All Stories

  1. A Rare Combination of High‐Affinity Hemoglobin, Non‐Transfusion‐Dependent Thalassemia (Αlpha‐Triplication and Codon 39 Mutation), and Hereditary Stomatocytosis

    Article • American Journal of Hematology, February 2026, Wiley

    Roberta Russo

  2. Targeted Therapy for a Rare PDGFRB-Rearranged Myeloproliferative Neoplasm: A Case Report

    Article • International Journal of Molecular Sciences, January 2026, MDPI AG

    Roberta Russo

  3. Additive effect of multiple genetic variants in SEC23B and PIEZO1 on iron metabolism dyshomeostasis in hereditary anemias

    Article • HemaSphere, January 2026, Wiley

    Roberta Russo

  4. Targeted Therapy for a Rare PDGFRB-Rearranged Myeloproliferative Neoplasm: A Case Report

    Article • November 2025, MDPI AG

    Roberta Russo

  5. The evolving landscape of hereditary stomatocytosis

    Article • Blood, June 2025, American Society of Hematology

    Roberta Russo

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

    Article • International Journal of Molecular Sciences, December 2024, MDPI AG

    Roberta Russo

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

    Article • American Journal of Hematology, November 2024, Wiley

    Roberta Russo

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

    Article • International Journal of Molecular Sciences, October 2024, MDPI AG

    Roberta Russo

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

    Article • Genes, September 2024, MDPI AG

    Roberta Russo

  10. Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia

    Article • HemaSphere, July 2024, Wiley

    Roberta Russo

  11. Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias

    Article • International Journal of Laboratory Hematology, May 2024, Wiley

    Roberta Russo

  12. First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review

    Article • Genes, January 2024, MDPI AG

    Roberta Russo

  13. Mitapivat reprograms the RBC metabolome and improves anemia in a mouse model of hereditary spherocytosis

    Article • JCI Insight, October 2023, American Society for Clinical Investigation

    Roberta Russo

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

    Article • American Journal of Hematology, March 2023, Wiley

    Roberta Russo, Valeria Maria Pinto

  15. PIEZO1 mutations impact on early clinical manifestations of myelodysplastic syndromes

    Article • American Journal of Hematology, February 2023, Wiley

    Roberta Russo

  16. The use of next‐generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper*

    Article • British Journal of Haematology, June 2022, Wiley

    Roberta Russo

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

    Article • Biosensors and Bioelectronics, April 2022, Elsevier

    Roberta Russo

  18. Novel Insights and Future Perspective in Iron Metabolism and Anemia

    Article • Metabolites, February 2022, MDPI AG

    Roberta Russo

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

    Article • International Journal of Molecular Sciences, January 2022, MDPI AG

    Roberta Russo

  20. Editorial: Genetics and Genomics of Red Blood Cells

    Article • Frontiers in Physiology, January 2022, Frontiers

    Roberta Russo

  21. Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients

    Article • Genes & Immunity, December 2021, Springer Science + Business Media

    Roberta Russo, MD Massimo Girardis

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

    Article • Human Genetics, December 2021, Springer Science + Business Media

    Roberta Russo, MD Massimo Girardis, Hugh Montgomery

  23. The frameshift Leu220Phefs*2 variant in KRIT1 accounts for early acute bleeding in patients affected by cerebral cavernous malformation

    Article • Interdisciplinary Neurosurgery, December 2021, Elsevier

    Roberta Russo

  24. Recommendations for diagnosis and treatment of methemoglobinemia

    Article • American Journal of Hematology, September 2021, Wiley

    Roberta Russo

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

    Article • September 2021, Cold Spring Harbor Laboratory Press

    Roberta Russo, MD Massimo Girardis

  26. The Serum Metabolome of Moderate and Severe COVID-19 Patients Reflects Possible Liver Alterations Involving Carbon and Nitrogen Metabolism

