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F. Novara · SciRah

Researcher profile · Semantic Scholar

F. Novara

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F. Novara — researcher profile on SciRah

h-index: 34
Works: 104
Citations: 5,125

Most-cited papers

Human bone marrow derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not exhibit telomere maintenance mechanisms.
M. Bernardo, N. Zaffaroni, F. Novara, A. Cometa +8 more
2007Cancer Research710 citations
Semantic Scholar
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
A. Sharp, H. Mefford, Kelly E. Li, C. Baker +30 more
2008Nature Genetics575 citations Open access
Semantic Scholar
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients
M. De Gregori, R. Ciccone, P. Magini, T. Pramparo +39 more
2007Journal of Medical Genetics285 citations Open access
Semantic Scholar
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.
D. Ghezzi, I. Sevrioukova, F. Invernizzi, C. Lamperti +6 more
2010American Journal of Human Genetics216 citations Open access
Semantic Scholar
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome
M. Bonaglia, R. Giorda, S. Beri, Cristina De Agostini +51 more
2011PLoS Genetics188 citations Open access
Semantic Scholar
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
A. C. Lionel, K. Tammimies, A. Vaags, J. Rosenfeld +80 more
2014Human Molecular Genetics151 citations Open access
Semantic Scholar
Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm: focus on biallelic locus 9p21.3 deletion.
M. Lucioni, F. Novara, G. Fiandrino, R. Riboni +13 more
2011Blood145 citations Open access
Semantic Scholar
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion
Carlos Cardoso, A. Boys, Ellena Parrini, C. Mignon‐Ravix +14 more
2009Neurology129 citations
Semantic Scholar
Generation of mesenchymal stromal cells in the presence of platelet lysate: a phenotypic and functional comparison of umbilical cord blood- and bone marrow-derived progenitors
M. Avanzini, M. Bernardo, A. Cometa, C. Perotti +10 more
2009Haematologica123 citations Open access
Semantic Scholar
Spleen endothelial cells from patients with myelofibrosis harbor the JAK2V617F mutation.
V. Rosti, L. Villani, R. Riboni, Valentina Poletto +19 more
2013Blood116 citations Open access
Semantic Scholar
Refining the phenotype associated with MEF2C haploinsufficiency
F. Novara, S. Beri, R. Giorda, E. Ortibus +5 more
2010Clinical Genetics108 citations
Semantic Scholar
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis
B. V. van Bon, D. Koolen, R. Borgatti, A. Magee +27 more
2008Journal of Medical Genetics97 citations
Semantic Scholar
Diagnostic implications of genetic copy number variation in epilepsy plus
A. Coppola, E. Cellini, H. Stamberger, E. Saarentaus +72 more
2019Epilepsia89 citations Open access
Semantic Scholar
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
V. Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, E. Parrini +22 more
2013Brain : a journal of neurology83 citations Open access
Semantic Scholar
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype
B. V. van Bon, D. Koolen, L. Brueton, D. McMullan +28 more
2010European Journal of Human Genetics82 citations Open access
Semantic Scholar
Endothelial colony-forming cells from patients with chronic myeloproliferative disorders lack the disease-specific molecular clonality marker.
G. Piaggio, V. Rosti, M. Corselli, F. Bertolotti +18 more
2009Blood82 citations
Semantic Scholar
Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.
R. Giorda, M. Bonaglia, S. Beri, M. Fichera +30 more
2009American Journal of Human Genetics77 citations Open access
Semantic Scholar
Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC16A2 mutations
G. Remerand, O. Boespflug-Tanguy, D. Tonduti, R. Touraine +19 more
2019Developmental Medicine & Child Neurology76 citations Open access
Semantic Scholar
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy
D. Mei, C. Marini, F. Novara, B. Bernardina +7 more
2010Epilepsia74 citations
Semantic Scholar
Phenotypical/functional characterization of in vitro-expanded mesenchymal stromal cells from patients with Crohn's disease.
M. Bernardo, M. Avanzini, R. Ciccocioppo, C. Perotti +10 more
2009Cytotherapy69 citations
Semantic Scholar
Distinct transcriptional profiles characterize bone microenvironment mesenchymal cells rather than osteoblasts in relationship with multiple myeloma bone disease.
K. Todoerti, G. Lisignoli, P. Storti, L. Agnelli +14 more
2010Experimental Hematology66 citations Open access
Semantic Scholar
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
N. de Rocker, S. Vergult, D. Koolen, Eva Z. Jacobs +32 more
2014Genetics in Medicine57 citations Open access
Semantic Scholar
MCT8 Deficiency: Extrapyramidal Symptoms and Delayed Myelination as Prominent Features
D. Tonduti, A. Vanderver, A. Berardinelli, Johanna L. Schmidt +9 more
2012Journal of Child Neurology57 citations Open access
Semantic Scholar
Genotype–phenotype relationship in three cases with overlapping 19p13.12 microdeletions
M. Bonaglia, S. Marelli, F. Novara, Simona Commodaro +11 more
2010European Journal of Human Genetics56 citations Open access
Semantic Scholar
Scanning electron microscopy analysis of the growth of dental plaque on the surfaces of removable orthodontic aligners after the use of different cleaning methods
L. Levrini, F. Novara, Silvia Margherini, Camilla Tenconi +1 more
