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V

Vito Luigi Colona

Policlin Tor Vergata
H指数:19
被引数:1,225

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Clinical and Molecular Delineation of KAT6B-Related Disorders: Novel Variants and Refined Genotype–Phenotype Correlations

KAT6B相关疾病的临床与分子特征解析：新发变异与基因型-表型关联的精细化

Human Mutation
IF3.7
2026-09-250
OAAI
Vito Luigi Colona; Maria Gnazzo; Annalidia Donato; Lavinia Fioretti; Alessandra Terracciano; Delia Monopoli; Paola Sabrina Buonuomo; Michaela Veronika Gonfiantini; Donatella Lettori; Roberta Taurisano; Tommaso Mazza; Daniela Concolino; Mafalda Mucciolo; Marina Macchiaiolo; Antonio Novelli; Davide Vecchio
A de novo KCNA3 and an inherited KCNQ3 missense variant causing a developmental and epileptic encephalopathy, intellectual disability, and behavioral anomalies

新生KCNA3基因和遗传性KCNQ3基因错义变异导致发育性癫痫性脑病、智力障碍和行为异常

Neurogenetics
IF1.2
2026-01-300
PRE
Marchionni, Enrica; Colona, Vito Luigi; Agolini, Emanuele; Murdocca, Michela; Russo, Monia; Stellato, Maria; Latini, Valeria; Campione, Elena; Nardone, Anna Maria; Spitalieri, Paola; Mazzone, Luigi; Novelli, Antonio; Sangiuolo, Federica; Novelli, Giuseppe
Spinocerebellar ataxia, autosomal recessive type 23 (SCAR23) with compound TDP2 variants: clinical, molecular, and quantitative follow-up

脊髓小脑共济失调，常染色体隐性23型（SCAR23）合并复合TDP2变异：临床、分子及定量随访

Neurological Sciences
IF2.4
2025-12-290
PRE
Vito Luigi Colona; Viola Ceccatelli; Alessandra Terracciano; Francesca Piceci Sparascio; Susanna Summa; Francesco Nicita; Jacopo Sartorelli; Martina Favetta; Chiara Lullo; Luca De Palma; Antonio Novelli; Enrico Bertini; Gessica Vasco
Modelling severe COVID-19 in TLR3-mutated hiPSCs-derived lung organoids

在TLR3突变的hiPSCs来源的肺类器官中模拟重症COVID-19

Cell Death Discovery
IF7
2025-12-260
OAAI
Andrea Latini; Paola Spitalieri; Federica Centofanti; Barbara Rizzacasa; Donatella Amatore; Giorgia Grilli; Riccardo De Santis; Lorenzo Vaccaro; Vito Luigi Colona; Giulio Puleri; Anna Maria Nardone; Michela Biancolella; Elena Campione; Loredana Sarmati; Paola Rogliani; Davide Cacchiarelli; Antonio Novelli; Federica Sangiuolo; Florigio Lista; Giuseppe Novelli
Infantile-Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24-25 Deletion: Expanding the Genotypic Spectrum

婴儿期发病的进行性遗传性痉挛性截瘫，由纯合子ALS2外显子24-25缺失引起：扩展基因型谱

American Journal of Medical Genetics Part A
IF1.7
2025-11-010
OAAI
Colona, Vito Luigi; Gnazzo, Maria; Genovese, Silvia; Vasco, Gessica; Travaglini, Lorena; Sabbadini, Maurizio; Macchiaiolo, Marina; Nicita, Francesco; Sartorelli, Jacopo; Piscopo, Carmelo; Castelli, Enrico; Bertini, Enrico; Bartuli, Andrea; Novelli, Antonio; Bella, Gessica Della; Vecchio, Davide
Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement

