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A. Ciolfi · SciRah

Researcher profile · Semantic Scholar

A. Ciolfi

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A. Ciolfi — researcher profile on SciRah

h-index: 41
Works: 148
Citations: 5,268

Most-cited papers

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population
E. Benetti, R. Tita, O. Spiga, A. Ciolfi +134 more
2020European Journal of Human Genetics205 citations Open access
Semantic Scholar
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
E. Aref-Eshghi, J. Kerkhof, V. Pedro, Groupe di France +65 more
2021American Journal of Human Genetics172 citations Open access
Semantic Scholar
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
E. Aref-Eshghi, J. Kerkhof, V. Pedro, M. Barat-Houari +64 more
2020American Journal of Human Genetics155 citations Open access
Semantic Scholar
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
M. Levy, H. McConkey, J. Kerkhof, M. Barat-Houari +83 more
2021HGG advances152 citations Open access
Semantic Scholar
Modeling medulloblastoma in vivo and with human cerebellar organoids
C. Ballabio, M. Anderle, M. Gianesello, C. Lago +14 more
2020Nature Communications150 citations Open access
Semantic Scholar
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
F. Radio, Kaifang Pang, A. Ciolfi, M. Levy +110 more
2021American Journal of Human Genetics80 citations Open access
Semantic Scholar
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
M. Motta, Luca Pannone, F. Pantaleoni, G. Bocchinfuso +46 more
2020American Journal of Human Genetics79 citations Open access
Semantic Scholar
CD28.OX40 co-stimulatory combination is associated with long in vivo persistence and high activity of CAR.CD30 T cells
M. Guercio, D. Orlando, S. Di Cecca, M. Sinibaldi +26 more
2020Haematologica63 citations Open access
Semantic Scholar
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
M. Levy, R. Relator, H. McConkey, Erinija Pranckevičienė +88 more
2022Human Mutation60 citations Open access
Semantic Scholar
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Yuh-Charn Lin, M. Niceta, V. Muto, B. Vona +42 more
2020American Journal of Human Genetics60 citations Open access
Semantic Scholar
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment
C. Rodger, E. Flex, Rachel Allison, A. Sanchis-Juan +25 more
2020American Journal of Human Genetics59 citations Open access
Semantic Scholar
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
M. Motta, Giulia Fasano, Sina Gredy, Julia Brinkmann +29 more
2021American Journal of Human Genetics58 citations Open access
Semantic Scholar
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
E. Flex, S. Martinelli, A. van Dijck, A. Ciolfi +56 more
2019American Journal of Human Genetics55 citations Open access
Semantic Scholar
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature
A. Ciolfi, E. Aref-Eshghi, S. Pizzi, L. Pedace +15 more
2020Clinical Epigenetics48 citations Open access
Semantic Scholar
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies
R. Holt, R. Young, B. Crespo, F. Ceroni +30 more
2019American Journal of Human Genetics48 citations Open access
Semantic Scholar
ACE2 variants underlie interindividual variability and susceptibility to COVID-19 in Italian population
A. Renieri, E. Benetti, R. Tita, Ottavia Spiga +22 more
2020medRxiv41 citations Open access
Semantic Scholar
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
T. Nguyen, Y. Murakami, S. Mobilio, M. Niceta +34 more
2020American Journal of Human Genetics40 citations Open access
Semantic Scholar
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration.
Maya M. Polovitskaya, Carlo Barbini, D. Martinelli, F. L. Harms +16 more
2020American Journal of Human Genetics38 citations Open access
Semantic Scholar
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile
A. Ciolfi, A. Foroutan, A. Capuano, L. Pedace +23 more
2021Clinical Epigenetics33 citations Open access
Semantic Scholar
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
R. V. van Jaarsveld, Jack Reilly, M. Cornips, M. A. Hadders +55 more
2022Genetics in Medicine30 citations Open access
Semantic Scholar
DNA Methylation Profiling for Diagnosing Undifferentiated Sarcoma with Capicua Transcriptional Receptor (CIC) Alterations
E. Miele, R. De Vito, A. Ciolfi, L. Pedace +8 more
2020International Journal of Molecular Sciences29 citations Open access
Semantic Scholar
A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID
D. Cesana, M. Cicalese, A. Calabria, P. Merli +42 more
2024Nature Communications27 citations Open access
Semantic Scholar
Brain malformations and seizures by impaired chaperonin function of TRiC
Florian Kraft, Piere Rodriguez-Aliaga, Wei-Xi Yuan, L. Franken +83 more
2024Science25 citations Open access
Semantic Scholar
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
B. Yaldiz, Erdi Kucuk, J. Hampstead, T. Hofste +296 more
2023Human Genomics24 citations Open access
Semantic Scholar
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis
Lisa Pavinato, Marina Villamor-Payà, María Sanchiz-Calvo, C. Andreoli +22 more
2020Journal of Medical Genetics22 citations Open access
