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Haematologica|November 2, 2016
New insights on hereditary erythrocyte membrane defectsImmacolata Andolfo, Roberta Russo, Antonella Gambale, et al.
Expert Review of Hematology|December 15, 2015
Diagnosis and management of congenital dyserythropoietic anemiasAntonella Gambale, Achille Iolascon, Immacolata Andolfo, et al.
American Journal of Hematology|October 4, 2017
Hereditary stomatocytosis: An underdiagnosed conditionImmacolata Andolfo, Roberta Russo, Antonella Gambale, et al.
American Journal of Hematology|July 22, 2014
Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scoresRoberta Russo, Antonella Gambale, Concetta Langella, et al.
Molecular Genetics & Genomic Medicine|December 19, 2020
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanismEdoardo Errichiello, Roberto Giorda, Antonella Gambale, et al.
American Journal of Medical Genetics. Part A|March 22, 2017
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblingsMariateresa Falco, Annamaria Franzè, Sandra Iossa, et al.
American Journal of Hematology|September 7, 2018
Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patientsImmacolata Andolfo, Roberta Russo, Barbara Eleni Rosato, et al.
Cells|July 12, 2024
Trisomy 21 with Maternally Inherited Balanced Translocation (15q;22q) in a Female Fetus: A Rare Case of Probable Interchromosomal EffectAlessandro De Falco, Antonella Gambale, Michele Pinelli, et al.
American Journal of Hematology|August 11, 2019
The BMP-SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE-A260S variantImmacolata Andolfo, Barbara Eleni Rosato, Roberta Marra, et al.
Clinical Case Reports|February 14, 2022
Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred-PK deficiency masquerading as congenital dyserythropoietic anemiaNaglaa Fawaz, Ismail Beshlawi, Alauldeen Alqasim, et al.
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