Achille Iolascon

Q: What Schools Are Affiliated With Achille Iolascon

Achille Iolascon is affiliated with the following schools: University of California, Berkeley, University of Oxford, University College London, Università degli studi di Foggia, University of Bari, Stanford University, University of Basel, University of Naples Federico II, University of Zurich

Achille Iolascon's AcademicInfluence.com Rankings

Achille Iolascon

Computer Science

#9293

World Rank

#9760

Historical Rank

Computational Linguistics

#2220

World Rank

#2242

Historical Rank

Machine Learning

#4031

World Rank

#4079

Historical Rank

Artificial Intelligence

#4369

World Rank

#4429

Historical Rank

computer-science Degrees

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Computer Science

Achille Iolascon's Degrees

Masters Computer Science Stanford University
Bachelors Computer Science University of California, Berkeley

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Achille Iolascon's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Subgroup-specific structural variation across 1,000 medulloblastoma genomes (2012) (760)
Mapping the human genetic architecture of COVID-19 (2021) (455)
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. (2000) (364)
MYH9-Related Disease: May-Hegglin Anomaly, Sebastian Syndrome, Fechtner Syndrome, and Epstein Syndrome Are not Distinct Entities but Represent a Variable Expression of a Single Illness (2003) (306)
The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload. (2007) (289)
Guidelines for the diagnosis and management of hereditary spherocytosis – 2011 update (2012) (283)
Integrative genomics identifies LMO1 as a neuroblastoma oncogene (2011) (280)
Tomographic flow cytometry by digital holography (2016) (274)
MicroRNA-199b-5p Impairs Cancer Stem Cells through Negative Regulation of HES1 in Medulloblastoma (2009) (265)
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II (2009) (249)
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. (2013) (249)
Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism (2015) (241)
Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma (2012) (232)
Iron refractory iron deficiency anemia (2013) (190)
A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. (2010) (187)
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population (2020) (177)
Position of nonmuscle myosin heavy chain IIA (NMMHC‐IIA) mutations predicts the natural history of MYH9‐related disease (2008) (174)
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. (2001) (173)
MiR-34a Targeting of Notch Ligand Delta-Like 1 Impairs CD15+/CD133+ Tumor-Propagating Cells and Supports Neural Differentiation in Medulloblastoma (2011) (170)
Suppressor of cytokine signaling 3 (SOCS3) expression and hepatitis C virus–related chronic hepatitis: Insulin resistance and response to antiviral therapy (2007) (163)
Phenotype Restricted Genome-Wide Association Study Using a Gene-Centric Approach Identifies Three Low-Risk Neuroblastoma Susceptibility Loci (2011) (159)
Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis. (1999) (154)
Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1 (2005) (153)
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. (2002) (143)
NCOA4 Deficiency Impairs Systemic Iron Homeostasis. (2016) (136)
Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis (2009) (134)
Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2). (2006) (133)
Inherited thrombocytopenias: from genes to therapy. (2002) (130)
Inherited thrombocytopenias: a proposed diagnostic algorithm from the Italian Gruppo di Studio delle Piastrine. (2003) (126)
Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia (2005) (126)
New insights on hereditary erythrocyte membrane defects (2016) (121)
MYCN oncogene amplification in neuroblastoma is associated with worse prognosis, except in stage 4s: the Italian experience with 295 children. (1997) (117)
ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders (2015) (117)
Congenital dyserythropoietic anemias: molecular insights and diagnostic approach. (2013) (110)
Recommendations regarding splenectomy in hereditary hemolytic anemias (2017) (108)
Multi‐gene panel testing improves diagnosis and management of patients with hereditary anemias (2018) (103)
Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility. (2013) (100)
Rapid detection of neonatal sepsis using polymerase chain reaction (1997) (97)
Red blood cell membrane defects. (2003) (96)
Rare variants in TP53 and susceptibility to neuroblastoma. (2014) (92)
Resveratrol accelerates erythroid maturation by activation of FoxO3 and ameliorates anemia in beta-thalassemic mice (2014) (90)
Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search. (1997) (87)
