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

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder

DDX17基因的单等位基因新生突变会导致神经发育障碍

Seaby, Eleanor G; Godwin, Annie; Meyer-Dilhet, Géraldine; Clerc, Valentine; Grand, Xavier; Fletcher, Tia; Monteiro, Laloe; Kerkhofs, Martijn; Carelli, Valerio; Palombo, Flavia; Seri, Marco; Olivucci, Giulia; Grippa, Mina; Ciaccio, Claudia; D'Arrigo, Stefano; Iascone, Maria; Bermudez, Marion; Fischer, Jan; Di Donato, Nataliya; Goesswein, Sophie; Leung, Marco L; Koboldt, Daniel C; Myers, Cortlandt; Arnadottir, Gudny Anna; Stefansson, Kari; Sulem, Patrick; Goldberg, Ethan M; Bruel, Ange-Line; Tran-Mau-Them, Frederic; Willems, Marjolaine; Bjornsson, Hans Tomas; Hognason, Hakon Bjorn; Thorolfsdottir, Eirny Tholl; Agolini, Emanuele; Novelli, Antonio; Zampino, Giuseppe; Onesimo, Roberta; Lachlan, Katherine; Baralle, Diana; Rehm, Heidi L; O'Donnell-Luria, Anne; Courchet, Julien; Guille, Matt; Bourgeois, Cyril F; Ennis, Sarah

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

Hereditary Sensory and Autonomic Neuropathy Type 2: A Case Report and a Review of the Literature

遗传性感觉和自主神经病2型:病例报告及文献综述

Ragucci, Cosmanna; Furia, Alessandro; Palombo, Flavia; Giannoccaro, Maria Pia; Vacchiano, Veria; Incensi, Alex; Di Stasi, Vitantonio; Rizzo, Giovanni; Liguori, Rocco; Donadio, Vincenzo Angelo

Case Report: Novel ATP13A2 pathogenic variants associated with early-onset parkinsonism and a mini-review

病例报告:与早发性帕金森病相关的新型ATP13A2致病变异及简要综述

Affronte, Leonardo; Pini, Antonella; Pizzoli, Claudia; Coccia, Emanuele; Mazzone, Serena; Golemi, Arber; Giannotta, Melania; Cordelli, Duccio Maria; Carelli, Valerio; Vaisfeld, Alessandro; Palombo, Flavia

Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice

转录组分析在临床遗传学日常实践中的有效性和影响

Innella, Giovanni; Coccia, Emanuele; Cristalli, Carlotta Pia; Zacchi, Eliana; Calabrese, Sara; Bacchi, Isabelle; Palombo, Flavia; Taormina, Sara; Evangelisti, Cecilia; Lanzoni, Giulia; Carelli, Valerio; Diquigiovanni, Chiara; Ferrari, Simona; Panza, Emanuele; Rossi, Cesare; Vaisfeld, Alessandro; Bonora, Elena; Turchetti, Daniela

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy

SNF8基因的双等位基因变异会导致一系列疾病,从严重的脑发育和癫痫性脑病到综合征性视神经萎缩。

Brugger, Melanie; Lauri, Antonella; Zhen, Yan; Gramegna, Laura L; Zott, Benedikt; Sekulić, Nikolina; Fasano, Giulia; Kopajtich, Robert; Cordeddu, Viviana; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Paradisi, Graziamaria; Zanni, Ginevra; Vasco, Gessica; Carrozzo, Rosalba; Palombo, Flavia; Tonon, Caterina; Lodi, Raffaele; La Morgia, Chiara; Arelin, Maria; Blechschmidt, Cristiane; Finck, Tom; Sørensen, Vigdis; Kreiser, Kornelia; Strobl-Wildemann, Gertrud; Daum, Hagit; Michaelson-Cohen, Rachel; Ziccardi, Lucia; Zampino, Giuseppe; Prokisch, Holger; Abou Jamra, Rami; Fiorini, Claudio; Arzberger, Thomas; Winkelmann, Juliane; Caporali, Leonardo; Carelli, Valerio; Stenmark, Harald; Tartaglia, Marco; Wagner, Matias

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

The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10

意大利对遗传性视神经病变中最常见的基因缺陷进行了重新评估,并列出了全球前十名。

Fiorini, Claudio; Ormanbekova, Danara; Palombo, Flavia; Carbonelli, Michele; Amore, Giulia; Romagnoli, Martina; d'Agati, Pietro; Valentino, Maria Lucia; Barboni, Piero; Cascavilla, Maria Lucia; De Negri, Annamaria; Sadun, Federico; Carta, Arturo; Testa, Francesco; Petruzzella, Vittoria; Guerriero, Silvana; Bianchi Marzoli, Stefania; Carelli, Valerio; La Morgia, Chiara; Caporali, Leonardo

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup

对116例经系统性表型驱动诊断检查后病因不明的遗传性血小板减少症患者进行外显子组测序

Marconi, Caterina; Pecci, Alessandro; Palombo, Flavia; Melazzini, Federica; Bottega, Roberta; Nardi, Elena; Bozzi, Valeria; Faleschini, Michela; Barozzi, Serena; Giangregorio, Tania; Magini, Pamela; Balduini, Carlo L; Savoia, Anna; Seri, Marco; Noris, Patrizia; Pippucci, Tommaso

Expanding the Clinical Spectrum of UBTF-Related Neurodevelopmental Disorder

扩大UBTF相关神经发育障碍的临床谱

Pietra, Andrea; Palombo, Flavia; Giannotta, Melania; Maffei, Monica; Fiorini, Claudio; Costa, Roberta; Cenacchi, Giovanna; Carelli, Valerio; Cordelli, Duccio Maria; Pini, Antonella; Garone, Caterina