    Article • International Journal of Molecular Sciences, September 2021, MDPI AG

    Roberta Russo

  27. Mapping the human genetic architecture of COVID-19

    Article • Nature, July 2021, Springer Science + Business Media

    Michael Olanipekun, Professor Ahilanandan Dushianthan, Roberta Russo, MD Massimo Girardis, Hugh Montgomery, Dr Hong Bin Kim, Lise Tuset Gustad, JUNICHI SASAKI

  28. The EHA Research Roadmap: Anemias

    Article • HemaSphere, June 2021, Wolters Kluwer Health

    Roberta Russo

  29. C9orf72 Intermediate Repeats Confer Genetic Risk for Severe COVID-19 Pneumonia Independently of Age

    Article • International Journal of Molecular Sciences, June 2021, MDPI AG

    Roberta Russo, MD Massimo Girardis

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

    Article • Genes, June 2021, MDPI AG

    Roberta Russo, Valeria Maria Pinto

  31. The TNFRSF13C H159Y Variant Is Associated with Severe COVID-19: A Retrospective Study of 500 Patients from Southern Italy

    Article • Genes, June 2021, MDPI AG

    Roberta Russo

  32. SELP Asp603Asn and severe thrombosis in COVID-19 males: implication for anti P-selectin monoclonal antibodies treatment

    Article • May 2021, Cold Spring Harbor Laboratory Press

    Roberta Russo, MD Massimo Girardis

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

    Article • International Journal of Molecular Sciences, May 2021, MDPI AG

    Roberta Russo

  34. Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women

    Article • Genes, April 2021, MDPI AG

    Roberta Russo

  35. Recommendations for pregnancy in Fanconi anemia

    Article • Expert Opinion on Biological Therapy, April 2021, Taylor & Francis

    Roberta Russo

  36. The pyruvate kinase activator mitapivat reduces hemolysis and improves anemia in a β-thalassemia mouse model

    Article • Journal of Clinical Investigation, April 2021, American Society for Clinical Investigation

    Roberta Russo

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

    Article • iScience, April 2021, Elsevier

    Roberta Russo

  38. The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males

    Article • March 2021, Cold Spring Harbor Laboratory Press

    Roberta Russo, MD Massimo Girardis

  39. Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study

    Article • eLife, March 2021, eLife

    Roberta Russo, MD Massimo Girardis

  40. Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

    Article • EBioMedicine, March 2021, Elsevier

    Roberta Russo, MD Massimo Girardis

  41. Dysregulation of lipid metabolism and pathological inflammation in patients with COVID-19

    Article • Scientific Reports, February 2021, Springer Science + Business Media

    Roberta Russo

  42. Post-Mendelian genetic model in COVID-19

    Article • January 2021, Cold Spring Harbor Laboratory Press

    Roberta Russo, MD Massimo Girardis

  43. Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research

    Article • European Journal of Human Genetics, January 2021, Springer Science + Business Media

    Roberta Russo, MD Massimo Girardis

  44. Common Variants at 21q22.3 Locus Influence <i>MX1</i> Gene Expression and Susceptibility to Severe COVID-19

    Article • SSRN Electronic Journal, January 2021, Elsevier

    Roberta Russo

  45. Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias

    Article • Frontiers in Physiology, December 2020, Frontiers

    Roberta Russo

  46. Common variants at 21q22.3 locus influenceMX1gene expression and susceptibility to severe COVID-19

    Article • December 2020, Cold Spring Harbor Laboratory Press

    Roberta Russo

  47. Genetic mechanisms of critical illness in Covid-19

    Article • Nature, December 2020, Springer Science + Business Media

    Hugh Montgomery, Roberta Russo, MD Massimo Girardis

  48. Inherited microcytic anemias

    Article • Hematology, December 2020, American Society of Hematology

    Roberta Russo

  49. Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males

    Article • November 2020, Cold Spring Harbor Laboratory Press

    Roberta Russo, MD Massimo Girardis

  50. Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in males

    Article • November 2020, Cold Spring Harbor Laboratory Press

    Roberta Russo, MD Massimo Girardis

  51. Congenital dyserythropoietic anemias

    Article • Blood, September 2020, American Society of Hematology

    Roberta Russo

  52. Uridine treatment normalizes the congenital dyserythropoietic anemia type II ‐like hematological phenotype in a patient with homozygous mutation in the CAD gene

