Multi‐gene panel testing improves diagnosis and management of patients with hereditary anemias

Roberta Russo, Immacolata Andolfo, Francesco Manna, +11

American Journal of Hematology

Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19

Immacolata Andolfo, Roberta Russo, Vito Alessandro Lasorsa, +18

iScience

Genotype‐phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients

Immacolata Andolfo, Roberta Russo, Barbara Eleni Rosato, +4

American Journal of Hematology

Gain‐of‐function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway

Immacolata Andolfo, Barbara Eleni Rosato, Francesco Manna, +6

American Journal of Hematology

Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients

Immacolata Andolfo, Stefania Martone, Barbara Eleni Rosato, +12

Genes

PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells

Immacolata Andolfo, Gianluca De Rosa, Edoardo Errichiello, +10

Frontiers in Physiology

Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein

Roberta Russo, Roberta Marra, Immacolata Andolfo, +8

Frontiers in Physiology

The BMP‐SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE‐A260S variant

Immacolata Andolfo, Barbara Eleni Rosato, Roberta Marra, +5

American Journal of Hematology

Regulatory Noncoding and Predicted Pathogenic Coding Variants of CCR5 Predispose to Severe COVID-19

Sueva Cantalupo, Vito Alessandro Lasorsa, Roberta Russo, +18

International Journal of Molecular Sciences

RAP-011 Rescues the Disease Phenotype in a Cellular Model of Congenital Dyserythropoietic Anemia Type II by Inhibiting the SMAD2-3 Pathway

Gianluca De Rosa, Immacolata Andolfo, Roberta Marra, +4

International Journal of Molecular Sciences