Elevated expression and polymorphisms of SOCS3 influence patient response to antiviral therapy in chronic hepatitis C (2007) (85)
The N-terminal 11 amino acids of human erythrocyte band 3 are critical for aldolase binding and protein phosphorylation: implications for band 3 function. (2005) (82)
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis) (2015) (81)
p27Kip1 accumulation is associated with retinoic-induced neuroblastoma differentiation: evidence of a decreased proteasome-dependent degradation (2000) (80)
The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anemia (type II) originate from the endoplasmic reticulum. (1996) (80)
Molecular pathology of Crigler-Najjar type I and II and Gilbert's syndromes. (1999) (80)
Common genetic variants in NEFL influence gene expression and neuroblastoma risk. (2014) (79)
Splenectomy prolongs in vivo survival of erythrocytes differently in spectrin/ankyrin- and band 3-deficient hereditary spherocytosis. (2002) (79)
Osteoporosis in β‐thalassaemia major patients: analysis of the genetic background (2000) (78)
Clinical management of iron deficiency anemia in adults: Systemic review on advances in diagnosis and treatment. (2017) (78)
Regulation of divalent metal transporter 1 (DMT1) non-IRE isoform by the microRNA Let-7d in erythroid cells (2010) (77)
Association of breast cancer and polymorphisms of interleukin-10 and tumor necrosis factor-alpha genes. (2003) (76)
Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus to chromosome 16 (16q23-qter). (1998) (75)
UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis. (1998) (75)
Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression (2016) (72)
Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach (2012) (72)
Analysis of cyclin‐dependent kinase inhibitor genes (CDKN2A, CDKN2B, and CDKN2C) in childhood rhabdomyosarcoma (1996) (71)
Homozygous mutation in the prokineticin-receptor2 gene (Val274Asp) presenting as reversible Kallmann syndrome and persistent oligozoospermia: case report. (2008) (69)
A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis (2009) (69)
Oxidative stress modulates heme synthesis and induces peroxiredoxin-2 as a novel cytoprotective response in β-thalassemic erythropoiesis (2011) (68)
Galectin-1 and Its Involvement in Hepatocellular Carcinoma Aggressiveness (2010) (68)
Homozygosis for (12) CA repeats in the first intron of the human IFN‐γ gene is significantly associated with the risk of aplastic anaemia in Caucasian population (2004) (67)
Hereditary spherocytosis: from clinical to molecular defects. (1998) (65)
Congenital dyserythropoietic anemia type II: molecular basis and clinical aspects. (1996) (65)
Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24. (2000) (64)
Galectin-1 is a major effector of TrkB-mediated neuroblastoma aggressiveness (2009) (64)
Diagnosis and management of congenital dyserythropoietic anemias (2016) (63)
Interleukin-10 - 1082 GG polymorphism influences the occurrence and the clinical characteristics of hepatitis C virus infection. (2006) (62)
The European Hematology Association Roadmap for European Hematology Research: a consensus document. (2016) (62)
The "stomatin" gene and protein in overhydrated hereditary stomatocytosis. (2003) (61)
Novel TMPRSS6 mutations associated with iron‐refractory iron deficiency anemia (IRIDA) (2010) (61)
Involvement of the cyclin‐dependent kinase‐4 inhibitor (CDKN2) gene in the pathogenesis of lymphoid blast crisis of chronic myelogenous leukaemia (1995) (60)
Spectrum of UGT1A1 mutations in Crigler‐Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype‐phenotype correlation (2005) (60)
(TA)8 allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome. (1999) (60)
Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: Definition of clinical and molecular spectrum and identification of new diagnostic scores (2014) (58)
5'-Deoxy-5'-methylthioadenosine phosphorylase and p16INK4 deficiency in multiple tumor cell lines. (1995) (58)
Natural history of congenital dyserythropoietic anemia type II. (2001) (58)
Recombinant erythropoietin therapy as an alternative to blood transfusions in infants with hereditary spherocytosis. (2000) (57)
Genotype/phenotype correlation in hereditary spherocytosis (2008) (57)
The micro-RNA 199b-5p regulatory circuit involves Hes1, CD15, and epigenetic modifications in medulloblastoma. (2012) (57)
Hereditary dehydrated and overhydrated stomatocytosis: recent advances. (1999) (56)
Erythrocyte membrane protein alterations underlying clinical heterogeneity in hereditary spherocytosis (1994) (56)
Transforming Growth Factor‐β1 Gene Polymorphism, Bone Turnover, and Bone Mass in Italian Postmenopausal Women (2000) (56)
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 (2010) (56)