    Article • American Journal of Hematology, August 2020, Wiley

    Roberta Russo

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

    Article • Frontiers in Physiology, August 2020, Frontiers

    Roberta Russo

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

    Article • International Journal of Molecular Sciences, August 2020, MDPI AG

    Roberta Russo

  55. Genetic Analysis of the Coronavirus SARS-CoV-2 Host Protease TMPRSS2 in Different Populations

    Article • Frontiers in Genetics, August 2020, Frontiers

    Roberta Russo

  56. Recommendations for Pregnancy in Rare Inherited Anemias

    Article • HemaSphere, August 2020, Wolters Kluwer Health

    Roberta Russo

  57. Employing a Systematic Approach to Biobanking and Analyzing Clinical and Genetic Data for Advancing COVID-19 Research

    Article • July 2020, Cold Spring Harbor Laboratory Press

    Roberta Russo, MD Massimo Girardis

  58. Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus

    Article • Haematologica, July 2020, Ferrata Storti Foundation (Haematologica)

    Roberta Russo

  59. A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature

    Article • Italian Journal of Pediatrics, July 2020, Springer Science + Business Media

    Roberta Russo

  60. ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

    Article • European Journal of Human Genetics, July 2020, Springer Science + Business Media

    Roberta Russo, MD Massimo Girardis

  61. Bimodal strategy for excellent audiological rehabilitation in a subject with a novel nonsense mutation of the SLC26A4 gene: A case report

    Article • International Journal of Pediatric Otorhinolaryngology, July 2020, Elsevier

    Roberta Russo

  62. Genetic analysis of the novel SARS-CoV-2 host receptor TMPRSS2 in different populations

    Article • April 2020, Cold Spring Harbor Laboratory Press

    Roberta Russo

  63. Shorter Androgen Receptor PolyQ Alleles Protect Against Life-Threatening COVID-19 Disease in Males

    Article • SSRN Electronic Journal, January 2020, Elsevier

    Roberta Russo, MD Massimo Girardis

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

    Article • American Journal of Hematology, December 2019, Wiley

    Roberta Russo

  65. Hematopoietic Stem Cell Transplantation in Congenital Dyserythropetic Anemia Type II: A Case Report and Review of the Literature

    Article • Journal of Pediatric Hematology/Oncology, October 2019, Wolters Kluwer Health

    Roberta Russo

  66. CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia

    Article • Frontiers in Physiology, September 2019, Frontiers

    Roberta Russo

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

    Article • American Journal of Hematology, August 2019, Wiley

    Roberta Russo

  68. Advances in understanding the pathogenesis of red cell membrane disorders

    Article • British Journal of Haematology, July 2019, Wiley

    Roberta Russo

  69. Diagnostic decision support tool for anemias based on label-free holographic imaging

    Article • July 2019, SPIE

    Roberta Russo

  70. Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition

    Article • Clinical Genetics, July 2019, Wiley

    Roberta Russo

  71. Hereditary spherocytosis and allied disorders

    Article • HemaSphere, June 2019, Wolters Kluwer Health

    Roberta Russo

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

    Article • Frontiers in Physiology, May 2019, Frontiers

    Roberta Russo

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

    Article • Frontiers in Physiology, March 2019, Frontiers

    Roberta Russo

  74. Anaemias diagnosis by label-free quantitative phase imaging

    Article • March 2019, SPIE

    Roberta Russo

  75. Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients

    Article • American Journal of Hematology, October 2018, Wiley

    Roberta Russo

  76. Label-Free Optical Marker for Red-Blood-Cell Phenotyping of Inherited Anemias

    Article • Analytical Chemistry, May 2018, American Chemical Society (ACS)

