Novelli, Antonio Autor
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease
- Siri B.
- Olivieri G.
- Lepri F.R.
- Poms M.
- Goffredo B.M.
- Commone A.
- Novelli A.
- Häberle J.
- Dionisi-Vici C.
Orphanet Journal of Rare Diseases - 1/12/2024
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
- Li D.
- Wang Q.
- Bayat A.
- Battig M.R.
- Zhou Y.
- Bosch D.G.M.
- van Haaften G.
- Granger L.
- Petersen A.K.
- Pérez-Jurado L.A.
- Aznar-Laín G.
- Aneja A.
- Hancarova M.
- Bendova S.
- Schwarz M.
- Pourova R.K.
- Sedlacek Z.
- Keena B.A.
- March M.E.
- Hou C.
- O’Connor N.
- Bhoj E.J.
- Harr M.H.
- Lemire G.
- Boycott K.M.
- Towne M.
- Li M.
- Tarnopolsky M.
- Brady L.
- Parker M.J.
- Faghfoury H.
- Parsley L.K.
- Agolini E.
- Dentici M.L.
- Novelli A.
- Wright M.
- Palmquist R.
- Lai K.
- Scala M.
- Striano P.
- Iacomino M.
- Zara F.
- Cooper A.
- Maarup T.J.
- Byler M.
- Lebel R.R.
- Balci T.B.
- Louie R.
- Lyons M.
- Douglas J.
- Nowak C.
- Afenjar A.
- Hoyer J.
- Keren B.
- Maas S.M.
- Motazacker M.M.
- Martinez-Agosto J.A.
- Rabani A.M.
- McCormick E.M.
- Falk M.J.
- Ruggiero S.M.
- Helbig I.
- Møller R.S.
- Tessarollo L.
- Ardori F.T.
- Palko M.E.
- Hsieh T.C.
- Krawitz P.M.
- Ganapathi M.
- Gelb B.D.
- Jobanputra V.
- Wilson A.
- Greally J.
- Jacquemont S.
- Jizi K.
- Bruel A.L.
- Quelin C.
- Misra V.K.
- Chick E.
- Romano C.
- Greco D.
- Arena A.
- Morleo M.
- Nigro V.
- Seyama R.
- Uchiyama Y.
- Matsumoto N.
- Taira R.
- Tashiro K.
- Sakai Y.
- Yigit G.
- Wollnik B.
- Wagner M.
- Kutsche B.
- Hurst A.C.E.
- Thompson M.L.
- Schmidt R.
- Randolph L.
- Spillmann R.C.
- Shashi V.
Journal of Clinical Investigation - 20/1/2024
- CiteScore: 23,7 (2022)
- SJR: 5,117 (2022)
- SNIP: 2,423 (2022)
Case Report: A rare form of congenital erythrocytosis due to SLC30A10 biallelic variants—differential diagnosis and recommendation for biochemical and genetic screening
- Giannini R.
- Agolini E.
- Palumbo G.
- Novelli A.
- Garone G.
- Grasso M.
- Colafati G.S.
- Matraxia M.
- Piccirilli E.
- Deodati A.
- Ceglie G.
Frontiers in Pediatrics - 1/1/2024
Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle
- Fusco C.
- Nardella G.
- Morlino S.
- Micale L.
- Tragni V.
- Agolini E.
- Novelli A.
- Massuras S.
- Giambra V.
- Pierri C.L.
- Castori M.
Journal of Human Genetics - 1/1/2024
- CiteScore: 7 (2022)
- SJR: 1,089 (2022)
- SNIP: 1,086 (2022)
First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review
- Minale E.M.P.
- De Falco A.
- Agolini E.
- Novelli A.
- Russo R.
- Andolfo I.
- Iolascon A.
- Piscopo C.
Genes - 1/1/2024
Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant
Frontiers in Endocrinology - 1/1/2024
Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children
- Bastard P.
- Gervais A.
- Taniguchi M.
- Saare L.
- Särekannu K.
- Voyer T.L.
- Philippot Q.
- Rosain J.
- Bizien L.
- Asano T.
- Garcia-Prat M.
- Parra-Martínez A.
- Migaud M.
- Tsumura M.
- Conti F.
- Belot A.
- Rivière J.G.
- Morio T.
- Tanaka J.
- Javouhey E.
- Haerynck F.
- Duvlis S.
- Ozcelik T.
- Keles S.
- Tandjaoui-Lambiotte Y.
- Escoda S.
- Husain M.
- Pan-Hammarström Q.
- Hammarström L.
- Ahlijah G.
- Haidar A.A.
- Soudee C.
- Arseguel V.
- Abolhassani H.
- Sahanic S.
- Tancevski I.
- Nukui Y.
