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F

Francesco Calı̀

oasi research institute irccs
H指数:26
被引数:4,443

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A De Novo USP24 Variant as a Candidate Driver in a Neurodevelopmental Disorder: Insights from Trio-Based Whole-Exome Sequencing

一种从头发现的USP24变异体作为神经发育障碍的候选驱动基因：来自基于家系的全外显子组测序的见解

International Journal of Molecular Sciences
IF4.9
2026-05-020
OA
Mirella Vinci; Antonino Musumeci; Simone Treccarichi; Miriam Virgillito; Siria Calì; Angelo Gloria; Concetta Federico; Salvatore Saccone; Maurizio Elia; Francesco Calì
Dissecting genetic variant contributions to neurodegenerative disorders through targeted gene sequencing in a Sicilian population

通过靶向基因测序分析西西里人群中神经退行性疾病的遗传变异贡献

Scientific Reports
IF3.9
2026-04-090
OAAI
Simone Treccarichi; Carla Papa; Mirella Vinci; Filomena Irene Ilaria Cosentino; Guido Scalia; Giovanni Mostile; Mario Zappia; Alessandra Nicoletti; Manuela Pennisi; Antonino Musumeci; Valeria Chiavetta; Vincenzo Di Stefano; Tommaso Piccoli; Valeria Blandino; Mariangela Tripodi; Bartolo Lanuzza; Manuela Morreale; Chiara Cupidi; Raffaele Ferri; Giuseppe Lanza; Francesco Cali
Unraveling the Genetic and Molecular Architecture of Autism Spectrum Disorder: Implications for Clinical Genetics and Genomic Diagnostics

解析自闭症谱系障碍的遗传与分子架构：对临床遗传学和基因组诊断的意义

International Journal of Molecular Sciences
IF4.9
2026-04-040
OAAI
Simone Treccarichi; Mirella Vinci; Miriam Virgillito; Antonino Musumeci; Francesca Bruno; Carla Papa; Rosanna Galati Rando; Pietro Marano; Donatella Greco; Antonio Fallea; Desiree Brancato; Siria Calì; Gresheen Garcia; Concetta Federico; Salvatore Saccone; Francesco Calì
Identification of human D lactate dehydrogenase deficiency

人D-乳酸脱氢酶缺乏症的鉴定

NATURE COMMUNICATIONS
IF15.7
2019-04-0160
OAAI
Monroe, Glen R.; van Eerde, Albertien M.; Tessadori, Federico; Duran, Karen J.; Savelberg, Sanne M. C.; van Alfen, Johanna C.; Terhal, Paulien A.; van der Crabben, Saskia N.; Lichtenbelt, Klaske D.; Fuchs, Sabine A.; Gerrits, Johan; van Roosmalen, Markus J.; van Gassen, Koen L.; van Aalderen, Mirjam; Koot, Bart G.; Oostendorp, Marlies; Duran, Marinus; Visser, Gepke; de Koning, Tom J.; Cali, Francesco; Bosco, Paolo; Geleijns, Karin; de Sain-van der Velden, Monique G. M.; Knoers, Nine, V; Bakkers, Jeroen; Verhoeven-Duif, Nanda M.; van Haaften, Gijs; Jans, Judith J.

研究方向

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M
Mirella Vinci
H 指数:13论文数:77被引数:1,263
S
Simone Treccarichi
H 指数:11论文数:63被引数:433
A
Antonino Musumeci
H 指数:12论文数:77被引数:560
S
Salvatore Saccone
H 指数:39论文数:211被引数:5,135
C
Concetta Federico
H 指数:32论文数:136被引数:2,353
V
Valentino Romano
H 指数:32论文数:114被引数:5,269
M
Maurizio Elia
H 指数:58论文数:435被引数:1.2万
P
Paolo Bosco
H 指数:49论文数:259被引数:2.1万
V
Valeria Chiavetta
H 指数:10论文数:30被引数:254
A
Alda Ragalmuto
H 指数:7论文数:31被引数:261