Clinical and molecular evaluation of non‐dominant hereditary spherocytosis (2001) (55)
Missense mutations in the ABCB6 transporter cause dominant familialpseudohyperkalemia (2013) (54)
Exclusion of three candidate genes as determinants of congenital dyserythropoietic anemia type II (CDA-II). (1997) (54)
Natural history of recessive inheritance of DMT1 mutations. (2008) (53)
Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma (2017) (52)
Advances in understanding the pathogenesis of red cell membrane disorders (2019) (52)
Functional and Clinical Impact of Novel Tmprss6 Variants in Iron‐Refractory Iron‐Deficiency Anemia Patients and Genotype–Phenotype Studies (2014) (51)
An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p. (1999) (51)
Increased methyl esterification of membrane proteins in aged red-blood cells. Preferential esterification of ankyrin and band-4.1 cytoskeletal proteins. (1983) (50)
A novel R416C mutation in human DMT1 (SLC11A2) displays pleiotropic effects on function and causes microcytic anemia and hepatic iron overload. (2006) (50)
Membrane cation and anion transport activities in erythrocytes of hereditary spherocytosis: Effects of different membrane protein defects (1997) (50)
p53 Gene Mutations in Medulloblastoma: Immunohistochemistry Gel Shift Analysis, and Sequencing (1993) (50)
Dietary ω-3 fatty acids protect against vasculopathy in a transgenic mouse model of sickle cell disease (2015) (49)
Increased Levels of Endothelin-1 in Plasma of Sickle Cell Anemia Patients (1998) (49)
Characterization of Two Novel Missense Mutations in the AQP2 Gene Causing Nephrogenic Diabetes Insipidus (2006) (49)
Steatosis as a co-factor in chronic liver diseases. (2010) (48)
Hereditary xerocytosis revisited (2014) (47)
Expression of G1-phase cell cycle genes during hematopoietic lineage. (1997) (46)
Homozygous deletions of cyclin-dependent kinase inhibitor genes, p16(INK4A) and p18, in childhood T cell lineage acute lymphoblastic leukemias. (1996) (46)
Mutations in the gene encoding DMT1: clinical presentation and treatment. (2009) (45)
Retinoic acid induces p27Kip1 nuclear accumulation by modulating its phosphorylation. (2006) (45)
Decreased band 3 anion transport activity and band 3 clusterization in congenital dyserythropoietic anemia type II. (1998) (45)
Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach. (2002) (44)
Hereditary stomatocytosis: An underdiagnosed condition (2018) (44)
Label-Free Optical Marker for Red-Blood-Cell Phenotyping of Inherited Anemias. (2018) (44)
Familial Pseudohyperkalemia Maps to the Same Locus as Dehydrated Hereditary Stomatocytosis (Hereditary Xerocytosis) (1999) (43)
Phosphorylation of nm23-H1 by CKI induces its complex formation with h-prune and promotes cell motility (2008) (43)
Mutational screening of thrombopoietin receptor gene (c‐mpl) in patients with congenital thrombocytopenia and absent radii (TAR) (1998) (43)
Bone marrow transplantation in a case of severe, type II congenital dyserythropoietic anaemia (CDA II) (2001) (42)
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males (2021) (42)
Frequency of congenital dyserythropoietic anemias in Europe (2010) (42)
Resolution of sickle cell disease-associated inflammation and tissue damage with 17R-resolvin D1. (2019) (41)
Caspase 3 and 8 deficiency in human neuroblastoma. (2003) (41)
Genotype‐phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients (2018) (40)
Perspectives on liquid biopsy for label‐free detection of “circulating tumor cells” through intelligent lab‐on‐chips (2020) (40)
Proliferate and survive: cell division cycle and apoptosis in human neuroblastoma. (2002) (39)
Neonatal hyperbilirubinemia and Gilbert's syndrome (2002) (38)
THROMBIN GENERATION IN CHILDREN WITH ACUTE LYMPHOBLASTIC LEUKEMIA: Effect of Leukemia Immunophenotypic Subgroups (2000) (38)
Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 (2021) (38)
An 18 gene expression-based score classifier predicts the clinical outcome in stage 4 neuroblastoma (2016) (38)
Cytogenetic analysis of hepatoblastoma: hypothesis of cytogenetic evolution in such tumors and results of a multicentric study. (1998) (38)
HIF-1 transcription activity: HIF1A driven response in normoxia and in hypoxia (2019) (37)
Fine mapping of 2q35 high‐risk neuroblastoma locus reveals independent functional risk variants and suggests full‐length BARD1 as tumor‐suppressor (2018) (37)
Congenital erythropoietic porphyria linked to GATA1‐R216W mutation: challenges for diagnosis (2015) (37)
Mutational spectrum in congenital dyserythropoietic anemia type II: Identification of 19 novel variants in SEC23B gene (2010) (37)
Frequent de novo monoallelic expression of β‐spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency (1998) (37)