2015Clinical, Cosmetic and Investigational Dentistry55 citations Open access
Semantic Scholar
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion
C. Torniero, Bernardo Dalla Bernardina, F. Novara, R. Cerini +5 more
2008European Journal of Human Genetics55 citations Open access
Semantic Scholar
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy
J. DiFrancesco, F. Novara, O. Zuffardi, A. Forlino +12 more
2015Neurological Sciences53 citations
Semantic Scholar
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams–Beuren locus
C. Torniero, Bernardo Dalla Bernardina, F. Novara, A. Vetro +5 more
2007European Journal of Human Genetics51 citations
Semantic Scholar
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases
F. Novara, Berardo Rinaldi, S. Sisodiya, A. Coppola +17 more
2017European Journal of Human Genetics49 citations Open access
Semantic Scholar
Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood
F. Novara, S. Beri, M. Bernardo, R. Bellazzi +6 more
2009Human Genetics43 citations Open access
Semantic Scholar
Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings
Maurizio Rondinelli, F. Novara, V. Calcaterra, O. Zuffardi +1 more
2015Acta Diabetologica37 citations
Semantic Scholar
Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan–Herndon–Dudley Syndrome
F. Novara, Stefan Groeneweg, E. Freri, M. Estienne +6 more
2017Human Mutation34 citations Open access
Semantic Scholar
Functional and genetic aberrations of in vitro-cultured marrow-derived mesenchymal stromal cells of patients with classical Philadelphia-negative myeloproliferative neoplasms
M. Avanzini, M. E. Bernardo, F. Novara, M. Mantelli +21 more
2014Leukemia34 citations
Semantic Scholar
Neonatal suppression-burst without epileptic seizures: expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy
M. Mastrangelo, A. Peron, L. Spaccini, F. Novara +5 more
2013Epileptic disorders34 citations
Semantic Scholar
Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion
E. Cellini, Vittoria Disciglio, F. Novara, J. Barkovich +5 more
2012American Journal of Medical Genetics. Part A32 citations
Semantic Scholar
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
J. Bain, Olivia Thornburg, Cheryl Pan, D. Rome-Martin +18 more
2021Neurology: Genetics29 citations Open access
Semantic Scholar
Genomic alterations in human umbilical cord-derived mesenchymal stromal cells call for stringent quality control before any possible therapeutic approach.
A. Borghesi, M. Avanzini, F. Novara, M. Mantelli +13 more
2013Cytotherapy27 citations
Semantic Scholar
Comprehensive characterization of mesenchymal stromal cells from patients with Fanconi anaemia
M. Mantelli, M. Avanzini, V. Rosti, Daniela Ingo +24 more
2015British Journal of Haematology26 citations Open access
Semantic Scholar
MEF2C deletions and mutations versus duplications: a clinical comparison.
F. Novara, Ambra Rizzo, G. Bedini, Vita Girgenti +9 more
2013European Journal of Medical Genetics26 citations
Semantic Scholar
Three cases of primary cutaneous lymphoblastic lymphoma: microarray-based comparative genomic hybridization and gene expression profiling studies with review of literature
P. Vezzoli, F. Novara, D. Fanoni, D. Gambini +5 more
2012Leukemia and Lymphoma26 citations
Semantic Scholar
A Therapeutic Challenge: Liddle's Syndrome Managed with Amiloride during Pregnancy
A. Caretto, L. Primerano, F. Novara, O. Zuffardi +2 more
2014Case Reports in Obstetrics and Gynecology24 citations Open access
Semantic Scholar
Heterozygous deletion of CHL1 gene: detailed array-CGH and clinical characterization of a new case and review of the literature.
E. Tassano, R. Biancheri, L. Denegri, Simona Porta +4 more
2014European Journal of Medical Genetics24 citations
Semantic Scholar
Cell‐cycle phases and genetic profile of bone marrow‐derived mesenchymal stromal cells expanded in vitro from healthy donors
V. Achille, M. Mantelli, G. Arrigo, F. Novara +6 more
2011Journal of Cellular Biochemistry24 citations
Semantic Scholar
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3
Giulia Cova, Julia D. Glaser, R. Schöpflin, C. Prada-Medina +13 more
2022bioRxiv23 citations Open access
Semantic Scholar
De novo unbalanced translocations have a complex history/aetiology
M. Bonaglia, N. Kurtas, E. Errichiello, Sara Bertuzzo +23 more
2018Human Genetics23 citations Open access
Semantic Scholar
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force
Berardo Rinaldi, Alessandro Vaisfeld, S. Amarri, C. Baldo +11 more
2017Orphanet Journal of Rare Diseases23 citations Open access
Semantic Scholar
Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature
E. Errichiello, F. Novara, A. Cremante, A. Verri +6 more
2016Molecular Cytogenetics23 citations Open access
Semantic Scholar
MECP2 duplication phenotype in symptomatic females: report of three further cases
F. Novara, A. Simonati, F. Sicca, R. Battini +5 more
2014Molecular Cytogenetics23 citations Open access
Semantic Scholar
22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature.
Giulia Valvo, F. Novara, P. Brovedani, A. Ferrari +3 more
2012Epilepsy & Behavior22 citations
Semantic Scholar
Oral Signs and HLA-DQB1∗02 Haplotypes in the Celiac Paediatric Patient: A Preliminary Study
M. Erriu, G. M. Abbate, F. Pili, F. Novara +4 more
2013Autoimmune Diseases21 citations Open access
Semantic Scholar

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