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

Targeted deep sequencing identifies mosaicism in patients with immune dysregulation

靶向深度测序可识别免疫失调患者的嵌合现象

Schmitz, Elizabeth G; Paul, Alexander J; Ghosh, Rajarshi; Saucier, Nermina; Kolicheski, Ana; Risma, Samuel I; McDaniels, Kristen P; Liu, Michelle; Lewis, Katie L; de Jesus, Adriana A; Alehashemi, Sara; Fronick, Catrina C; Stein, David; Dominguez, Daniela; Hiraki, Linda T; Lee, Jessica H; Norman, Stephanie; Peng, Christine R; Ward, Brant R; Pettiford, Leah H; Platt, Anna; Lawrence, Monica G; Rocco, Joseph M; Al-Herz, Waleed; Zerbe, Christa S; Atkinson, T Prescott; Peng, Xiao P; Allenspach, Eric J; Hoytema van Konijnenburg, David P; Platt, Craig D; Elkins, Megan; Walter, Jolan E; Bleesing, Jack J; Klion, Amy; Ramaswami, Ramya; Uzel, Gulbu; Lionakis, Michail S; Dissanayake, Dilan; Su, Helen C; Cortese, Irene; Fuss, Ivan J; Bergerson, Jenna R E; Dropulic, Lesia; Sereti, Irini; Lisco, Andrea; Itan, Yuval; Milner, Joshua D; Bogunovic, Dusan; Goldbach-Mansky, Raphaela; Rao, V Koneti; Delmonte, Ottavia M; Notarangelo, Luigi D; Keller, Michael D; Durkee-Shock, Jessica; Cohen, Jeffrey I; Similuk, Morgan N; Holland, Steven M; Griffith, Malachi; Griffith, Obi L; Vogel, Tiphanie P; Canna, Scott; Freeman, Alexandra F; Walkiewicz, Magdalena A; Cooper, Megan A

Biomarker-Specific Test-Retest Repeatabilities of Microperimetry in Neovascular Age-Related Macular Degeneration

新生血管性年龄相关性黄斑变性微视野检查的生物标志物特异性重测重复性

Hinterhuber, Laetitia; Birner, Klaudia; Schrittwieser, Johannes; Coulibaly, Leonard M; Fuchs, Philipp; Schürer-Waldheim, Simon; Gumpinger, Markus; Bogunovic, Hrvoje; Schmidt-Erfurth, Ursula; Reiter, Gregor S

Artificial Intelligence-based characterization of therapeutic response in fluid types and volumes influencing retinal function in neovascular age-related macular degeneration

基于人工智能的液体类型和容量对新生血管性年龄相关性黄斑变性视网膜功能影响的治疗反应特征分析

Frank-Publig, Sophie; Buehl, Wolf; Mares, Virginia; Fuchs, Philipp; Coulibaly, Leonard M; Eidenberger, Anna; Scheschy, Ulrike; Faustmann, Georg; Gumpinger, Markus; Sükei, Emese; Bogunovic, Hrvoje; Reiter, Gregor S; Sacu, Stefan; Schmidt-Erfurth, Ursula

Cytokine-Driven Janus Kinase Signal Transducer and Activator of Transcription Pathway Hyperactivity Predicts Disease Severity in Pediatric FSGS

细胞因子驱动的 Janus 激酶信号转导和转录激活因子通路过度活跃可预测儿童局灶节段性肾小球硬化症的疾病严重程度。

Shen, Carol L; Richardson, Ashley; Martin-Fernandez, Marta; Malle, Louise; Buta, Sofija; Patel, Aum; Rosberger, Haylen; Lim, Jean; Horesh, Michael; Saland, Jeffrey; Bogunovic, Dusan

Markers of immune dysregulation in pediatric patients with severe bronchiolitis

儿童重症毛细支气管炎患者免疫失调的标志物

Hickey, Katherine; Gruber, Conor; Buta-Panov, Sofija; Lee, Jo Hsuan; Stoffels, Guillaume; Gangadharan, Sandeep; Vicencio, Alfin; Bogunovic, Dusan

Human TBK1 deficiency: An expanded spectrum from autoinflammation to viral encephalitis

人类TBK1缺乏症:从自身炎症到病毒性脑炎的疾病谱扩大

Akalu, Yemsratch; Taft, Justin; Berger, Thomas; Rostásy, Kevin; Dafsari, Hormos S; Schönrade, Helena; Cüceoğlu, Müşerref Kasap; Özen, Seza; Faye, Albert; Melki, Isabelle; Dobroz, Imen; Boespflug-Tanguy, Odile; Kiykim, Ayça; Sahin, Sezgin; Tahir Turanli, Eda; Akca, Ümmüşen Kaya; van Laar, Jan A M; van Pelt, Philomine A; Hollink, Iris H I M; Pimpale Chavan, Pallavi; Khubchandani, Raju; Aksentijevich, Ivona; Bogunovic, Dusan

Human ISG15 deficiency unveils impaired healing of ulcerations via type I interferon-mediated fibrosis.