Osteoporosis in beta-thalassaemia major patients: analysis of the genetic background. (2000) (36)
Analysis of CDKN2A, CDKN2B, CDKN2C, and cyclin Ds gene status in hepatoblastoma (1998) (36)
Cytokine Gene Polymorphisms in Italian Preterm Infants: Association Between Interleukin-10 –1082 G/A Polymorphism and Respiratory Distress Syndrome (2007) (34)
Reduced expression of transforming growth factor-beta receptor type III in high stage neuroblastomas (2000) (34)
PTPϵ has a critical role in signaling transduction pathways and phosphoprotein network topology in red cells (2008) (34)
Study of the molecular defects in glucose phosphate isomerase-deficient patients affected by chronic hemolytic anemia. (1996) (33)
The congenital dyserythropoietic anaemias. (1999) (33)
Congenital Dyserythropoietic Anemias. (2020) (33)
Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis: three new ANK1 variants: ankyrins Bari, Napoli II and Anzio (1997) (32)
Familial pseudohyperkalemia maps to the same locus as dehydrated hereditary stomatocytosis (hereditary xerocytosis). (1999) (32)
Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II (2013) (32)
Thrombophilia in thalassemia major patients: analysis of genetic predisposing factors. (2001) (32)
Congenital dyserythropoietic anemias (2011) (32)
Coexistence of hereditary spherocytosis (HS) due to band 3 deficiency and β‐thalassaemia trait: partial correction of HS phenotype (1993) (31)
Peroxiredoxin-2: A Novel Regulator of Iron Homeostasis in Ineffective Erythropoiesis. (2018) (31)
Genetic Analysis of the Coronavirus SARS-CoV-2 Host Protease TMPRSS2 in Different Populations (2020) (31)
Spectrin cagliari. an Ala-->Gly substitution in helix 1 of beta spectrin repeat 17 that severely disrupts the structure and self-association of the erythrocyte spectrin heterodimer. (1993) (30)
Structural and Functional Analysis of Cyclin-Dependent Kinase Inhibitor Genes(CDKN2A, CDKN2B, and CDKN2C) in Neuroblastoma (1998) (30)
Gene Expression Analysis in HBV Transgenic Mouse Liver: A Model to Study Early Events Related to Hepatocarcinogenesis (2006) (30)
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research (2021) (30)
A second locus mapping to 2q35–36 for familial pseudohyperkalaemia (2004) (30)
Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy. (2014) (29)
Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia (2016) (29)
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 (2009) (29)
Plakoglobin is differentially expressed in alveolar and embryonal rhabdomyosarcoma and is regulated by DNA methylation and histone acetylation. (2006) (29)
Comparative proteomic expression profile in all-trans retinoic acid differentiated neuroblastoma cell line. (2007) (29)
Inhibition of hypoxia inducible factors combined with all-trans retinoic acid treatment enhances glial transdifferentiation of neuroblastoma cells (2015) (29)
Infant hypervitaminosis A causes severe anemia and thrombocytopenia: evidence of a retinol-dependent bone marrow cell growth inhibition. (2002) (29)
Novel band 3 variants (bands 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus (1997) (29)
Mn-loaded apoferritin: a highly sensitive MRI imaging probe for the detection and characterization of hepatocarcinoma lesions in a transgenic mouse model. (2012) (29)
Kernicterus Associated with Hereditary Spherocytosis and UGT1A1 Promoter Polymorphism (2006) (28)
Gilbert's syndrome accounts for the phenotypic variability of congenital dyserythropoietic anemia type II (CDA-II). (2000) (28)
Detection of erbB2 copy number variations in plasma of patients with esophageal carcinoma (2011) (28)
Gain‐of‐function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway (2019) (28)
The metallophosphodiesterase Mpped2 impairs tumorigenesis in neuroblastoma (2012) (28)
The Interplay Between Peroxiredoxin-2 and Nuclear Factor-Erythroid 2 Is Important in Limiting Oxidative Mediated Dysfunction in β-Thalassemic Erythropoiesis. (2015) (28)
Ankyrin Napoli: a de novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis (1996) (27)
Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population (2011) (27)
A first update on mapping the human genetic architecture of COVID-19 (2022) (27)
SOCS3 and IRS-1 gene expression differs between genotype 1 and genotype 2 hepatitis C virus-infected HepG2 cells (2009) (27)
Fyn kinase is a novel modulator of erythropoietin signaling and stress erythropoiesis (2018) (26)
Impact of Interleukin-6 –174 G>C Gene Promoter Polymorphism on Neuroblastoma (2013) (26)
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases (2017) (26)
Bitopertin, a selective oral GLYT1 inhibitor, improves anemia in a mouse model of beta-thalassemia. (2019) (26)
Challenges in prescribing drugs for children with cancer. (2008) (25)
Molecular and Genetic Basis of Inherited Nephrotic Syndrome (2011) (25)
