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Author Details

Paolo Fontana
San Pio Hospital
1999
84
25
PMIDPaper TitleJournal TitlePublished Year
36322151Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.Genet Med2023
37518157A taxonomic revision of the Palaearctic genus Roeseliana (Orthoptera: Tettigoniidae: Tettigoniinae: Platycleidini): a case of ongoing Mediterranean speciation.Zootaxa2023
37518144Dinarippiger gen. nov. (Tettigoniidae: Bradyporinae: Ephippigerini), a new saddle bush-cricket genus for Ephippiger discoidalis Fieber, 1853 from the Dinaric karst.Zootaxa2023
37510348A Novel Homozygous <i>GPAA1</i> Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect.Genes (Basel)2023
37644171CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.Eur J Hum Genet2023
37100787Early prenatal diagnosis of a recurrent case of short-rib thoracic dysplasia 3 due to compound heterozygosity for variations in the DYNC2H1 gene: an "ultrasound first" approach.J Matern Fetal Neonatal Med2023
34232366Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.Eur J Pediatr2022
36513410A bulked segregant analysis tool for out-crossing species (BSATOS) and QTL-based genomics-assisted prediction of complex traits in apple.J Adv Res2022
35215992Rapid SARS-CoV-2 Intra-Host and Within-Household Emergence of Novel Haplotypes.Viruses2022
35336987On the Origin and Propagation of the COVID-19 Outbreak in the Italian Province of Trento, a Tourist Region of Northern Italy.Viruses2022
35323591Different Distribution Patterns of Hoverflies (Diptera: Syrphidae) and Bees (Hymenoptera: Anthophila) Along Altitudinal Gradients in Dolomiti Bellunesi National Park (Italy).Insects2022
33259933Radical Hemithoracic Radiotherapy Versus Palliative Radiotherapy in Non-metastatic Malignant Pleural Mesothelioma: Results from a Phase 3 Randomized Clinical Trial.Int J Radiat Oncol Biol Phys2021
34992808Long-term outcomes after lung-sparing surgery for epithelial mesothelioma.J Thorac Dis2021
34461323A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype.Eur J Med Genet2021
34504730De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple Anomalies.J Pediatr Genet2021
33956844Studying genetic population structure to shed light on the demographic explosion of the rare species Barbitistes vicetinus (Orthoptera, Tettigoniidae).PLoS One2021
33442900Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.Am J Med Genet A2021
32488387Carbohydrate determination in honey samples by ion chromatography-mass spectrometry (HPAEC-MS).Anal Bioanal Chem2020
31090057Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.Clin Genet2019
31744546The CAFA challenge reports improved protein function prediction and new functional annotations for hundreds of genes through experimental screens.Genome Biol2019
31716581A new voice from Sardinia: Uromenus annae (Targioni-Tozzetti, 1881 (Insecta: Orthoptera: Tettigoniidae: Bradyporinae: Ephippigerini).Zootaxa2019
31716386A new rare species of Oedipoda Latreille, 1829 (Orthoptera: Acrididae) from South Italy.Zootaxa2019
29556243Transcriptome and Cell Physiological Analyses in Different Rice Cultivars Provide New Insights Into Adaptive and Salinity Stress Responses.Front Plant Sci2018
30314125Studies in Mexican Grasshoppers: A new species of Pedies Saussure (Acrididae: Melanoplinae) with comments on the unusual blue coloration on the abdomens of females and live specimen images for three other congenerics.Zootaxa2018
29443330Reply to the Letter: "Sensorineural Hearing Loss and Congenital Cytomegalovirus Infection".J Pediatr Genet2018
27683195First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.Am J Med Genet A2017
28462983Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome.Am J Med Genet A2017
28111183Brachydactyly type E in an Italian family with 6p25 trisomy.Eur J Med Genet2017
28158604Pathway Inspector: a pathway based web application for RNAseq analysis of model and non-model organisms.Bioinformatics2017
28266014SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly.Clin Genet2017
