus: A Rare Case of Probable Interchromosomal Effect

Coinheritance of PIEZO1 variants and multi‐locus red blood cell defects account for the symptomatic phenotype in beta‐thalassemia carriers

Proteome alterations in erythrocytes with PIEZO1 gain-of-function mutations

New Insights in 9q21.13 Microdeletion Syndrome: Genotype–Phenotype Correlation of 28 Patients

A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis

Differential diagnosis of hereditary anemias from a fraction of blood drop by digital holography and hierarchical machine learning

SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells

Editorial: Genetics and Genomics of Red Blood Cells

Different Mechanisms Cause Hypomethylation of Both <i>H19</i> and <i>KCNQ1OT1</i> Imprinted Differentially Methylated Regions in Two Cases of Silver–Russell Syndrome Spectrum

Nobel prize in physiology or medicine 2021, receptors for temperature and touch: Implications for hematology

Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.

Collaborators (21)

Roberta Russo

Adam Gordon

Marcin Moniuszko

Andrea Riccio

Barbara Shih

Kathryn Puxty

Davide Melisi

Regina Podlasin

Massimiliano PERDUCA

Lorenzo Cipriano

Anna Zeller

James Scriven

Immacolata Andolfo

Hugo Zeberg

Massimo Girardis

Giuseppe Fiermonte

Flavia CERRATO

Mario Capasso

Luca Dalle Carbonare

Agnieszka Bielska

Ingeborg Welters

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