Identification of a novel variant of epsilon‐gamma‐delta‐beta thalassemia highlights limitations of next generation sequencing (2015) (25)
Geographic distribution of CDA-II: did a founder effect operate in Southern Italy? (2000) (24)
Increased levels of ERFE-encoding FAM132B in patients with congenital dyserythropoietic anemia type II. (2016) (24)
Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5′-diphosphate-glucuronosyltransferase (UGT1A1) gene (2000) (24)
Genetic counseling during COVID‐19 pandemic: Tuscany experience (2020) (24)
Peroxiredoxin-2 plays a pivotal role as multimodal cytoprotector in the early phase of pulmonary hypertension. (2017) (24)
Gilbert's syndrome and jaundice in glucose-6-phosphate dehydrogenase deficient neonates. (1999) (23)
Age-dependent prognostic significance of N-myc amplification in neuroblastoma. The Italian experience. (1991) (23)
K-CL co-transport plays an important role in normal and β thalassemic erythropoiesis (2007) (23)
Ankyrin deficiency in dominant hereditary spherocytosis: report of three cases (1991) (23)
MICROCYTIC ANEMIA AND HEPATIC IRON OVERLOAD IN A CHILD WITH COMPOUND HETEROZYGOUS MUTATIONS IN DMT 1 (2005) (22)
Trasferrin receptor 2 gene regulation by microRNA 221 in SH-SY5Y cells treated with MPP+ as Parkinson's disease cellular model (2013) (22)
Two regions of deletion in 9p22- p24 in neuroblastoma are frequently observed in favorable tumors. (2002) (22)
Missense Mutations in the ABCB6 Transporter Cause Dominant Familial Pseudohyperkalemia (2012) (22)
Cytoskeletal behaviour in spectrin and in band 3 deficient spherocytic red cells: evidence for a differentiated splenic conditioning role (1996) (22)
Recommendations for diagnosis and treatment of methemoglobinemia (2021) (22)
Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II (2014) (21)
The role of molecular genetics in the pathogenesis and diagnosis of neonatal sepsis. (2004) (21)
HEREDITARY SPHEROCYTOSIS CHARACTERIZED BY INCREASED SPECTRIN/BAND 3 RATIO (1992) (21)
Red cells in post-genomic era: impact of personalized medicine in the treatment of anemias (2015) (21)
Spina bifida and folate-related genes: A study of gene-gene interactions (2002) (21)
The role of TMPRSS6 and HFE variants in iron deficiency anemia in celiac disease (2018) (21)
Maternal and Neonatal Lead Exposure in Southern Italy (1998) (21)
Congenital dyserythropoietic anemia type II: exclusion of seven candidate genes. (2003) (21)
Pharmacogenetics and paediatric drug development: issues and consequences to labelling and dosing recommendations (2007) (21)
Inactivation of cyclin-dependent kinase inhibitor genes and development of human acute leukemias. (1997) (21)
Interstitial and large chromosome 1p deletion occurs in localized and disseminated neuroblastomas and predicts an unfavourable outcome. (1998) (20)
Pediatric pharmacogenetic and pharmacogenomic studies: the current state and future perspectives (2011) (20)
Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias (2020) (20)
Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene. (2014) (20)
Bilirubin levels in the acute hemolytic crisis of G6PD deficiency are related to Gilbert's syndrome (1999) (20)
Increased membrane-protein methylation in hereditary spherocytosis. A marker of cytoskeletal disarray. (1995) (20)
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells (2019) (20)
Rapid detection of medium chain acyl-CoA dehydrogenase gene mutations by non-radioactive, single strand conformation polymorphism minigels. (1994) (20)
Induction of natural killer antibody-dependent cell cytotoxicity and of clinical activity of cetuximab plus avelumab in non-small cell lung cancer (2020) (19)
Expression of cell cycle regulatory genes in chronic myelogenous leukemia. (1998) (19)
Mild elliptocytosis associated with the alpha 34 Arg-->Trp mutation in spectrin Genova (alpha I/74). (1994) (19)
Characterisation of CAH alleles with non-radioactive DNA single strand conformation polymorphism analysis of the CYP21 gene. (1997) (19)
Congenital nephrotic syndrome of Finnish type: detection of new nephrin mutations and prenatal diagnosis in an Italian family (2005) (18)
Heavy transfusions and presence of an anti-protein 4.2 antibody in 4. 2(-) hereditary spherocytosis (949delG). (2000) (18)
Genetic heterogeneity of congenital dyserythropoietic anemia type II. (1998) (18)
The pyruvate kinase activator mitapivat reduces hemolysis and improves anemia in a β-thalassemia mouse model. (2021) (18)
Glucose 6‐phosphate dehydrogenase deficiency and red cell membrane defects: additive or synergistic interaction in producing chronic haemolytic anaemia (1994) (18)
Cell cycle regulation and human leukemias: the role of p16INK4 gene inactivation in the development of human acute lymphoblastic leukemia. (1995) (17)