- Hayakawa S.
- Chrousos G.P.
- Michos A.
- Tatsi E.B.
- Filippatos F.
- Rodriguez-Palmero A.
- Troya J.
- Tipu I.
- Meyts I.
- Roussel L.
- Ostrowski S.R.
- Schidlowski L.
- Prando C.
- Condino-Neto A.
- Cheikh N.
- Bousfiha A.A.
- Bakkouri J.E.
- Peterson P.
- Pujol A.
- Lévy R.
- Quartier P.
- Vinh D.C.
- Boisson B.
- Béziat V.
- Zhang S.Y.
- Borghesi A.
- Pession A.
- Andreakos E.
- Marr N.
- Mentis A.F.A.
- H.mogensen T.
- Rodríguez-Gallego C.
- Soler-Palacin P.
- Colobran R.
- Tillmann V.
- Neven B.
- Trouillet-Assant S.
- Brodin P.
- Abel L.
- Jouanguy E.
- Zhang Q.
- Martinón-Torres F.
- Salas A.
- Gómez-Carballa A.
- Gonzalez-Granado L.I.
- Kisand K.
- Okada S.
- Puel A.
- Cobat A.
- Casanova J.L.
- Aguilera-Albesa S.
- Alkhater S.A.
- Alkan G.
- Castagnoli R.
- Cyrus C.
- Bozdemir S.E.
- Emiroglu M.
- Gulhan B.
- Erdeniz E.H.
- Hatipoglu N.
- Bayhan G.I.
- Jabandziev P.
- Yuksek S.K.
Journal of Experimental Medicine - 1/1/2024
- CiteScore: 24,1 (2022)
- SJR: 6,237 (2022)
- SNIP: 2,235 (2022)
Non-Invasive Prenatal Test Analysis Opens a Pandora’s Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome
- Politi C.
- Grillone K.
- Nocera D.
- Colao E.
- Bellisario M.L.
- Loddo S.
- Catino G.
- Novelli A.
- Perrotti N.
- Rodolfo I.
- Malatesta P.
Genes - 1/1/2024
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions
- Bensaid S.
- Bendahmane M.
- Loddo S.
- Poke G.
- Januel L.
- Nicolle R.
- Malan V.
- Chatron N.
- Ottombrino S.
- Dentici M.L.
- Novelli A.
- Digilio M.C.
- Sanlaville D.
American Journal of Medical Genetics, Part A - 1/1/2024
- CiteScore: 3,7 (2022)
- SJR: 0,79 (2022)
- SNIP: 1,165 (2022)
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism
- Niceta M.
- Ciolfi A.
- Ferilli M.
- Pedace L.
- Cappelletti C.
- Nardini C.
- Hildonen M.
- Chiriatti L.
- Miele E.
- Dentici M.L.
- Gnazzo M.
- Cesario C.
- Pisaneschi E.
- Baban A.
- Novelli A.
- Maitz S.
- Selicorni A.
- Squeo G.M.
- Merla G.
- Dallapiccola B.
- Tumer Z.
- Digilio M.C.
- Priolo M.
- Tartaglia M.
European Journal of Human Genetics - 1/1/2024
- CiteScore: 9,1 (2022)
- SJR: 1,764 (2022)
- SNIP: 1,676 (2022)
Optimizing multiresolution segmentation for extracting plastic greenhouses from worldview-3 imagery
- Aguilar M.
- Novelli A.
- Nemamoui A.
- Aguilar F.
- Lorca A.
- González-Yebra Ó.
Smart Innovation, Systems and Technologies - 1/1/2018
- Cuartil SJR: Q3
- CiteScore: 0,4 (2018)
- SJR: 0,123 (2018)
- SNIP: 0,345 (2018)
- Categorías SJR: Computer Science (miscellaneous) (Q3); Decision Sciences (miscellaneous) (Q4)
A new threshold relative radiometric correction algorithm (TRRCA) of multiband satellite data
- Novelli A.
- Aguilar M.
- Tarantino E.
Smart Innovation, Systems and Technologies - 1/1/2018
- Cuartil SJR: Q3
- CiteScore: 0,4 (2018)
- SJR: 0,123 (2018)
- SNIP: 0,345 (2018)
- Categorías SJR: Computer Science (miscellaneous) (Q3); Decision Sciences (miscellaneous) (Q4)
Static and Kinematic Surveys Using GNSS Multi-constellation Receivers and GPS, GLONASS and Galileo Data
- Raffaela Cefalo
- Antonio Novelli
- Tatiana Sluga
- Paolo Snider
- Eufemia Tarantino
- Agostino Tommasi
Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics) - 1/1/2018
- CiteScore: 1,8 (2020)
- SJR: 0,283 (2018)
- SNIP: 0,707 (2018)
- Scopus
- ORCID
- Web of Science
The use of geomorphological descriptors and landsat-8 spectral indices data for flood areas evaluation: A case study of Lato river basin
- Totaro, V.
