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Novelli, Antonio Autor

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.
... Ver más Contraer

EUROPEAN JOURNAL OF HUMAN GENETICS - 1/7/2024

10.1038/s41431-024-01597-9

Número de citas: 1 (Scopus)
  • Factor Impacto JCR: 4,6 (2024)
  • CiteScore: 9,9 (2023)
  • SJR: 1,538 (2023)
  • SNIP: 1,474 (2023)
  • Impacto JCR a 5 años: 4,8
  • Categorías JCR: GENETICS & HEREDITY
Open Access

De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting

  • Berti B.
  • Verrigni D.
  • Nasca A.
  • Di Nottia M.
  • Leone D.
  • Torraco A.
  • Rizza T.
  • Bellacchio E.
  • Legati A.
  • Palermo C.
  • Marchet S.
  • Lamperti C.
  • Novelli A.
  • Mercuri E.M.
  • Bertini E.S.
  • Pane M.
  • Ghezzi D.
  • Carrozzo R.
... Ver más Contraer

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES - 1/7/2024

10.3390/ijms25147782

Número de citas: 0 (Scopus)
  • Factor Impacto JCR: 4,9 (2024)
  • CiteScore: 8,1 (2023)
  • SJR: 1,179 (2023)
  • SNIP: 1,12 (2023)
  • Impacto JCR a 5 años: 5,7
  • Categorías JCR: CHEMISTRY, MULTIDISCIPLINARY

Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant

  • Gnazzo M.
  • Pascolini G.
  • Parlapiano G.
  • Petrizzelli F.
  • Perrino D.
  • Porco L.
  • Bartuli A.
  • Novelli A.
  • Baban A.
... Ver más Contraer

CLINICAL GENETICS - 1/7/2024

10.1111/cge.14531

Número de citas: 0 (Scopus)
  • Factor Impacto JCR: 2,3 (2024)
  • CiteScore: 6,5 (2023)
  • SJR: 1,236 (2023)
  • SNIP: 1,245 (2023)
  • Impacto JCR a 5 años: 3,2
  • Categorías JCR: GENETICS & HEREDITY
Open Access

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.
... Ver más Contraer

AMERICAN JOURNAL OF MEDICAL GENETICS PART A - 1/7/2024

10.1002/ajmg.a.63580

Número de citas: 1 (Scopus)
  • Factor Impacto JCR: 1,7 (2024)
  • CiteScore: 3,5 (2023)
  • SJR: 0,718 (2023)
  • SNIP: 0,868 (2023)
  • Impacto JCR a 5 años: 2
  • Categorías JCR: GENETICS & HEREDITY

Partial atrioventricular canal defect and aortic coarctation associated with variants in GDF1 and NOTCH1 genes: A case report

  • Putotto C.
  • Masci M.
  • Magliozzi M.
  • Novelli A.
  • Marino B.
  • Digilio M.C.
  • Toscano A.
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Birth Defects Research - 1/7/2024

10.1002/bdr2.2382

Número de citas: 0 (Scopus)
  • Factor Impacto JCR: 1,6 (2024)
  • Impacto JCR a 5 años: 2,4
  • Categorías JCR: DEVELOPMENTAL BIOLOGY
Open Access

A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism

  • Lombardo A.
  • Sinibaldi L.
  • Genovese S.
  • Catino G.
  • Mei V.
  • Pompili D.
  • Sallicandro E.
  • Falasca R.
  • Liambo M.T.
  • Faggiano M.V.
  • Roberti M.C.
  • Di Donato M.
  • Vitelli A.
  • Russo S.
  • Giannini R.
  • Micalizzi A.
  • Pietrafusa N.
  • Digilio M.C.
  • Novelli A.
  • Fusco L.
  • Alesi V.
... Ver más Contraer

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES - 1/7/2024

10.3390/ijms25136912

Número de citas: 0 (Scopus)
  • Factor Impacto JCR: 4,9 (2024)
  • CiteScore: 8,1 (2023)
  • SJR: 1,179 (2023)
  • SNIP: 1,12 (2023)
  • Impacto JCR a 5 años: 5,7
  • Categorías JCR: CHEMISTRY, MULTIDISCIPLINARY
Open Access