Genetic Predisposition to Solid Pediatric Cancers (2020) (17)
21-hydroxylase deficiency in Italy: a distinct distribution pattern ofCYP21 mutations in a sample from southern Italy (1999) (17)
Severe poikilocytosis associated with a de novoα28 Arg→Cys mutation in spectrin (1993) (17)
Inherited hematological disorders due to defects in coat protein (COP)II complex (2013) (17)
Familial Dominant Thrombocytopenia: Clinical, Biologic, and Molecular Studies (1999) (16)
The BMP‐SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE‐A260S variant (2019) (16)
Flow-cytometric analysis of erythrocytes and reticulocytes in congenital dyserythropoietic anaemia type II (CDA II): value in differential diagnosis with hereditary spherocytosis. (2001) (16)
High frequency of homozygous deletions of CDK4I gene in childhood acute lymphoblastic leukaemia (1995) (16)
PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis (2017) (16)
Genetic analysis of the novel SARS-CoV-2 host receptor TMPRSS2 in different populations (2020) (16)
Pesticide toxicogenomics across scales: in vitro transcriptome predicts mechanisms and outcomes of exposure in vivo (2016) (16)
Integration of Pharmacogenetics and Pharmacogenomics in Drug Development: Implications for Regulatory and Medical Decision Making in Pediatric Diseases (2012) (16)
Homozygous Prothrombin Gene Mutationand Ischemic Cerebrovascular Disease (1999) (16)
Reversible erythrocyte skeleton destabilization is modulated by beta-spectrin phosphorylation in childhood leukemia (2001) (16)
Analysis of N-ras gene mutations in medulloblastomas by polymerase chain reaction and oligonucleotide probes in formalin-fixed, paraffin-embedded tissues. (1991) (16)
Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients (2021) (15)
Hereditary Thrombocytopenia due to Reduced Platelet Production (2000) (15)
Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency. (2018) (15)
Transcription factors involved in tumorigenesis are over-represented in mutated active DNA binding sites in neuroblastoma. (2019) (15)
Kinome expression profiling of human neuroblastoma tumors identifies potential drug targets for ultra high-risk patients (2017) (15)
Changes of the hepatic proteome in hepatitis B-infected mouse model at early stages of fibrosis. (2008) (15)
A Targeted Gene Panel for Circulating Tumor DNA Sequencing in Neuroblastoma (2020) (15)
GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II (2017) (15)
MDM2 SNP309 and p53 Arg72Pro in cutaneous melanoma: association between SNP309 GG genotype and tumor Breslow thickness (2010) (15)
How I Diagnose Non-thalassemic Microcytic Anemias. (2015) (14)
Genetic heterogeneity of hereditary stomatocytosis syndromes showing pseudohyperkalemia. (1999) (14)
Influence of ursodeoxycholate‐enriched diet on liver tumor growth in HBV transgenic mice (2003) (14)
Characterization of red cell membrane proteins as a function of red cell density: (2006) (14)
Apparently normal ankyrin content in unsplenectomized hereditary spherocytosis patients with the inactivation of one ankyrin (ANK1) allele. (1997) (14)
Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein (2019) (14)
Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene. (2019) (14)
Protease inhibitors‐based therapy induces acquired spherocytic‐like anaemia and ineffective erythropoiesis in chronic hepatitis C virus patients (2016) (14)
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Selecting ß-Thalassemia Patients for Gene Therapy: A Decision-Making Algorithm (2019) (6)
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A Novel εγδβ-Thalassemia Deletion Associated with Severe Anemia at Birth and a β-Thalassemia Intermedia Phenotype Later in Life in Three Generations of a Greek Family (2019) (3)
A Dyserythropoietic Anemia Associated with Homozygous Hb Plasencia [α125(H8)Leu→Arg (α2)] (HBA2:c.377T>G), A Variant with an Unstable α Chain (2010) (3)
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S273: EVIDENCE OF NONINFERIORITY OF MITAPIVAT VERSUS SPLENECTOMY IN MURINE HEREDITARY SPHEROCYTOSIS (2022) (3)
SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells (2022) (2)
RED CELLS , IRON , AND ERYTHROPOIESIS Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO 1 (2013) (2)
The EHA Research Roadmap: Anemias (2021) (2)
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism (2020) (2)
19p loss is significantly enriched in older age neuroblastoma patients and correlates with poor prognosis (2020) (2)
Towards an External Quality Assessment for Next Generation Sequencing in the Diagnosis of Rare Inherited Anaemias (2018) (2)
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The use of next‐generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper * (2022) (2)