- Gioia, A.
- Novelli, A.
- Caradonna, G.
Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics) - 1/1/2017
- CiteScore: 1,8 (2020)
- SJR: 0,295 (2017)
- SNIP: 0,673 (2017)
- Scopus
- ORCID
- Web of Science
C_AssesSeg concurrent computing version of AssesSeg: A benchmark between the new and previous version
- Novelli A.
- Aguilar M.
- Aguilar F.
- Nemmaoui A.
- Tarantino E.
Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics) - 1/1/2017
- Impacto Normalizado por Categoría: 0,294 (2017)
- CiteScore: 1,8 (2020)
- SJR: 0,295 (2017)
- SNIP: 0,673 (2017)
- Scopus
- ORCID
- Web of Science
Calibration of the CLAIR model by using landsat 8 surface reflectance higher-level data and MODIS leaf area index products
- Peschechera, G.
- Novelli, A.
- Caradonna, G.
- Fratino, U.
Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics) - 1/1/2017
- CiteScore: 1,8 (2020)
- SJR: 0,295 (2017)
- SNIP: 0,673 (2017)
- Scopus
- ORCID
- Web of Science
Comparing the MLC and JavaNNS approaches in classifying multi-temporal LANDSAT satellite imagery over an ephemeral river area
- Tarantino E.
- Novelli A.
- Aquilino M.
- Figorito B.
- Fratino U.
Civil and Environmental Engineering: Concepts, Methodologies, Tools, and Applications - 31/1/2016
10.4018/978-1-4666-9619-8.ch063
- Scopus
- ORCID
Improving the ANN classification accuracy of landsat data through spectral indices and linear transformations (PCA and TCT) Aimed at LU/LC Monitoring of a River Basin
- Novelli, A.
- Tarantino, E.
- Caradonna, G.
- Apollonio, C.
- Balacco, G.
- Piccinni, F.
Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics) - 1/1/2016
- CiteScore: 1,8 (2020)
- SJR: 0,339 (2016)
- SNIP: 0,676 (2016)
- Scopus
- ORCID
- Web of Science
Toward Near Real-Time Kinematics Differential Correction: In View of Geometrically Augmented Sensor Data for Mobile Microclimate Monitoring
- Stefano Tondini
- Farshad Hasanabadi
- Roberto Monsorno
- Antonio Novelli
14/11/2020
- ORCID
A data fusion Kalman filter algorithm to estimate leaf area index evolution by using Modis LAI and PROBA-V top of canopy synthesis data
- Novelli, A.
Proceedings of SPIE - The International Society for Optical Engineering - 1/1/2016
- CiteScore: 0,8 (2020)
- SJR: 0,24 (2016)
- SNIP: 0,425 (2016)
- Categorías SJR: Applied Mathematics; Computer Science Applications; Condensed Matter Physics; Electrical and Electronic Engineering; Electronic, Optical and Magnetic Materials
- Scopus
- ORCID
- Web of Science
Evaluation of relative radiometric correction techniques on Landsat 8 OLI sensor data
- Novelli, A.
- Caradonna, G.
- Tarantino, E.
Proceedings of SPIE - The International Society for Optical Engineering - 1/1/2016
- CiteScore: 0,8 (2020)
- SJR: 0,24 (2016)
- SNIP: 0,425 (2016)
- Categorías SJR: Applied Mathematics; Computer Science Applications; Condensed Matter Physics; Electrical and Electronic Engineering; Electronic, Optical and Magnetic Materials
- Scopus
- ORCID
- Web of Science
Testing high spatial resolution WorldView-2 imagery for retrieving the leaf area index
- Tarantino, E.
- Novelli, A.
- Laterza, M.
- Gioia, A.
Proceedings of SPIE - The International Society for Optical Engineering - 1/1/2015
- CiteScore: 0,8 (2020)
- SJR: 0,24 (2015)
- SNIP: 0,382 (2015)
- Categorías SJR: Applied Mathematics; Computer Science Applications; Condensed Matter Physics; Electrical and Electronic Engineering; Electronic, Optical and Magnetic Materials
- Scopus
- ORCID
- Web of Science
The contribution of Landsat 8 TIRS sensor data to the identification of plastic covered vineyards
- Novelli, A.
- Tarantino, E.