人类 ISG15 缺乏症揭示了 I 型干扰素介导的纤维化导致溃疡愈合受损。

Sazeides Christos, Cuollo Lorenzo, Sidhu Ikjot, Randolph Haley E, Martin-Fernandez Marta, Buta Sofija, Stewart O' Jay, Geltman Rachel, Adalsteinsson Jonas A, Phelps Robert G, Horowitz Amir, Stein David, Youssef Mariam, Martinez-Muniz Andres, Hernandez Michelle, Lionakis Michail S, Boneparth Alexis, Milner Joshua D, Naik Shruti, Bogunovic Dusan

Monoallelic expression can govern penetrance of inborn errors of immunity

单等位基因表达可以控制先天性免疫缺陷的穿透率

Stewart, O'Jay; Gruber, Conor; Randolph, Haley E; Patel, Roosheel; Ramba, Meredith; Calzoni, Enrica; Huang, Lei Haley; Levy, Jay; Buta, Sofija; Lee, Angelica; Sazeides, Christos; Prue, Zoe; Hoytema van Konijnenburg, David P; Chinn, Ivan K; Pedroza, Luis A; Lupski, James R; Schmitt, Erica G; Cooper, Megan A; Puel, Anne; Peng, Xiao; Boisson-Dupuis, Stéphanie; Bustamante, Jacinta; Okada, Satoshi; Martin-Fernandez, Marta; Orange, Jordan S; Casanova, Jean-Laurent; Milner, Joshua D; Bogunovic, Dusan

Scalable generation and functional classification of genetic variants in inborn errors of immunity to accelerate clinical diagnosis and treatment

可扩展地生成和对先天性免疫缺陷基因变异进行功能分类,以加速临床诊断和治疗。

Zachary H Walsh,Chris J Frangieh,Neeharika Kothapalli,Jay Levy,Clarissa K Heck,Johannes C Melms,Ron S Gejman,Parin Shah,Jared M Pollard,Akul Naik,Sarah L Grauman,Lei Haley Huang,Ashley Lee,Dusan Bogunovic,Joshua D Milner,Benjamin Izar

Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.

对人类 RAG 缺陷的多组学分析揭示了独特的免疫失调模式,但具有共同的炎症特征。

Bosticardo Marita, Dobbs Kerry, Delmonte Ottavia M, Martins Andrew J, Pala Francesca, Kawai Tomoki, Kenney Heather, Magro Gloria, Rosen Lindsey B, Yamazaki Yasuhiro, Yu Hsin-Hui, Calzoni Enrica, Lee Yu Nee, Liu Can, Stoddard Jennifer, Niemela Julie, Fink Danielle, Castagnoli Riccardo, Ramba Meredith, Cheng Aristine, Riley Deanna, Oikonomou Vasileios, Shaw Elana, Belaid Brahim, Keles Sevgi, Al-Herz Waleed, Cancrini Caterina, Cifaldi Cristina, Baris Safa, Sharapova Svetlana, Schuetz Catharina, Gennery Andrew R, Freeman Alexandra F, Somech Raz, Choo Sharon, Giliani Silvia C, Güngör Tayfun, Drozdov Daniel, Meyts Isabelle, Moshous Despina, Neven Benedicte, Abraham Roshini S, El-Marsafy Aisha, Kanariou Maria, King Alejandra, Licciardi Francesco, Cruz-Muñoz Mario E, Palma Paolo, Poli Cecilia, Adeli Mehdi, Algeri Mattia, Alroqi Fayhan J, Bastard Paul, Bergerson Jenna R E, Booth Claire, Brett Ana, Burns Siobhan O, Butte Manish J, Padem Nurcicek, de la Morena M, Dbaibo Ghassan, de Ravin Suk See, Dimitrova Dimana, Djidjik Reda, Dorna Mayra B, Dutmer Cullen M, Elfeky Reem, Facchetti Fabio, Fuleihan Ramsay L, Geha Raif S, Gonzalez-Granado Luis I, Haljasmägi Liis, Ale Hanadys, Hayward Anthony, Hifanova Anna M, Ip Winnie, Kaplan Blanka, Kapoor Neena, Karakoc-Aydiner Elif, Kärner Jaanika, Keller Michael D, Dávila Saldaña Blachy J, Kiykim Ayça, Kuijpers Taco W, Kuznetsova Elena E, Latysheva Elena A, Leiding Jennifer W, Locatelli Franco, Alva-Lozada Guisela, McCusker Christine, Celmeli Fatih, Morsheimer Megan, Ozen Ahmet, Parvaneh Nima, Pasic Srdjan, Plebani Alessandro, Preece Kahn, Prockop Susan, Sakovich Inga S, Starkova Elena E, Torgerson Troy, Verbsky James, Walter Jolan E, Ward Brant, Wisner Elizabeth L, Draper Deborah, Myint-Hpu Katherine, Truong Pooi M, Lionakis Michail S, Similuk Morgan B, Walkiewicz Magdalena A, Klion Amy, Holland Steven M, Oguz Cihan, Bogunovic Dusan, Kisand Kai, Su Helen C, Tsang John S, Kuhns Douglas, Villa Anna, Rosenzweig Sergio D, Pittaluga Stefania, Notarangelo Luigi D