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Estrogen-Induced Proliferation in Cultured Hepatocytes Involves Cyclin D1, P21 CIP1 (2006) (2)
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A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis (2023) (1)
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CLINICAL AND BIOLOGICAL FEATURES OF LONG-TERM SURVIVING NEUROBLASTOMA PATIENTS WITH MYCN AMPLIFICATION (1991) (0)
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THE PROBLEM OF RECESSIVE HEREDITARY SPHEROCYTOSIS (HS) (1999) (0)
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Summary of Joint European Hematology Association (EHA) and EuroBloodNet Recommendations on Diagnosis and Treatment of Methemoglobinemia (2021) (0)
S283: ERN-EUROBLOODNET EUROPEAN REGISTRY OF PATIENTS AFFECTED BY RED BLOOD CELL DISORDERS AND COVID-19 (2022) (0)
Erratum to: Association Study between Coronary Artery Disease and rs1333049 Polymorphism at 9p21.3 Locus in Italian Population (2017) (0)
S903 GAIN-OF-FUNCTION MUTATIONS IN PIEZO1 DIRECTLY IMPAIR HEPATIC IRON METABOLISM BY ALTERATIONS OF BMP/SMADS PATHWAY (2019) (0)
Colchicine Protects Against Cardiomyopathy in Humanized Mouse Model for Sickle Cell Disease (2022) (0)
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Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients (2021) (0)
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OUT OF BALANCE: ANEMIAS DUE TO DISORDERED IRON HOMEOSTASIS Inherited microcytic anemias (2020) (0)
P1537: HEREDITARY ANEMIA CAUSED BY MULTILOCUS INHERITANCE OF PIEZO1, SLC4A1 AND ABCB6 MUTATIONS: A DIAGNOSTIC AND THERAPEUTIC CHALLENGE. (2022) (0)
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Stain-free nucleus identification in holographic learning flow cyto-tomography (2021) (0)
Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver–Russell Syndrome Spectrum (2022) (0)
F-48 Genetic predictors of response in the treatment of chronic hepatitis C virus infection: interference between SOCS3 and IL28 (2012) (0)
Genetic predictors of response to treatment of chronic hepatitis C virus infection in patients from southern Italy (2014) (0)
NORMAL ANKYRIN CONTENT IN UNSPLENECTOMIZED HEREDITARY SPHEROCYTOSIS PATIENTS WITH THE INACTIVATION OF ONE ANKYRIN ( ANK 1 ) ALLELE (2005) (0)
Red Cell membrane disorders Hereditary spherocytosis La sphérocytose héréditaire (2010) (0)
S1629 ERFE-A260S ACCOUNTS FOR HEPATIC IRON METABOLISM IMPAIRMENT BY ACTING ON THE BMP-SMAD PATHWAY (2019) (0)
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Selecting β-thalassemia Patients for Gene Therapy: A Decision-making Algorithm (2021) (0)
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Molecular characterization of G6PD-deficient Mediterranean subjects negative for common polymorphic (2001) (0)
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Nrf2 Plays a Key Role in Iron-Overload Cardiomyopathy (2021) (0)
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Resveratrol Induces Erythroid Maturation by Activating FOXO3 and Improves in Vivo Erythropoiesis in Normal and Beta -Thalassemic Mice (2012) (0)
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility. (2023) (0)
Thrombin Generation in Children with Acute Lymphoblastic Leukemia (ALL): Effects of ALL Immunophenotypic Subgroups on Inherited Thrombotic Risk Factors (1999) (0)
Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred—PK deficiency masquerading as congenital dyserythropoietic anemia (2022) (0)
The approach and diagnosis of Coombs negative hemolytic anemias (2019) (0)
Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants (2022) (0)
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103 CLINICAL AND GENETIC HETEROGENEITY OF RECESSIVE FORM OF HEREDITARY SPHEROCYTOSIS (1991) (0)
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FGFR1 is a potential therapeutic target in neuroblastoma (2022) (0)
Incidence and outcome of hospital acquired malnutrition in children (2003) (0)
In Humanized Sickle Cell Mice, Imatinib Protects Against Sickle Cell–Related Injury (2023) (0)
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F-47 Clinical and genetic factors of response to antiviral treatment of chronic hepatitis C virus infection (2012) (0)
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P.185 The role for rare structural variants in the genetics of treatment resistant schizophrenia: preliminary data (2020) (0)
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Abstract 763: A systematic screening identify new drugs impairing medulloblastoma tumorigenesis (2010) (0)
Hereditary anemia caused by multilocus inheritance of PIEZO1, SLC4A1 and ABCB6 mutations: a diagnostic and therapeutic challenge (2022) (0)
Missense mutations in the ABVB6 transporter cause dominat familial pseudohyperkaliemia (2013) (0)