Semantic Scholar
Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations.
S. Barresi, M. Dentici, F. Manzoni, E. Bellacchio +12 more
2019Pediatric Neurology22 citations
Semantic Scholar
Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature
A. Marzollo, F. Conti, Linda Rossini, B. Rivalta +17 more
2021Journal of Clinical Immunology20 citations Open access
Semantic Scholar
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
A. Sferra, P. Fortugno, M. Motta, C. Aiello +20 more
2021Brain : a journal of neurology20 citations Open access
Semantic Scholar
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review
M. Niceta, M. Dentici, A. Ciolfi, R. Marini +8 more
2020BMC Pediatrics19 citations Open access
Semantic Scholar
DICER1-associated malignancies mimicking germ cell neoplasms: Report of two cases and review of the literature.
S. Rossi, S. Barresi, A. Stracuzzi, O. Lopez-Nunez +8 more
2021Pathology, Research and Practice18 citations
Semantic Scholar
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder
P. Blackburn, F. Ebstein, Tzung-Chien Hsieh, M. Motta +75 more
2024Annals of Neurology17 citations Open access
Semantic Scholar
Pediatric BCOR-Altered Tumors From Soft Tissue/Kidney Display Specific DNA Methylation Profiles.
Cláudia M. Salgado, R. Alaggio, A. Ciolfi, A. Zin +13 more
2023Modern Pathology17 citations Open access
Semantic Scholar
Expanding the spectrum of EWSR1‐PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination
S. Rossi, S. Barresi, I. Giovannoni, V. Alesi +12 more
2020Brain Pathology17 citations Open access
Semantic Scholar
Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition.
M. Trivisano, Manuel J. Rivera, A. Terracciano, A. Ciolfi +8 more
2020Epilepsy & Behavior17 citations
Semantic Scholar
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome
A. Foroutan, S. Haghshenas, P. Bhai, M. Levy +27 more
2022International Journal of Molecular Sciences16 citations Open access
Semantic Scholar
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism.
S. Martinelli, Viviana Cordeddu, S. Galosi, A. Lanzo +29 more
2020Parkinsonism & Related Disorders16 citations Open access
Semantic Scholar
Clinicopathological and molecular landscape of 5-year IDH-wild-type glioblastoma survivors: A multicentric retrospective study.
E. Miele, E. Anghileri, C. Calatozzolo, E. Lazzarini +28 more
2024Cancer Letters15 citations
Semantic Scholar
Melanotic Neuroectodermal Tumor of Infancy (MNTI) and Pineal Anlage Tumor (PAT) Harbor A Medulloblastoma Signature by DNA Methylation Profiling
O. Lopez-Nunez, R. Alaggio, I. John, A. Ciolfi +11 more
2021Cancers15 citations Open access
Semantic Scholar
Identification of a robust DNA methylation signature for Fanconi anemia.
D. Pagliara, A. Ciolfi, L. Pedace, S. Haghshenas +28 more
2023American Journal of Human Genetics14 citations Open access
Semantic Scholar
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation
U. S. Melo, Jerome Jatzlau, C. Prada-Medina, E. Flex +24 more
2023Nature Communications14 citations Open access
Semantic Scholar
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants
Marco Ferilli, A. Ciolfi, L. Pedace, M. Niceta +26 more
2022Genes13 citations Open access
Semantic Scholar
Expanding the mutational spectrum of ReNU syndrome: insights into 5’ Stem-loop variants
A. Bruselles, Cecilia Mancini, L. Chiriatti, Mattia Carvetta +23 more
2025European Journal of Human Genetics12 citations Open access
Semantic Scholar
Wnt/β-catenin activation by mutually exclusive FBXW11 and CTNNB1 hotspot mutations drives salivary basal cell adenoma
K. Wong, J. Bishop, I. Weinreb, M. Motta +24 more
2025Nature Communications12 citations Open access
Semantic Scholar
Ketogenic Diet and Progression of Kidney Disease in Animal Models of Nephropathic Cystinosis
F. Bellomo, Sara Pugliese, S. Cairoli, Patrick Krohn +14 more
2024Journal of the American Society of Nephrology12 citations Open access
Semantic Scholar
Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?
M. Chiriacò, G. M. Ursu, D. Amodio, N. Cotugno +30 more
2022Frontiers in Immunology12 citations Open access
Semantic Scholar
Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement
Davide Leardini, E. Flex, E. Stieglitz, Sara Cerasi +23 more
2025European Journal of Human Genetics11 citations Open access
Semantic Scholar
Evaluating cell culture reliability in pediatric brain tumor primary cells through DNA methylation profiling
L. Pedace, S. Pizzi, L. Abballe, M. Vinci +15 more
2024npj Precision Oncology11 citations Open access
Semantic Scholar
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function
Giovanna Carpentieri, S. Cecchetti, G. Bocchinfuso, F. Radio +31 more
2024HGG advances11 citations Open access
Semantic Scholar
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism
M. Niceta, A. Ciolfi, Marco Ferilli, L. Pedace +20 more
2024European Journal of Human Genetics11 citations Open access
Semantic Scholar
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants
M. Priolo, Erika Zara, F. Radio, A. Ciolfi +12 more
2023European Journal of Human Genetics11 citations Open access
Semantic Scholar

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