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

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder

一种进行性RBL2相关神经发育障碍的临床和遗传特征

Aughey, Gabriel N; Cali, Elisa; Maroofian, Reza; Zaki, Maha S; Pagnamenta, Alistair T; Ali, Zafar; Abdulllah, Uzma; Rahman, Fatima; Menzies, Lara; Shafique, Anum; Suri, Mohnish; Roze, Emmanuel; Aguennouz, Mohammed; Ghizlane, Zouiri; Saadi, Saadia Maryam; Fatima, Ambrin; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Morel, Godelieve; Robin, Stephanie; McFarland, Robert; Altunoglu, Umut; Kraus, Verena; Shoukier, Moneef; Murphy, David; Flemming, Kristina; Yttervik, Hilde; Rhouda, Hajar; Lesca, Gaetan; Chatron, Nicolas; Rossi, Massimiliano; Murtaza, Bibi Nazia; Ur Rehman, Mujaddad; Lord, Jenny; Giacopuzzi, Edoardo; Hayat, Azam; Siraj, Muhammad; Shervin Badv, Reza; Seo, Go Hun; Beetz, Christian; Kayserili, Hülya; Krioulie, Yamna; Chung, Wendy K; Naz, Sadaf; Maqbool, Shazia; Chandler, Kate E; Kershaw, Christopher J; Wright, Thomas; Banka, Siddharth; Gleeson, Joseph G; Taylor, Jenny C; Efthymiou, Stephanie; Baig, Shahid Mahmood; Severino, Mariasavina; Jepson, James E C; Houlden, Henry

EP267 Recovery After Hip Arthroscopy in Patients With Combined Femoroacetabular Impingement and Labral Tears Compared With Isolated Pathology

EP267 髋关节镜手术后合并股骨髋臼撞击和盂唇撕裂患者的恢复情况与单纯病变患者的比较

Cisternino, Francesco; Ometto, Sara; Chatterjee, Soumick; Giacopuzzi, Edoardo; Levine, Adam P; Glastonbury, Craig A; Shin, Won Chul; Do, Min Uk

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

翻译GTP酶GTPBP1和GTPBP2的双等位基因变异会导致一种独特的、相同的神经发育综合征。

Salpietro, Vincenzo; Maroofian, Reza; Zaki, Maha S; Wangen, Jamie; Ciolfi, Andrea; Barresi, Sabina; Efthymiou, Stephanie; Lamaze, Angelique; Aughey, Gabriel N; Al Mutairi, Fuad; Rad, Aboulfazl; Rocca, Clarissa; Calì, Elisa; Accogli, Andrea; Zara, Federico; Striano, Pasquale; Mojarrad, Majid; Tariq, Huma; Giacopuzzi, Edoardo; Taylor, Jenny C; Oprea, Gabriela; Skrahina, Volha; Rehman, Khalil Ur; Abd Elmaksoud, Marwa; Bassiony, Mahmoud; El Said, Huda G; Abdel-Hamid, Mohamed S; Al Shalan, Maha; Seo, Gohun; Kim, Sohyun; Lee, Hane; Khang, Rin; Issa, Mahmoud Y; Elbendary, Hasnaa M; Rafat, Karima; Marinakis, Nikolaos M; Traeger-Synodinos, Joanne; Ververi, Athina; Sourmpi, Mara; Eslahi, Atieh; Khadivi Zand, Farhad; Beiraghi Toosi, Mehran; Babaei, Meisam; Jackson, Adam; Bertoli-Avella, Aida; Pagnamenta, Alistair T; Niceta, Marcello; Battini, Roberta; Corsello, Antonio; Leoni, Chiara; Chiarelli, Francesco; Dallapiccola, Bruno; Faqeih, Eissa Ali; Tallur, Krishnaraya K; Alfadhel, Majid; Alobeid, Eman; Maddirevula, Sateesh; Mankad, Kshitij; Banka, Siddharth; Ghayoor-Karimiani, Ehsan; Tartaglia, Marco; Chung, Wendy K; Green, Rachel; Alkuraya, Fowzan S; Jepson, James E C; Houlden, Henry

FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6

FILIP1相关神经肌肉疾病和父系UPD6导致的表型混合

Watts, Laura M; Bunyan, David J; Giacopuzzi, Edoardo; Walker, Susan; Gazdagh, Gabriella; Thomas, N Simon; Straub, Volker; Childs, Anne-Marie; Forsyth, Joan; Vogt, Julie; Khan, Shagufta; Willis, Tracey A; Taylor, Jenny C; Pagnamenta, Alistair T

GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data

GREEN-DB:一个用于从全基因组测序数据中注释和优先排序非编码调控变异的框架

Giacopuzzi, Edoardo; Popitsch, Niko; Taylor, Jenny C

Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation

利用“十万基因组计划”的数据来解决对复发性TUBB2A突变的不同解读

Ragoussis, Vassilis; Pagnamenta, Alistair T; Haines, Rebecca L; Giacopuzzi, Edoardo; McClatchey, Martin A; Sampson, Julian R; Suri, Mohnish; Gardham, Alice; Cobben, Jan-Maarten; Osio, Deborah; Fry, Andrew E; Taylor, Jenny C

The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing

巴特-吉特尔曼谱系:50 年随访及全基因组测序后诊断修正

Stevenson, Mark; Pagnamenta, Alistair T; Mack, Heather G; Savige, Judith; Giacopuzzi, Edoardo; Lines, Kate E; Taylor, Jenny C; Thakker, Rajesh V

Estrogen-Like Effect of Mitotane Explained by Its Agonist Activity on Estrogen Receptor-α

米托坦的类雌激素效应可通过其对雌激素受体α的激动剂活性来解释。

Rossini, Elisa; Giacopuzzi, Edoardo; Gangemi, Fabrizio; Tamburello, Mariangela; Cosentini, Deborah; Abate, Andrea; Laganà, Marta; Berruti, Alfredo; Grisanti, Salvatore; Sigala, Sandra

Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders

社论:组学方法在遗传性神经系统疾病诊断中的应用

Legati, Andrea; Giacopuzzi, Edoardo; Spinazzi, Marco; Lek, Monkol

Treatment-Resistant Schizophrenia: Genetic and Neuroimaging Correlates

难治性精神分裂症:遗传和神经影像学相关性

Vita, Antonio; Minelli, Alessandra; Barlati, Stefano; Deste, Giacomo; Giacopuzzi, Edoardo; Valsecchi, Paolo; Turrina, Cesare; Gennarelli, Massimo