日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome

DNA甲基化表观遗传特征作为Diamond-Blackfan贫血综合征的新型诊断工具

Quarello, Paola; Karimi, Karim; Trajkova, Slavica; Garelli, Emanuela; Samadieh, Mehdi; Iovino, Emanuela; Pippucci, Tommaso; Papagni, Giovanni; Dalfonso, Sandra; Corrado, Lucia; Rizzo, Serena; Carando, Adriana; Kerkhof, Jennifer; Rzasa, Jessica; McConkey, Haley; Levy, Michael; Zecca, Marco; Fioredda, Francesca; Barone, Angelica; Cesaro, Simone; Gabelli, Maria; Torchio, Francesca; Zucchetti, Giulia; Cantarini, Maria Elena; Corti, Paola; Ramenghi, Ugo; Locatelli, Franco; Fagioli, Franca; Sadikovic, Bekim; Brusco, Alfredo

Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.

BRF2 的双等位基因变异与围产期死亡和颅面畸形有关

Mattioli Francesca, Friðriksdóttir Rún, Hebert Anne, Bassani Sissy, Ibrahim Nazia, Naz Shagufta, Chrast Jacqueline, Pailler-Pradeau Clara, Oddsson Ásmundur, Sulem Patrick, Halldorsson Gisli H, Melsted Páll, Guðbjartsson Daníel F, Palombo Flavia, Pippucci Tommaso, Nouri Nayereh, Seri Marco, Farrow Emily G, Saunders Carol J, Guex Nicolas, Ansar Muhammad, Stefansson Kari, Reymond Alexandre

Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease

外显子组测序揭示了家族性晚发性阿尔茨海默病中GRIN2C基因的罕见致病变异

Rubino, Elisa; Italia, Maria; Giorgio, Elisa; Boschi, Silvia; Dimartino, Paola; Pippucci, Tommaso; Roveta, Fausto; Cambria, Clara Maria; Elia, Gabriella; Marcinnò, Andrea; Gallone, Salvatore; Rogaeva, Ekaterina; Antonucci, Flavia; Brusco, Alfredo; Gardoni, Fabrizio; Rainero, Innocenzo

Expanding the Clinical Spectrum of SPG26: A Case Report and Review of B4GALNT1-Associated Hereditary Spastic Paraplegia

拓展SPG26的临床谱:B4GALNT1相关遗传性痉挛性截瘫病例报告及综述

Giacomozzi, Sebastiano; Bonan, Luigi; La Morgia, Chiara; Carbonelli, Michele; Santucci, Margherita; Isidori, Federica; Pippucci, Tommaso; Liguori, Rocco; Rizzo, Giovanni

SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability

SRPK3 对人类和斑马鱼的认知和视觉发育至关重要,这解释了 X 连锁智力障碍。

Roychaudhury, Arkaprava; Lee, Yu-Ri; Choi, Tae-Ik; Thomas, Mervyn G; Khan, Tahir N; Yousaf, Hammad; Skinner, Cindy; Maconachie, Gail; Crosier, Moira; Horak, Holli; Constantinescu, Cris S; Kim, Tae-Yoon; Lee, Kang-Han; Kyung, Jae-Jun; Wang, Tao; Ku, Bonsu; Chodirker, Bernard N; Hammer, Michael F; Gottlob, Irene; Norton, William H J; Gerlai, Robert; Kim, Hyung-Goo; Graziano, Claudio; Pippucci, Tommaso; Iovino, Emanuela; Montanari, Francesca; Severi, Giulia; Toro, Camilo; Boerkoel, Cornelius F; Cha, Hyo Sun; Choi, Cheol Yong; Kim, Sungjin; Yoon, Je-Hyun; Gilmore, Kelly; Vora, Neeta L; Davis, Erica E; Chudley, Albert E; Schwartz, Charles E; Kim, Cheol-Hee

Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data

二代和三代测序数据中种系变异和DNA甲基化分析的最佳实践

Bonfiglio, Ferdinando; Legati, Andrea; Lasorsa, Vito Alessandro; Palombo, Flavia; De Riso, Giulia; Isidori, Federica; Russo, Silvia; Furini, Simone; Merla, Giuseppe; Coppedè, Fabio; Tartaglia, Marco; Bruselles, Alessandro; Pippucci, Tommaso; Ciolfi, Andrea; Pinelli, Michele; Capasso, Mario

COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction

COQ7 缺陷导致胎儿时期出现线粒体 CoQ10 缺乏症,引发心肌病和胃肠道阻塞

Ilaria Pettenuzzo #, Sara Carli #, Ana Sánchez-Cuesta, Federica Isidori, Francesca Montanari, Mina Grippa, Giulia Lanzoni, Irene Ambrosetti, Veronica Di Pisa, Duccio Maria Cordelli, Maria Cristina Mondardini, Tommaso Pippucci, Luca Ragni, Giovanna Cenacchi, Roberta Costa, Mario Lima, Maria Antoniett

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity

对神经发育障碍患者进行DNA甲基化分析,可以提高变异解读的准确性并揭示其复杂性。

Trajkova, Slavica; Kerkhof, Jennifer; Rossi Sebastiano, Matteo; Pavinato, Lisa; Ferrero, Enza; Giovenino, Chiara; Carli, Diana; Di Gregorio, Eleonora; Marinoni, Roberta; Mandrile, Giorgia; Palermo, Flavia; Carestiato, Silvia; Cardaropoli, Simona; Pullano, Verdiana; Rinninella, Antonina; Giorgio, Elisa; Pippucci, Tommaso; Dimartino, Paola; Rzasa, Jessica; Rooney, Kathleen; McConkey, Haley; Petlichkovski, Aleksandar; Pasini, Barbara; Sukarova-Angelovska, Elena; Campbell, Christopher M; Metcalfe, Kay; Jenkinson, Sarah; Banka, Siddharth; Mussa, Alessandro; Ferrero, Giovanni Battista; Sadikovic, Bekim; Brusco, Alfredo

Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children

帕利斯特-基利安综合征患儿的脑结构异常:一项对31名患儿的神经影像学研究

Fetta, Anna; Toni, Francesco; Pettenuzzo, Ilaria; Ricci, Emilia; Rocca, Alessandro; Gambi, Caterina; Soliani, Luca; Di Pisa, Veronica; Martini, Silvia; Sperti, Giacomo; Cagnazzo, Valeria; Accorsi, Patrizia; Bartolini, Emanuele; Battaglia, Domenica; Bernardo, Pia; Canevini, Maria Paola; Ferrari, Anna Rita; Giordano, Lucio; Locatelli, Chiara; Mancardi, Margherita; Orsini, Alessandro; Pippucci, Tommaso; Pruna, Dario; Rosati, Anna; Suppiej, Agnese; Tagliani, Sara; Vaisfeld, Alessandro; Vignoli, Aglaia; Izumi, Kosuke; Krantz, Ian; Cordelli, Duccio Maria

Long read sequencing on its way to the routine diagnostics of genetic diseases

长读长测序正逐步应用于遗传疾病的常规诊断。

Olivucci, Giulia; Iovino, Emanuela; Innella, Giovanni; Turchetti, Daniela; Pippucci, Tommaso; Magini, Pamela