    Roberta Russo

  77. Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias

    Article • American Journal of Hematology, February 2018, Wiley

    Dr Gian Luca Forni, Roberta Russo, Valeria Maria Pinto

  78. PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis

    Article • Haematologica, November 2017, Ferrata Storti Foundation (Haematologica)

    Roberta Russo

  79. Hereditary stomatocytosis: An underdiagnosed condition

    Article • American Journal of Hematology, October 2017, Wiley

    Roberta Russo

  80. Kinome expression profiling of human neuroblastoma tumors identifies potential drug targets for ultra high-risk patients

    Article • Carcinogenesis, August 2017, Oxford University Press (OUP)

    Roberta Russo

  81. Targeted next generation sequencing identifies a novel β-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis

    Article • American Journal of Hematology, July 2017, Wiley

    Dr Shoaib Al Zadjali, Roberta Russo

  82. GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II

    Article • Haematologica, May 2017, Ferrata Storti Foundation (Haematologica)

    Roberta Russo

  83. Recommendations regarding splenectomy in hereditary hemolytic anemias

    Article • Haematologica, May 2017, Ferrata Storti Foundation (Haematologica)

    Roberta Russo

  84. New insights on hereditary erythrocyte membrane defects

    Article • Haematologica, October 2016, Ferrata Storti Foundation (Haematologica)

    Roberta Russo

  85. Increased levels of ERFE-encoding FAM132B in patients with congenital dyserythropoietic anemia type II

    Article • Blood, October 2016, American Society of Hematology

    Roberta Russo

  86. Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia

    Article • Haematologica, May 2016, Ferrata Storti Foundation (Haematologica)

    Roberta Russo

  87. Next generation research and therapy in red blood cell diseases

    Article • Haematologica, April 2016, Ferrata Storti Foundation (Haematologica)

    Roberta Russo

  88. The European Hematology Association Roadmap for European Hematology Research: a consensus document

    Article • Haematologica, January 2016, Ferrata Storti Foundation (Haematologica)

    Roberta Russo

  89. Diagnosis and management of congenital dyserythropoietic anemias

    Article • Expert Review of Hematology, January 2016, Taylor & Francis

    Roberta Russo

  90. Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis)

    Article • American Journal of Hematology, September 2015, Wiley

    Roberta Russo

  91. Protease inhibitors-based therapy induces acquired spherocytic-like anaemia and ineffective erythropoiesis in chronic hepatitis C virus patients

    Article • Liver International, July 2015, Wiley

    Roberta Russo

  92. Red cells in post-genomic era: impact of personalized medicine in the treatment of anemias

    Article • Haematologica, December 2014, Ferrata Storti Foundation (Haematologica)

    Roberta Russo

  93. Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis

    Article • European Journal Of Haematology, October 2014, Wiley

    Roberta Russo

  94. Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: Definition of clinical and molecular spectrum and identification of new diagnostic scores

    Article • American Journal of Hematology, July 2014, Wiley

    Roberta Russo

  95. Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II

    Article • Pediatric Transplantation, April 2014, Wiley

    Roberta Russo

  96. Genetic predictors of response to treatment of chronic hepatitis C virus infection in patients from southern Italy

    Article • Italian Journal of Medicine, February 2014, PAGEPress Publications

    Roberta Russo

  97. Corrigendum

    Article • Carcinogenesis, February 2014, Oxford University Press (OUP)

    Roberta Russo

  98. Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II

    Article • Blood Cells Molecules and Diseases, June 2013, Elsevier

    Roberta Russo

  99. Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1

    Article • Blood, May 2013, American Society of Hematology

    Roberta Russo

  100. Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility

    Article • Carcinogenesis, December 2012, Oxford University Press (OUP)

