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

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort

缩小诊断差距:外显子组阴性智力障碍队列的基因组、表观遗传特征、长读长测序和卫生经济学分析

Dias, Kerith-Rae; Shrestha, Rupendra; Schofield, Deborah; Evans, Carey-Anne; O'Heir, Emily; Zhu, Ying; Zhang, Futao; Standen, Krystle; Weisburd, Ben; Stenton, Sarah L; Sanchis-Juan, Alba; Brand, Harrison; Talkowski, Michael E; Ma, Alan; Ghedia, Sondy; Wilson, Meredith; Sandaradura, Sarah A; Smith, Janine; Kamien, Benjamin; Turner, Anne; Bakshi, Madhura; Adès, Lesley C; Mowat, David; Regan, Matthew; McGillivray, George; Savarirayan, Ravi; White, Susan M; Tan, Tiong Yang; Stark, Zornitza; Brown, Natasha J; Pérez-Jurado, Luis A; Krzesinski, Emma; Hunter, Matthew F; Akesson, Lauren; Fennell, Andrew Paul; Yeung, Alison; Boughtwood, Tiffany; Ewans, Lisa J; Kerkhof, Jennifer; Lucas, Christopher; Carey, Louise; French, Hugh; Rapadas, Melissa; Stevanovski, Igor; Deveson, Ira W; Cliffe, Corrina; Elakis, George; Kirk, Edwin P; Dudding-Byth, Tracy; Fletcher, Janice; Walsh, Rebecca; Corbett, Mark A; Kroes, Thessa; Gecz, Jozef; Meldrum, Cliff; Cliffe, Simon; Wall, Meg; Lunke, Sebastian; North, Kathryn; Amor, David J; Field, Michael; Sadikovic, Bekim; Buckley, Michael F; O'Donnell-Luria, Anne; Roscioli, Tony

Cutaneous manifestations and treatment of arsenic toxicity: A systematic review

砷中毒的皮肤表现及治疗:系统评价

Tang, Gia Toan; Elakis, Joshua; Scardamaglia, Laura

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

孟德尔遗传病的全外显子组和全基因组测序:诊断和卫生经济学分析

Ewans, Lisa J; Minoche, Andre E; Schofield, Deborah; Shrestha, Rupendra; Puttick, Clare; Zhu, Ying; Drew, Alexander; Gayevskiy, Velimir; Elakis, George; Walsh, Corrina; Adès, Lesley C; Colley, Alison; Ellaway, Carolyn; Evans, Carey-Anne; Freckmann, Mary-Louise; Goodwin, Linda; Hackett, Anna; Kamien, Benjamin; Kirk, Edwin P; Lipke, Michelle; Mowat, David; Palmer, Elizabeth; Rajagopalan, Sulekha; Ronan, Anne; Sachdev, Rani; Stevenson, William; Turner, Anne; Wilson, Meredith; Worgan, Lisa; Morel-Kopp, Marie-Christine; Field, Michael; Buckley, Michael F; Cowley, Mark J; Dinger, Marcel E; Roscioli, Tony

Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency

人类 ZNFX1 缺乏症可导致多系统炎症和病毒感染易感性

Vavassori, Stefano; Chou, Janet; Faletti, Laura Eva; Haunerdinger, Veronika; Opitz, Lennart; Joset, Pascal; Fraser, Christopher J; Prader, Seraina; Gao, Xianfei; Schuch, Luise A; Wagner, Matias; Hoefele, Julia; Maccari, Maria Elena; Zhu, Ying; Elakis, George; Gabbett, Michael T; Forstner, Maria; Omran, Heymut; Kaiser, Thomas; Kessler, Christina; Olbrich, Heike; Frosk, Patrick; Almutairi, Abduarahman; Platt, Craig D; Elkins, Megan; Weeks, Sabrina; Rubin, Tamar; Planas, Raquel; Marchetti, Tommaso; Koovely, Danil; Klämbt, Verena; Soliman, Neveen A; von Hardenberg, Sandra; Klemann, Christian; Baumann, Ulrich; Lenz, Dominic; Klein-Franke, Andreas; Schwemmle, Martin; Huber, Michael; Sturm, Ekkehard; Hartleif, Steffen; Häffner, Karsten; Gimpel, Charlotte; Brotschi, Barbara; Laube, Guido; Güngör, Tayfun; Buckley, Michael F; Kottke, Raimund; Staufner, Christian; Hildebrandt, Friedhelm; Reu-Hofer, Simone; Moll, Solange; Weber, Achim; Kaur, Hundeep; Ehl, Stephan; Hiller, Sebastian; Geha, Raif; Roscioli, Tony; Griese, Matthias; Pachlopnik Schmid, Jana

Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness

将外显子组测序整合到癫痫性脑病诊断流程中:临床实用性和成本效益的证据

Palmer, Elizabeth E; Schofield, Deborah; Shrestha, Rupendra; Kandula, Tejaswi; Macintosh, Rebecca; Lawson, John A; Andrews, Ian; Sampaio, Hugo; Johnson, Alexandra M; Farrar, Michelle A; Cardamone, Michael; Mowat, David; Elakis, George; Lo, William; Zhu, Ying; Ying, Kevin; Morris, Paula; Tao, Jiang; Dias, Kerith-Rae; Buckley, Michael; Dinger, Marcel E; Cowley, Mark J; Roscioli, Tony; Kirk, Edwin P; Bye, Ann; Sachdev, Rani K

Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy

ARV1神经元缺陷会导致常染色体隐性遗传性癫痫性脑病。

Palmer, Elizabeth E; Jarrett, Kelsey E; Sachdev, Rani K; Al Zahrani, Fatema; Hashem, Mais Omar; Ibrahim, Niema; Sampaio, Hugo; Kandula, Tejaswi; Macintosh, Rebecca; Gupta, Rajat; Conlon, Donna M; Billheimer, Jeffrey T; Rader, Daniel J; Funato, Kouichi; Walkey, Christopher J; Lee, Chang Seok; Loo, Christine; Brammah, Susan; Elakis, George; Zhu, Ying; Buckley, Michael; Kirk, Edwin P; Bye, Ann; Alkuraya, Fowzan S; Roscioli, Tony; Lagor, William R