细胞基因组学和光学基因组图谱方法表征了一种由于母源复杂同源染色体重组导致的衍生性间质性18p单体。

MOLECULAR CYTOGENETICS
IF1.4
2025-10-140
OAAI
Graziani, Ludovico; Genovese, Silvia; Genovesi, Maria Luce; Di Rosa, Cristiana; Di Noi, Rosalba; Loddo, Sara; Bengala, Mario; Colona, Vito Luigi; Novelli, Antonio; Novelli, Giuseppe; Alesi, Viola; Nardone, Anna Maria
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-06-013
PRE
Dentici, Maria Lisa; Niceta, Marcello; Lepri, Francesca Romana; Mancini, Cecilia; Priolo, Manuela; Bonnard, Adeline Alice; Cappelletti, Camilla; Leoni, Chiara; Ciolfi, Andrea; Pizzi, Simone; Cordeddu, Viviana; Rossi, Cesare; Ferilli, Marco; Mucciolo, Mafalda; Colona, Vito Luigi; Fauth, Christine; Bellini, Melissa; Biasucci, Giacomo; Sinibaldi, Lorenzo; Briuglia, Silvana; Gazzin, Andrea; Carli, Diana; Memo, Luigi; Trevisson, Eva; Schiavariello, Concetta; Luca, Maria; Novelli, Antonio; Michot, Caroline; Sweertvaegher, Anne; Germanaud, David; Scarano, Emanuela; De Luca, Alessandro; Zampino, Giuseppe; Zenker, Martin; Mussa, Alessandro; Dallapiccola, Bruno; Cave, Helene; Digilio, Maria Cristina; Tartaglia, Marco
COVID-19 annual update: a narrative review

新型冠状病毒肺炎年度更新: 叙述性回顾

HUMAN GENOMICS
IF4.3
2023-07-2420
OAAI
Biancolella, Michela; Colona, Vito Luigi; Luzzatto, Lucio; Watt, Jessica Lee; Mattiuz, Giorgio; Conticello, Silvestro G.; Kaminski, Naftali; Mehrian-Shai, Ruty; Ko, Albert I.; Gonsalves, Gregg S.; Vasiliou, Vasilis; Novelli, Giuseppe; Reichardt, Juergen K. V.
Inhibition of HECT E3 ligases as potential therapy for COVID-19
CELL DEATH & DISEASE
IF9.6
2021-03-2438
OAAI
Novelli, Giuseppe; Liu, Jing; Biancolella, Michela; Alonzi, Tonino; Novelli, Antonio; Patten, J. J.; Cocciadiferro, Dario; Agolini, Emanuele; Colona, Vito Luigi; Rizzacasa, Barbara; Giannini, Rosalinda; Bigio, Benedetta; Goletti, Delia; Capobianchi, Maria Rosaria; Grelli, Sandro; Mann, Justin; McKee, Trevor D.; Cheng, Ke; Amanat, Fatima; Krammer, Florian; Guarracino, Andrea; Pepe, Gerardo; Tomino, Carlo; Tandjaoui-Lambiotte, Yacine; Uzunhan, Yurdagul; Tubiana, Sarah; Ghosn, Jade; Notarangelo, Luigi D.; Su, Helen C.; Abel, Laurent; Cobat, Aurelie; Elhanan, Gai; Grzymski, Joseph J.; Latini, Andrea; Sidhu, Sachdev S.; Jain, Suresh; Davey, Robert A.; Casanova, Jean-Laurent; Wei, Wenyi; Pandolfi, Pier Paolo

研究方向

暂未获取到该数据
G
Giuseppe Novelli
H 指数:81论文数:1,027被引数:3.8万
G
Giulia Di Lazzaro
H 指数:24论文数:102被引数:2,702
T
Tommaso Schirinzi
H 指数:36论文数:231被引数:4,646
N
Nicola Biagio Mercuri
H 指数:79论文数:788被引数:2.6万
M
Michela Biancolella
H 指数:21论文数:59被引数:1,832
A
Antonio Pisani
H 指数:66论文数:415被引数:1.5万
A
Antonio Novelli
H 指数:51论文数:565被引数:1.5万
G
Giulia Maria Sancesario
H 指数:33论文数:130被引数:3,289
J
Juergen Reichardt
H 指数:49论文数:247被引数:9,889
J
Jessica Watt
H 指数:4论文数:8被引数:273