    Roberta Russo

  101. Missense mutations in the ABCB6 transporter cause dominant familialpseudohyperkalemia

    Article • American Journal of Hematology, November 2012, Wiley

    Roberta Russo

  102. Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach

    Article • Haematologica, October 2012, Ferrata Storti Foundation (Haematologica)

    Roberta Russo

  103. Inherited hematological disorders due to defects in coat protein (COP)II complex

    Article • American Journal of Hematology, July 2012, Wiley

    Roberta Russo

  104. Integration of Pharmacogenetics and Pharmacogenomics in Drug Development: Implications for Regulatory and Medical Decision Making in Pediatric Diseases

    Article • The Journal of Clinical Pharmacology, May 2012, Wiley

    Oscar Della Pasqua, Roberta Russo

  105. A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency

    Article • Journal of Nephrology, January 2012, SAGE Publications

    Roberta Russo

  106. Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population

    Article • American Journal of Hematology, August 2011, Wiley

    Roberta Russo

  107. Congenital dyserythropoietic anemias

    Article • Current Opinion in Hematology, May 2011, Wolters Kluwer Health

    Roberta Russo

  108. A Dyserythropoietic Anemia Associated with Homozygous Hb Plasencia [α125(H8)Leu→Arg (α2)] (HBA2:c.377T>G), A Variant with an Unstable α Chain

    Article • Hemoglobin, November 2010, Taylor & Francis

    Roberta Russo

  109. Pediatric pharmacogenetic and pharmacogenomic studies: the current state and future perspectives

    Article • European Journal of Clinical Pharmacology, November 2010, Springer Science + Business Media

    Roberta Russo

  110. Mutational spectrum in congenital dyserythropoietic anemia type II: Identification of 19 novel variants in SEC23B gene

    Article • American Journal of Hematology, October 2010, Wiley

    Dr Gian Luca Forni, Roberta Russo

  111. MDM2 SNP309 and p53 Arg72Pro in cutaneous melanoma: association between SNP309 GG genotype and tumor Breslow thickness

    Article • Journal of Human Genetics, June 2010, Springer Science + Business Media

    Roberta Russo

  112. Regulation of divalent metal transporter 1 (DMT1) non-IRE isoform by the microRNA Let-7d in erythroid cells

    Article • Haematologica, April 2010, Ferrata Storti Foundation (Haematologica)

    Roberta Russo

  113. Galectin-1 and Its Involvement in Hepatocellular Carcinoma Aggressiveness

    Article • Extremophiles, December 2009, Springer Science + Business Media

    Roberta Russo

  114. Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship

    Article • Haematologica, December 2009, Ferrata Storti Foundation (Haematologica)

    Roberta Russo

  115. Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II

    Article • Nature Genetics, June 2009, Springer Science + Business Media

    Roberta Russo

  116. A predicted functional single-nucleotide polymorphism of bone morphogenetic protein-4 gene affects mRNA expression and shows a significant association with cutaneous melanoma in Southern Italian population

    Article • Journal of Cancer Research and Clinical Oncology, June 2009, Springer Science + Business Media

    Roberta Russo

  117. SOCS3 and IRS-1 gene expression differs between genotype 1 and genotype 2 hepatitis C virus-infected HepG2 cells

    Article • Clinical Chemistry and Laboratory Medicine (CCLM), January 2009, De Gruyter

    Roberta Russo

  118. Elevated expression and polymorphisms of SOCS3 influence patient response to antiviral therapy in chronic hepatitis C

    Article • Gut, December 2007, BMJ

    Roberta Russo

  119. Comparative Proteomic Expression Profile in All-trans Retinoic Acid Differentiated Neuroblastoma Cell Line

    Article • Journal of Proteome Research, June 2007, American Chemical Society (ACS)

    Roberta Russo

  120. Suppressor of cytokine signaling 3 (SOCS3) expression and hepatitis C virus–related chronic hepatitis: Insulin resistance and response to antiviral therapy

    Article • Hepatology, January 2007, Wolters Kluwer Health

    Roberta Russo