Proceedings of SPIE - The International Society for Optical Engineering - 1/1/2015
- Cuartil JCR: Q2 (2015)
- Impacto Normalizado por Categoría: 1,273 (2015)
- CiteScore: 0,8 (2020)
- SJR: 0,24 (2015)
- SNIP: 0,382 (2015)
- Categorías SJR: Applied Mathematics; Computer Science Applications; Condensed Matter Physics; Electrical and Electronic Engineering; Electronic, Optical and Magnetic Materials
- Scopus
- ORCID
- Web of Science
Evaluating the potential of GeoEye data in retrieving LAI at watershed scale
- Aquilino, M.
- Novelli, A.
- Tarantino, E.
- Iacobellis, V.
- Gentile, F.
Proceedings of SPIE - The International Society for Optical Engineering - 1/1/2014
- Cuartil JCR: Q2 (2014)
- Impacto Normalizado por Categoría: 0,827 (2014)
- CiteScore: 0,8 (2020)
- SJR: 0,248 (2014)
- SNIP: 0,433 (2014)
- Categorías SJR: Applied Mathematics; Computer Science Applications; Condensed Matter Physics; Electrical and Electronic Engineering; Electronic, Optical and Magnetic Materials
- Scopus
- ORCID
- Web of Science
Este autor no tiene patentes.
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 (Genome Medicine, (2023), 15, 1, (22), 10.1186/s13073-023-01173-8)
- Matuozzo D.
- Talouarn E.
- Marchal A.
- Zhang P.
- Manry J.
- Seeleuthner Y.
- Zhang Y.
- Bolze A.
- Chaldebas M.
- Milisavljevic B.
- Gervais A.
- Bastard P.
- Asano T.
- Bizien L.
- Barzaghi F.
- Abolhassani H.
- Tayoun A.A.
- Aiuti A.
- Darazam I.A.
- Allende L.M.
- Alonso-Arias R.
- Arias A.A.
- Aytekin G.
- Bergman P.
- Bondesan S.
- Bryceson Y.T.
- Bustos I.G.
- Cabrera-Marante O.
- Carcel S.
- Carrera P.
- Casari G.
- Chaïbi K.
- Colobran R.
- Condino-Neto A.
- Covill L.E.
- Delmonte O.M.
- Zein L.E.
- Flores C.
- Gregersen P.K.
- Gut M.
- Haerynck F.
- Halwani R.
- Hancerli S.
- Hammarström L.
- Hatipoğlu N.
- Karbuz A.
- Keles S.
- Kyheng C.
- Leon-Lopez R.
- Franco J.L.
- Mansouri D.
- Martinez-Picado J.
- Akcan O.M.
- Migeotte I.
- Morange P.E.
- Morelle G.
- Martin-Nalda A.
- Novelli G.
- Novelli A.
- Ozcelik T.
- Palabiyik F.
- Pan-Hammarström Q.
- de Diego R.P.
- Planas-Serra L.
- Pleguezuelo D.E.
- Prando C.
- Pujol A.
- Reyes L.F.
- Rivière J.G.
- Rodriguez-Gallego C.
- Rojas J.
- Rovere-Querini P.
- Schlüter A.
- Shahrooei M.
- Sobh A.
- Soler-Palacin P.
- Tandjaoui-Lambiotte Y.
- Tipu I.
- Tresoldi C.
- Troya J.
- van de Beek D.
- Zatz M.
- Zawadzki P.
- Al-Muhsen S.Z.
- Alosaimi M.F.
- Alsohime F.M.
- Baris-Feldman H.
- Butte M.J.
- Constantinescu S.N.
- Cooper M.A.
- Dalgard C.L.
- Fellay J.
- Heath J.R.
- Lau Y.L.
- Lifton R.P.
- Maniatis T.
- Mogensen T.H.
- von Bernuth H.
- Lermine A.
- Vidaud M.
Genome Medicine - 1/12/2024
Corrigendum: PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports (Frontiers in Psychiatry, (2024), 14, (1327802), 10.3389/fpsyt.2023.1327802)
- Montanaro F.A.M.
- Mandarino A.
- Alesi V.
- Schwartz C.
- Sepulveda D.J.C.
- Skinner C.
- Friez M.
- Piccolo G.
- Novelli A.
- Zanni G.
- Dentici M.L.
- Vicari S.
- Alfieri P.
Frontiers in Psychiatry - 1/1/2024
Información de contacto
Correo electrónico: Antonio.Novelli@eurac.edu
Índice h
Scopus: 12
Web of Science: 12
Índice i10
Scopus: 15
Web of Science: 12
Perfiles de autor
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Proyectos de investigación en la UAL
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Acrónimo UAL2020-SEJ-D1931Desde: 1 de enero de 2021Hasta: 31 de diciembre de 2022Financiado por: Universidad de AlmeríaImporte de financiación: 30.000,00 EURRol: Equipo de trabajo