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Author Details
Full Name
Paolo Fontana
Affiliation
San Pio Hospital
ORCID
Career Start Year
1999
Papers
84
H Index
25
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
36322151
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
Genet Med
2023
37518157
A taxonomic revision of the Palaearctic genus Roeseliana (Orthoptera: Tettigoniidae: Tettigoniinae: Platycleidini): a case of ongoing Mediterranean speciation.
Zootaxa
2023
37518144
Dinarippiger gen. nov. (Tettigoniidae: Bradyporinae: Ephippigerini), a new saddle bush-cricket genus for Ephippiger discoidalis Fieber, 1853 from the Dinaric karst.
Zootaxa
2023
37510348
A Novel Homozygous <i>GPAA1</i> Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect.
Genes (Basel)
2023
37644171
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Eur J Hum Genet
2023
37100787
Early 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 Med
2023
34232366
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.
Eur J Pediatr
2022
36513410
A bulked segregant analysis tool for out-crossing species (BSATOS) and QTL-based genomics-assisted prediction of complex traits in apple.
J Adv Res
2022
35215992
Rapid SARS-CoV-2 Intra-Host and Within-Household Emergence of Novel Haplotypes.
Viruses
2022
35336987
On the Origin and Propagation of the COVID-19 Outbreak in the Italian Province of Trento, a Tourist Region of Northern Italy.
Viruses
2022
35323591
Different Distribution Patterns of Hoverflies (Diptera: Syrphidae) and Bees (Hymenoptera: Anthophila) Along Altitudinal Gradients in Dolomiti Bellunesi National Park (Italy).
Insects
2022
33259933
Radical Hemithoracic Radiotherapy Versus Palliative Radiotherapy in Non-metastatic Malignant Pleural Mesothelioma: Results from a Phase 3 Randomized Clinical Trial.
Int J Radiat Oncol Biol Phys
2021
34992808
Long-term outcomes after lung-sparing surgery for epithelial mesothelioma.
J Thorac Dis
2021
34461323
A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype.
Eur J Med Genet
2021
34504730
De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple Anomalies.
J Pediatr Genet
2021
33956844
Studying genetic population structure to shed light on the demographic explosion of the rare species Barbitistes vicetinus (Orthoptera, Tettigoniidae).
PLoS One
2021
33442900
Clinical 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 A
2021
32488387
Carbohydrate determination in honey samples by ion chromatography-mass spectrometry (HPAEC-MS).
Anal Bioanal Chem
2020
31090057
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.
Clin Genet
2019
31744546
The CAFA challenge reports improved protein function prediction and new functional annotations for hundreds of genes through experimental screens.
Genome Biol
2019
31716581
A new voice from Sardinia: Uromenus annae (Targioni-Tozzetti, 1881Â (Insecta: Orthoptera: Tettigoniidae: Bradyporinae: Ephippigerini).
Zootaxa
2019
31716386
A new rare species of Oedipoda Latreille, 1829 (Orthoptera: Acrididae) from South Italy.
Zootaxa
2019
29556243
Transcriptome and Cell Physiological Analyses in Different Rice Cultivars Provide New Insights Into Adaptive and Salinity Stress Responses.
Front Plant Sci
2018
30314125
Studies 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.
Zootaxa
2018
29443330
Reply to the Letter: "Sensorineural Hearing Loss and Congenital Cytomegalovirus Infection".
J Pediatr Genet
2018
27683195
First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.
Am J Med Genet A
2017
28462983
Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome.
Am J Med Genet A
2017
28111183
Brachydactyly type E in an Italian family with 6p25 trisomy.
Eur J Med Genet
2017
28158604
Pathway Inspector: a pathway based web application for RNAseq analysis of model and non-model organisms.
Bioinformatics
2017
28266014
SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly.
Clin Genet
2017
28419212
Pleurectomy-decortication in malignant pleural mesothelioma: are different surgical techniques associated with different outcomes? Results from a multicentre study.
Eur J Cardiothorac Surg
2017
29242421
Studies in Mexican Grasshoppers: Three new species of Dactylotini (Acrididae: Melanoplinae) from Mexico and a review of existing conspecifics with comments on their geographical distributions.
Zootaxa
2017
28794912
Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?
J Pediatr Genet
2017
27072107
New 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 Pediatr
2016
26318087
Enhancing protein function prediction with taxonomic constraints--The Argot2.5 web server.
Methods
2016
27604469
An expanded evaluation of protein function prediction methods shows an improvement in accuracy.
Genome Biol
2016
27534507
Eliciting the Functional Taxonomy from protein annotations and taxa.
Sci Rep
2016
27374896
A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features.
Am J Med Genet A
2016
25534982
Identification of low temperature stress regulated transcript sequences and gene families in Italian cypress.
Mol Biotechnol
2015
26281826
Radical Radiation Therapy After Lung-Sparing Surgery for Malignant Pleural Mesothelioma: Survival, Pattern of Failure, and Prognostic Factors.
Int J Radiat Oncol Biol Phys
2015
26689541
Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome.
Mol Cytogenet
2015
26234872
Reply: To PMID 24726598.
Ann Thorac Surg
2015
26163973
Prognostic Score of Long-Term Survival After Surgery for Malignant Pleural Mesothelioma: A Multicenter Analysis.
Ann Thorac Surg
2015
25988396
MICCA: a complete and accurate software for taxonomic profiling of metagenomic data.
Sci Rep
2015
24216141
Radical pleurectomy/decortication followed by high dose of radiation therapy for malignant pleural mesothelioma. Final results with long-term follow-up.
Lung Cancer
2014
24870186
Studies in Mexican Grasshoppers: Liladownsia fraile, a new genus and species of Dactylotini (Acrididae: Melanoplinae) and an updated molecular phylogeny of Melanoplinae.
Zootaxa
2014
24867942
keeSeek: searching distant non-existing words in genomes for PCR-based applications.
Bioinformatics
2014
24505246
Characterization of resistance gene analogues (RGAs) in apple (Malus ÿ domestica Borkh.) and their evolutionary history of the Rosaceae family.
PLoS One
2014
24564404
Reducing bias in RNA sequencing data: a novel approach to compute counts.
BMC Bioinformatics
2014
24699266
The draft genome sequence of European pear (Pyrus communis L. 'Bartlett').
PLoS One
2014
1 - 50 of 84
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