28419212Pleurectomy-decortication in malignant pleural mesothelioma: are different surgical techniques associated with different outcomes? Results from a multicentre study.Eur J Cardiothorac Surg2017
29242421Studies in Mexican Grasshoppers: Three new species of Dactylotini (Acrididae: Melanoplinae) from Mexico and a review of existing conspecifics with comments on their geographical distributions.Zootaxa2017
28794912Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?J Pediatr Genet2017
27072107New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.Ital J Pediatr2016
26318087Enhancing protein function prediction with taxonomic constraints--The Argot2.5 web server.Methods2016
27604469An expanded evaluation of protein function prediction methods shows an improvement in accuracy.Genome Biol2016
27534507Eliciting the Functional Taxonomy from protein annotations and taxa.Sci Rep2016
27374896A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features.Am J Med Genet A2016
25534982Identification of low temperature stress regulated transcript sequences and gene families in Italian cypress.Mol Biotechnol2015
26281826Radical Radiation Therapy After Lung-Sparing Surgery for Malignant Pleural Mesothelioma: Survival, Pattern of Failure, and Prognostic Factors.Int J Radiat Oncol Biol Phys2015
26689541Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome.Mol Cytogenet2015
26234872Reply: To PMID 24726598.Ann Thorac Surg2015
26163973Prognostic Score of Long-Term Survival After Surgery for Malignant Pleural Mesothelioma: A Multicenter Analysis.Ann Thorac Surg2015
25988396MICCA: a complete and accurate software for taxonomic profiling of metagenomic data.Sci Rep2015
24216141Radical pleurectomy/decortication followed by high dose of radiation therapy for malignant pleural mesothelioma. Final results with long-term follow-up.Lung Cancer2014
24870186Studies in Mexican Grasshoppers: Liladownsia fraile, a new genus and species of Dactylotini (Acrididae: Melanoplinae) and an updated molecular phylogeny of Melanoplinae.Zootaxa2014
24867942keeSeek: searching distant non-existing words in genomes for PCR-based applications.Bioinformatics2014
24505246Characterization of resistance gene analogues (RGAs) in apple (Malus ÿ domestica Borkh.) and their evolutionary history of the Rosaceae family.PLoS One2014
24564404Reducing bias in RNA sequencing data: a novel approach to compute counts.BMC Bioinformatics2014
24699266The draft genome sequence of European pear (Pyrus communis L. 'Bartlett').PLoS One2014
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Collaborators

University of Padova
Co-authored papers 18
University of Padova
Co-authored papers 13
University of Padova
Co-authored papers 9
Royal Holloway University of London
Co-authored papers 3
University of Padova
Co-authored papers 3
Institute of Biotechnology, University of Helsinki
Co-authored papers 3
University of Turku
Co-authored papers 3
Institute of Biotechnology, University of Helsinki
Co-authored papers 3
Temple University
Co-authored papers 3
University of Kent
Co-authored papers 3
University of London
Co-authored papers 3
Medical Research Council Laboratory of Molecular Biology
Co-authored papers 3
University College London, Institute of Structural and Molecular Biology
Co-authored papers 3
University of Missouri
Co-authored papers 3
University of Miami
Co-authored papers 3
Indiana University
Co-authored papers 3
Catalan Institution for Research and Advanced Studies (ICREA)
Co-authored papers 3
University of Galway
Co-authored papers 3
University of Washington
Co-authored papers 3
University of Bristol
Co-authored papers 3
University of California san francisco
Co-authored papers 3
Colorado State University
Co-authored papers 3
Institute of Life Sciences, The Hebrew University of Jerusalem
Co-authored papers 3
Purdue University
Co-authored papers 3
Iowa State University
Co-authored papers 3
University College London
Co-authored papers 3
University of California berkeley
Co-authored papers 3
Department of Pharmacy and Biotechnology, University of Bologna
Co-authored papers 3
Technical University of Munich (TUM)
Co-authored papers 3
Imperial College London
Co-authored papers 3