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M

Marianthi Karali

universita della campania vanvitelli
H指数:24
被引数:2,019

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Biallelic RDH11 variants cause syndromic retinitis pigmentosa with early-onset cataracts and neurodevelopmental delay: a multicenter case series

双等位基因RDH11变异导致伴有早期发病白内障和神经发育迟滞的综合征性色素视网膜炎：一项多中心病例系列研究

European Journal of Human Genetics
IF4.6
2026-09-160
OA
Marianthi Karali; Susanne Kohl; Francesco Testa; Eleanor Hay; Yasas D. Kolambage; German Demidov; Tobias Haack; Hamid Ghaedi; Siying Lin; Gemma Natale; Vindya Subasinghe; Pyara Rathnayake; Sarah Wörz; Gavin Arno; Rebecca Buchert; Katarina Stingl; Francesca Simonelli; Sandro Banfi
Voretigene Neparvovec Gene Therapy in Clinical Practice: A 12-Month, Single-Center, In-Depth Analysis of Beneficial and Adverse Drug Effects

沃特吉根内帕沃塞基因疗法在临床实践中的应用：一项为期12个月、单中心、深入分析其有益及不良反应的药物效应研究

Translational Vision Science & Technology
IF2.6
2026-05-010
PRE
Testa, Francesco; Di Iorio, Valentina; Melillo, Paolo; Karali, Marianthi; Iodice, Clemente Maria; Danila, Pisani; Iovino, Claudio; Banfi, Sandro; Rossi, Settimio; Della Corte, Michele; Simonelli, Francesca
RetiGene, a comprehensive gene atlas for inherited retinal diseases

RetiGene，一种全面的遗传性视网膜疾病基因图谱

american journal of human genetics
IF0
2025-09-160
OAAI
Carlo Rivolta; Elifnaz Celik; Dhryata Kamdar; Francesca Cancellieri; Karolina Kaminska; Mukhtar Ullah; Pilar Barberán-Martínez; Manon Bouckaert; Marta Cortón; Emma Delanote; Lidia Fernández-Caballero; Gema García García; Lara K. Holtes; Marianthi Karali; Irma Lopez; Virginie G. Peter; Nina Schneider; Lieselot Vincke; Carmen Ayuso; Sandro Banfi; Beatrice Bocquet; Frauke Coppieters; Frans P.M. Cremers; Chris F. Inglehearn; Takeshi Iwata; Vasiliki Kalatzis; Robert K. Koenekoop; José M. Millán; Dror Sharon; Carmel Toomes; Mathieu Quinodoz
Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies

靶向长读长cDNA测序揭示导致视网膜变性的新型剪接改变致病变异

HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2025-07-010
OAAI
Capasso, Dalila; Zeuli, Roberta; Arno, Gavin; Kwint, Michael; Timmermans, Raoul; Ruiz-Ceja, Karla A.; Karali, Marianthi; Signorini, Sabrina; Valente, Enza Maria; Cremers, Frans P. M.; Banfi, Sandro; Roosing, Susanne; Panneman, Daan M.; de Bruijn, Suzanne E.
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-12-131
OAAI
Karali, Marianthi; Garcia-Garcia, Gema; Kaminska, Karolina; Altalbishi, Alaa; Cancellieri, Francesca; Testa, Francesco; Barillari, Maria Rosaria; Panagiotou, Evangelia S.; Psillas, George; Vaclavik, Veronika; Tran, Viet H.; Janeschitz-Kriegl, Lucas; Scholl, Hendrik P. N.; Salameh, Manar; Barberan-Martinez, Pilar; Rodriguez-Munoz, Ana; Armengot, Miguel; Scarpato, Margherita; Zeuli, Roberta; Quinodoz, Mathieu; Simonelli, Francesca; Rivolta, Carlo; Banfi, Sandro; Millan, Jose M.
Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
IF4.7
2024-06-172
OAAI
Testa, Francesco; Carreno, Ester; van den Born, L. Ingeborgh; Melillo, Paolo; Perea-Romero, Irene; Di Iorio, Valentina; Risca, Giulia; Iodice, Clemente Maria; Pennings, Ronald J. E.; Karali, Marianthi; Banfi, Sandro; Auricchio, Alberto; Galimberti, Stefania; Ayuso, Carmen; Simonelli, Francesca
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy

在意大利的一个中心进行的大型患者队列中遗传性视网膜疾病的遗传流行病学

SCIENTIFIC REPORTS
IF3.9
2022-12-0239
OAAI
Karali, Marianthi; Testa, Francesco; Di Iorio, Valentina; Torella, Annalaura; Zeuli, Roberta; Scarpato, Margherita; Romano, Francesca; Onore, Maria Elena; Pizzo, Mariateresa; Melillo, Paolo; Brunetti-Pierri, Raffaella; Passerini, Ilaria; Pelo, Elisabetta; Cremers, Frans P. M.; Esposito, Gabriella; Nigro, Vincenzo; Simonelli, Francesca; Banfi, Sandro
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
IF4.7
2022-02-0712
OAAI
Testa, Francesco; Murro, Vittoria; Signorini, Sabrina; Colombo, Leonardo; Iarossi, Giancarlo; Parmeggiani, Francesco; Falsini, Benedetto; Salvetti, Anna Paola; Brunetti-Pierri, Raffaella; Aprile, Giorgia; Bertone, Chiara; Suppiej, Agnese; Romano, Francesco; Karali, Marianthi; Donati, Simone; Melillo, Paolo; Sodi, Andrea; Quaranta, Luciano; Rossetti, Luca; Buzzonetti, Luca; Chizzolini, Marzio; Rizzo, Stanislao; Staurenghi, Giovanni; Banfi, Sandro; Azzolini, Claudio; Simonelli, Francesca
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

