Emanuela Maserati

University of Insubria — Italy

Medicine · Health Sciences

27h-index2.0kcitations132works0.02yr avg
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Research Topics

Acute Myeloid Leukemia Research(41), Blood disorders and treatments(38), Genomic variations and chromosomal abnormalities(21), Chronic Myeloid Leukemia Treatments(18), Immunodeficiency and Autoimmune Disorders(17)

Publications132 total

Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype
Molecular Cytogenetics·2020· 3 citedOpen Access
Novel evidence of karyotype instability in Shwachman Diamond Syndrome
IrInSubria (University of Insubria)·2019
Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0–8 years old
BMJ Open·2019· 27 citedOpen Access
Shwachman‐Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability
British Journal of Haematology·2018· 30 citedOpen Access
Whole exome sequencing discloses heterozygous variants in the <i><scp>DNAJC</scp>21</i> and <i><scp>EFL</scp>1</i> genes but not in <i><scp>SRP</scp>54</i> in 6 out of 16 patients with Shwachman‐Diamond Syndrome carrying biallelic <i><scp>SBDS</scp></i> mutations
British Journal of Haematology·2018· 13 cited
gDNA qPCR is statistically more reliable than mRNA analysis in detecting leukemic cells to monitor CML
Cell Death and Disease·2018· 7 citedOpen Access
Bone marrow failure may be caused by chromosome anomalies exerting effects on RUNX1T1 gene
Molecular Cytogenetics·2018· 4 citedOpen Access
DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation
PLoS ONE·2017· 33 citedOpen Access
DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation
2017· 4 citedOpen Access
Novel recurrent chromosome anomalies in Shwachman–Diamond syndrome
Pediatric Blood & Cancer·2017· 18 cited
Expression studies in the bone marrow of patients with Shwachman Diamond Syndrome (SDS) and deletion of the long arm of chromosome 20 encompassing th3 EIF6 gene: relation with benign prognosis.
IrInSubria (University of Insubria)·2017
Novel recurrent chromosome anomalies in Shwachman Diamond syndrome
IrInSubria (University of Insubria)·2017· 1 citedOpen Access
Parental origin of the deletion del(20q) in Shwachman‐Diamond patients and loss of the paternally derived allele of the imprinted <i>L3MBTL1</i> gene
Genes Chromosomes and Cancer·2016· 12 cited
EXPRESSION STUDIES IN BONE MARROW OF PATIENTS WITH SHWACHMAN-DIAMOND SYNDROME CARRYING A CHROMOSOME 20 LONG ARMS INTERSTITIAL DELETION
IrInSubria (University of Insubria)·2016
UNCOMMON ACQUIRED CHROMOSOME ANOMALIES IN SHWACHMAN-DIAMOND SYNDROME
IrInSubria (University of Insubria)·2016
High variability of genomic instability and gene expression profiling in different HeLa clones
Scientific Reports·2015· 107 citedOpen Access
Comparative genomic hybridization on microarray (a‐<scp>CGH</scp>) in olfactory neuroblastoma: Analysis of ten cases and review of the literature
Genes Chromosomes and Cancer·2015· 22 cited
Comprehensive characterization of mesenchymal stromal cells from patients with Fanconi anaemia
British Journal of Haematology·2015· 29 citedOpen Access
Cytogenetic Monitoring in Shwachman-Diamond Syndrome
Journal of Pediatric Hematology/Oncology·2015· 20 cited
Chromosome anomalies as cause of congenital bone marrow failure syndromes
IrInSubria (University of Insubria)·2015
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Frequent Co-authors

Francesco Pasquali(33), Roberto Valli(18), Cesare Danesino(17), Antonella Minelli(16), Francesco Lo Curto(15), Franco Locatelli(14), Barbara Pressato(9), Marco Zecca(8), Giuseppe Montalbano(6), Marco Cipolli(6), Cristina Marletta(6), Laura Seghezzi(6), Annalisa Frattini(5), Laura Sainati(5), Claudio Panarello(5), Carla Olivieri(5), Elena Nicolis(4), Cristina Morerio(4), Maria Ester Bernardo(4), Simone Cesaro(4)