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Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity (2021) (0)
Cell division cycle manipulation and cancer treatment: a solid promise or just a dream? (2002) (0)
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The Novel Role That Nrf2 Plays in Erythropoiesis during Aging (2019) (0)
“Classic” and “new” genetic prothrombotic risk factors in children with portal vein thrombosis (2008) (0)
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Toward the specificity in QPI 3D tomographic cell flow cytometry holography: recent achievements and perspectives in biomedical sciences (2023) (0)
Anaemias diagnosis by label-free quantitative phase imaging (2019) (0)
A physician or group of physicians considers presentation and evolution of a real clinical case, reacting to clinical information and data (boldface type). This is followed by a discussion/commentary Hereditary xerocytosis revisited (2014) (0)
[Hepato-toxic effects of antibiotic therapy]. (1981) (0)
Diagnosis and molecular characterization of a novel α0‐thalassemia deletion (–Kozani) found in a Greek child with unexplained microcytic hypochromic anemia (2017) (0)
Identification and functional expression of two novel missense mutation in AQP2 gene causing NDI (2005) (0)
Fyn is Involved in Erythropoietin Signaling Pathway and Interfaces Oxidation to Regulate Erythropoiesis (2018) (0)
Subject Index Vol. 90, 2006 (2006) (0)
Detection of Familial Pseudohyperkalemia Among Italian Blood Donors By Genetic Screening for the R276W Mutation in ABCB6 (2015) (0)
MTHFR 677C-T and Neural Tube Defects: An Evaluation in a Population from Southern Italy (1999) (0)
Cover Picture: Perspectives on liquid biopsy for label‐free detection of “circulating tumor cells” through intelligent lab‐on‐chips (View 3/2020) (2020) (0)
441 The influence of interleukin- 10 promoter gene polymorphism on the occurrence of non hodgkin lymphoma (NHL) in subjects infected with hepatitis C virus (HCV) (2006) (0)
S278: EVALUATION OF THE MAIN REGULATORS OF SYSTEMIC IRON HOMEOSTASIS IN PYRUVATE KINASE DEFICIENCY (2022) (0)
COPII Complex Characterization During Erythroid Differentiation and Its Involvement in CDAII Disease. (2009) (0)
CFDP1 is a neuroblastoma susceptibility gene that regulates transcription factors of the noradrenergic cell identity (2022) (0)
[Sanfilippo's disease of type B. Study of the enzymatic deficiency in a family]. (1983) (0)
In Vitro Characterization of R14W Mutation in SEC23B, the CDAII Causative Gene (2011) (0)
The frameshift Leu220Phefs*2 variant in KRIT1 accounts for early acute bleeding in patients affected by cerebral cavernous malformation (2021) (0)
[Antibiotic therapy: cephalosporins]. (1979) (0)
Cytostatic drugs and enhanced HbF production in childhood (1986) (0)
Genotype-Phenotype Studies in 70 Irida Patients (2016) (0)
A new de novo mosaic mutation of PHEX gene: a case report of a boy with hypophosphatemic rickets. (2023) (0)
Tomographic flow cytometry as the key-enabling technology for label-free liquid biopsy (2021) (0)
P1181 RISK FACTORS AND OUTCOME OF HOSPITAL ACQUIRED MALNUTRITION IN CHILDREN (2004) (0)
[Problems of antibiotic therapy in pediatrics]. (1982) (0)
M170. GENETIC CHARACTERIZATION OF A COHORT OF PATIENTS AFFECTED BY SCHIZOPHRENIA. THE ROLE FOR RARE STRUCTURAL VARIANTS IN MODULATING TREATMENT RESISTANT ENDOPHENOTYPES: PRELIMINARY DATA (2020) (0)
Editorial: Genetics and Genomics of Red Blood Cells (2022) (0)
Erfe-Encoding FAM132B in Congenital Dyserythropoietic Anemia Type II (2015) (0)
Detection of oncogene activation in paraffin-embedded tissue using the polymerase chain reaction (PCR) (1990) (0)
[Fluorimetric determination of erythrocytic free protoporphyrins in evaluation of iron deficiency states]. (1979) (0)
Label-free liquid biopsy through the identification of tumor cells by machine learning-powered tomographic phase imaging flow cytometry (2023) (0)
Targeting ATP2B1 impairs PI3K/Akt/Fox-O3 signaling and reduces SARS-COV-2 replication in vivo. (2022) (0)
New Insights on Congenital Dyserythropoietic Anemia Type II (1999) (0)
New Insights on Congenital Dyserithropoietic Anemia Type II (1999) (0)
P.10.4 THE ROLE OF TMPRSS6 VARIANT RS855791 IN IRON-REFRACTORY IRON DEFICIENCY ANAEMIA (IRIDA) IN CELIAC DISEASE (2018) (0)
Author Correction: Failure of human rhombic lip differentiation underlies medulloblastoma formation (2022) (0)
Therapeutic targeting of Lyn kinase to treat chorea-acanthocytosis (2021) (0)
M169. HIPPOCAMPAL GLUTAMATE AND HIPPOCAMPUS SUBFIELD VOLUMES IN ANTIPSYCHOTIC-NAIVE FIRST EPISODE PSYCHOSIS SUBJECTS AND RELATIONSHIPS TO DURATION OF UNTREATED PSYCHOSIS (2020) (0)

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