Novel Genetic Variant in HUWE1: Prenatal and Postnatal Neuroimaging Phenotype

  • Tortora M.
  • Cattaneo E.
  • Spaccini L.
  • Iascone M.
  • Scelsa B.
  • Micalizzi A.
  • Novelli A.
  • Lanna M.
  • Righini A.
  • Veggiotti P.
  • Doneda C.
... Ver más Contraer

Neurology: Genetics - 13/6/2024

10.1212/nxg.0000000000200169

Número de citas: 1 (Scopus)
Open Access

Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients

  • Diociaiuti A.
  • Corbeddu M.
  • Rossi S.
  • Pisaneschi E.
  • Cesario C.
  • Condorelli A.G.
  • Samela T.
  • Giancristoforo S.
  • Angioni A.
  • Zambruno G.
  • Novelli A.
  • Alaggio R.
  • Abeni D.
  • Hachem M.E.
... Ver más Contraer

DERMATOLOGY - 1/6/2024

10.1159/000536366

Número de citas: 2 (Scopus)
  • Factor Impacto JCR: 2,7 (2024)
  • CiteScore: 6,4 (2023)
  • SJR: 1,288 (2023)
  • SNIP: 1,443 (2023)
  • Impacto JCR a 5 años: 3,5
  • Categorías JCR: DERMATOLOGY
Open Access

A De Novo CaSR Missense Variant in Combination with Two Inherited Missense Variants in CFTR and SPINK1 Detected in a Patient with Chronic Pancreatitis

  • Bontempo P.
  • Surace C.
  • Menale L.
  • Alicata C.
  • D’Elia G.
  • Tomaiuolo A.C.
  • Minervino D.
  • Lorefice E.
  • Novelli A.
... Ver más Contraer

Biomedicines - 1/6/2024

10.3390/biomedicines12061278

Número de citas: 0 (Scopus)
  • Factor Impacto JCR: 3,9 (2024)
  • Impacto JCR a 5 años: 4,2
  • Categorías JCR: BIOCHEMISTRY & MOLECULAR BIOLOGY
Open Access

A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease

  • Graziani L.
  • Minotti C.
  • Carriero M.L.
  • Bengala M.
  • Lai S.
  • Terracciano A.
  • Novelli A.
  • Novelli G.
... Ver más Contraer

Genes - 1/5/2024

10.3390/genes15050597

Número de citas: 0 (Scopus)
  • Factor Impacto JCR: 2,8 (2024)
  • Impacto JCR a 5 años: 3,2
  • Categorías JCR: GENETICS & HEREDITY

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

Número de citas: 0 (Scopus)
Open Access

The map-making and data filtering pipeline for the MISTRAL receiver

  • Barbavara E.
  • Battistelli E.S.
  • de Bernardis P.
  • Cacciotti F.
  • Capalbo V.
  • Carbone A.
  • Carretti E.
  • Ciccalotti D.
  • Columbro F.
  • Coppolecchia A.
  • Cruciani A.
  • D'Alessandro G.
  • De Petris M.
  • Govoni F.
  • Isopi G.
  • Lamagna L.
  • Marongiu P.
  • Mascia A.
  • Masi S.
  • Molinari E.
  • Murgia M.
  • Navarrini A.
  • Novelli A.
  • Occhiuzzi A.
  • Orlati A.
  • Paiella A.
  • Pettinari G.
  • Piacentini F.
  • Pisanu T.
  • Poppi S.
  • Porceddu I.
  • Ritacco A.
  • Schirru R.
  • Vargiu G.
... Ver más Contraer

Proceedings of SPIE - The International Society for Optical Engineering - 1/1/2024

10.1117/12.3019685

Número de citas: 0 (Scopus)
  • CiteScore: 0,5 (2023)
  • SJR: 0,152 (2023)
  • SNIP: 0,202 (2023)