通过整合基因组学和转录组学解决1054 Stargardt病先证者的ABCA4暗物质

GENETICS IN MEDICINE
IF6.2
2020-07-0197
OAAI
Khan, Mubeen; Cornelis, Stephanie S.; Del Pozo-Valero, Marta; Whelan, Laura; Runhart, Esmee H.; Mishra, Ketan; Bults, Femke; AlSwaiti, Yahya; AlTalbishi, Alaa; De Baere, Elfride; Banfi, Sandro; Banin, Eyal; Bauwens, Miriam; Ben-Yosef, Tamar; Boon, Camiel J. F.; van den Born, L. Ingeborgh; Defoort, Sabine; Devos, Aurore; Dockery, Adrian; Dudakova, Lubica; Fakin, Ana; Farrar, G. Jane; Sallum, Juliana Maria Ferraz; Fujinami, Kaoru; Gilissen, Christian; Glavac, Damjan; Gorin, Michael B.; Greenberg, Jacquie; Hayashi, Takaaki; Hettinga, Ymkje M.; Hoischen, Alexander; Hoyng, Carel B.; Hufendiek, Karsten; Jaegle, Herbert; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C. W.; Kousal, Bohdan; Lamey, Tina M.; MacDonald, Ian M.; Matynia, Anna; McLaren, Terri L.; Mena, Marcela D.; Meunier, Isabelle; Miller, Rianne; Newman, Hadas; Ntozini, Buhle; Oldak, Monika; Pieterse, Marc; Podhajcer, Osvaldo L.; Puech, Bernard; Ramesar, Raj; Ruether, Klaus; Salameh, Manar; Salles, Mariana Vallim; Sharon, Dror; Simonelli, Francesca; Spital, Georg; Steehouwer, Marloes; Szaflik, Jacek P.; Thompson, Jennifer A.; Thuillier, Caroline; Tracewska, Anna M.; van Zweeden, Martine; Vincent, Andrea L.; Zanlonghi, Xavier; Liskova, Petra; Stoehr, Heidi; Roach, John N. De; Ayuso, Carmen; Roberts, Lisa; Weber, Bernhard H. F.; Dhaenens, Claire-Marie; Cremers, Frans P. M.
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

RAX2的双等位基因序列和结构变异是常染色体隐性遗传性视网膜疾病的新原因

GENETICS IN MEDICINE
IF6.2
2019-06-0115
OAAI
Van de Sompele, Stijn; Smith, Claire; Karali, Marianthi; Corton, Marta; Van Schil, Kristof; Peelman, Frank; Cherry, Timothy; Rosseel, Toon; Verdin, Hannah; Derolez, Julien; Van Laethem, Thalia; Khan, Kamron N.; McKibbin, Martin; Toomes, Carmel; Ali, Manir; Torella, Annalaura; Testa, Francesco; Jimenez, Belen; Simonelli, Francesca; De Zaeytijd, Julie; Van den Ende, Jenneke; Leroy, Bart P.; Coppieters, Frauke; Ayuso, Carmen; Inglehearn, Chris F.; Banfi, Sandro; De Baere, Elfride
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease (vol 21, pg 1319, 2019)
GENETICS IN MEDICINE
IF6.2
2019-04-010
OAAI
Van de Sompele, Stijn; Smith, Claire; Karali, Marianthi; Corton, Marta; Van Schil, Kristof; Peelman, Frank; Cherry, Timothy; Rosseel, Toon; Verdin, Hannah; Derolez, Julien; Van Laethem, Thalia; Khan, Kamron N.; McKibbin, Martin; Toomes, Carmel; Ali, Manir; Torella, Annalaura; Testa, Francesco; Jimenez, Belen; Simonelli, Francesca; De Zaeytijd, Julie; Van den Ende, Jenneke; Leroy, Bart P.; Coppieters, Frauke; Ayuso, Carmen; Inglehearn, Chris F.; Banfi, Sandro; De Baere, Elfride

研究方向

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S
Sandro Banfi
H 指数:59论文数:260被引数:1.8万
F
Francesco Testa
H 指数:38论文数:187被引数:7,537
F
Francesca Simonelli
H 指数:47论文数:336被引数:1.4万
M
Mariateresa Pizzo
H 指数:16论文数:47被引数:1,003
P
Paolo Melillo
H 指数:32论文数:143被引数:4,299
A
Annamaria Carissimo
H 指数:28论文数:112被引数:3,342
V
Valentina Di Iorio
H 指数:21论文数:80被引数:1,237
R
Raffaella Brunetti‐Pierri
H 指数:12论文数:34被引数:401
C
Carmen Ayuso
H 指数:68论文数:604被引数:1.8万
R
Roberta Zeuli
H 指数:7论文数:16被引数:250