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

10.3390/ecsa-7-08274

  • ORCID

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

10.1007/978-3-319-59480-4_5

Número de citas: 1 (Scopus)
  • Cuartil SJR: Q3
  • CiteScore: 1,2 (2024)
  • SJR: 0,156 (2018)
  • SNIP: 0,347 (2018)
  • Categorías SJR: Computer Science (miscellaneous) (Q3); Decision Sciences (miscellaneous) (Q4)

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

10.1007/978-3-319-59480-4_4

Número de citas: 17 (Scopus)
  • Cuartil SJR: Q3
  • CiteScore: 1,2 (2024)
  • SJR: 0,156 (2018)
  • SNIP: 0,347 (2018)
  • Categorías SJR: Computer Science (miscellaneous) (Q3); Decision Sciences (miscellaneous) (Q4)
Open Access

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

COMPUTATIONAL SCIENCE AND ITS APPLICATIONS - ICCSA 2018, PT V - 1/1/2018

10.1007/978-3-319-95174-4_28

Número de citas: 1 (Web of Science) 1 (Scopus)
  • CiteScore: 1,8 (2020)
  • SJR: 0,283 (2018)
  • SNIP: 0,707 (2018)
Open Access

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.

COMPUTATIONAL SCIENCE AND ITS APPLICATIONS - ICCSA 2017, PT IV - 1/1/2017

10.1007/978-3-319-62401-3_3

Número de citas: 9 (Web of Science) 7 (Scopus)
  • CiteScore: 1,8 (2020)
  • SJR: 0,295 (2017)
  • SNIP: 0,673 (2017)
Open Access

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.

COMPUTATIONAL SCIENCE AND ITS APPLICATIONS - ICCSA 2017, PT IV - 1/1/2017

10.1007/978-3-319-62401-3_4

Número de citas: 2 (Web of Science) 3 (Scopus)
  • Impacto Normalizado por Categoría: 0,294 (2017)
  • CiteScore: 2,4 (2024)
  • SJR: 0,295 (2017)
  • SNIP: 0,686 (2017)
Open Access

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.

COMPUTATIONAL SCIENCE AND ITS APPLICATIONS - ICCSA 2017, PT IV - 1/1/2017

10.1007/978-3-319-62401-3_2

Número de citas: 4 (Web of Science) 3 (Scopus)
  • CiteScore: 1,8 (2020)
  • SJR: 0,295 (2017)
  • SNIP: 0,673 (2017)
Open Access

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.

FOURTH INTERNATIONAL CONFERENCE ON REMOTE SENSING AND GEOINFORMATION OF THE ENVIRONMENT (RSCY2016) - 1/1/2016

10.1117/12.2240733

Número de citas: 1 (Web of Science) 1 (Scopus)
  • 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
Open Access

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.

COMPUTATIONAL SCIENCE AND ITS APPLICATIONS - ICCSA 2016, PT II - 1/1/2016

10.1007/978-3-319-42108-7_32

Número de citas: 16 (Web of Science) 16 (Scopus)
  • CiteScore: 1,8 (2020)
  • SJR: 0,339 (2016)
  • SNIP: 0,676 (2016)

Este autor no tiene patentes.

Open Access

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.
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Genome Medicine - 1/12/2024

10.1186/s13073-023-01278-0

Número de citas: 0 (Scopus)
  • Factor Impacto JCR: 11,2 (2024)
  • Impacto JCR a 5 años: 13,8
  • Categorías JCR: GENETICS & HEREDITY
Open Access

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.
... Ver más Contraer

Frontiers in Psychiatry - 1/1/2024

10.3389/fpsyt.2024.1375954

Número de citas: 0 (Scopus)
  • Factor Impacto JCR: 3,2 (2024)
  • Impacto JCR a 5 años: 4
  • Categorías JCR: PSYCHIATRY

Scopus: 14

Web of Science: 13

Scopus: 17

Web of Science: 14

Última actualización de los datos: 16/08/25 10:17
Próxima recolección programada: 23/08/25 3:00