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

Clinical relevance of mosaic variants detected by exome sequencing

外显子组测序检测到的嵌合变异的临床意义

Ghosh, Rajarshi; Fazal, Zeeshan; Oler, Andrew J; Tokita, Mari J; Lewis, Katie L; Paul, Alexander J; Schmitz, Elizabeth G; Saucier, Nermina; Yan, Jia; Kamen, Michael; Seifert, Bryce A; Klion, Amy D; Khoury, Paneez; Delmonte, Ottavia M; Notarangelo, Luigi D; Freeman, Alexandra F; Zerbe, Christa S; Uzel, Gulbu; Metcalfe, Dean D; Komarow, Hirsh D; Carter, Melody C; McDermott, David H; Murphy, Philip M; Olivier, Kenneth N; Fuss, Ivan; Strober, Warren; Rao, V Koneti; Bergerson, Jenna R E; Almeida de Jesus, Adriana; Goldbach-Mansky, Raphaela; Al-Herz, Waleed; Holland, Steven M; Cooper, Megan A; Similuk, Morgan N; Walkiewicz, Magdalena A

Mucociliary and cough clearance in primary ciliary dyskinesia as affected by mutations in RSPH1 or DNAH5

RSPH1 或 DNAH5 基因突变影响原发性纤毛运动障碍的粘液纤毛清除和咳嗽功能

Ostrowski, Lawrence E; Abu-Nasser, Sara; Zeman, Kirby L; Leigh, Margaret W; Zariwala, Maimoona A; Olivier, Kenneth N; Ferkol, Thomas W; Taylor, Corinne N; Ceppe, Agathe S; Knowles, Michael R; Bennett, William D

STAT3-Dependent Regulation of CFTR and Ciliogenesis Is Essential for Mucociliary Clearance and Innate Airway Defense in Hyper-IgE Syndrome

STAT3依赖的CFTR和纤毛发生调控对于高IgE综合征中的黏液纤毛清除和先天性气道防御至关重要

Sun, Ling; Walls, Samantha A; Dang, Hong; Quinney, Nancy L; Sears, Patrick R; Sadritabrizi, Taraneh; Hasegawa, Koichi; Okuda, Kenichi; Asakura, Takanori; Chang, Xiuya; Zheng, Meiqi; Mikami, Yu; Dizmond, Felicia U; Danilova, Daniela; Zhou, Lynn; Deshmukh, Anshulika; Cholon, Deborah M; Radicioni, Giorgia; Rogers, Troy D; Kissner, William J; Markovetz, Matthew R; Guhr Lee, Tara N; Gutay, Mark I; Esther, Charles R Jr; Chua, Michael; Grubb, Barbara R; Ehre, Camille; Kesimer, Mehmet; Hill, David B; Ostrowski, Lawrence E; Button, Brian; Gentzsch, Martina; Robinson, Chevalia; Olivier, Kenneth N; Freeman, Alexandra F; Randell, Scott H; Vladar, Eszter; O'Neal, Wanda K; Boucher, Richard C; Chen, Gang

Clinical significance and antifungal susceptibility profile of 103 clinical isolates of Scedosporium species complex and Lomentospora prolificans obtained from NIH patients

从美国国立卫生研究院 (NIH) 患者中分离的 103 株 Scedosporium 属复合种和 Lomentospora prolificans 临床分离株的临床意义和抗真菌药物敏感性分析

Czech, Mary M; Cuellar-Rodriguez, Jennifer; Kwon-Chung, Kyung J; Stock, Frida; Aneke, Chioma I; Olivier, Kenneth N; Fennelly, Kevin P; Gea-Banacloche, Juan; Zerbe, Christa S; Freeman, Alexandra F; Holland, Steven M; Lionakis, Michail S; Seyedmousavi, Amir

ODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant in Quebec

ODAD4相关原发性纤毛运动障碍:魁北克省五例病例及一个创始变异体的报告

Bourassa, Marie-Hélène; Sillon, Guillaume; Ding, Shuizi; Chioccioli, Maurizio; Lek, Monkol; Ma, Kaiyue; Mejia-Garcia, Alejandro; Gravel, Simon; Vinh, Donald C; Knowles, Michael R; Leigh, Margaret W; Davis, Stephanie D; Ferkol, Thomas; Olivier, Kenneth N; Schecterman, Elizabeth N; Yin, Weining; Sears, Patrick R; Gentzsch, Martina; Boyles, Susan E; Bennett, William D; Zeman, Kirby L; Ostrowski, Lawrence E; Zariwala, Maimoona A; Shapiro, Adam J

Macrolide resistance in Mycobacterium abscessus: current insights and future perspectives

脓肿分枝杆菌对大环内酯类抗生素的耐药性:现状与展望

Nguyen, Victoria L; Eick, Kelly L; Gan, Mingyu; Miner, Taryn A; Friedland, Anne E; Carey, Allison F; Olivier, Kenneth N; Liu, Qingyun

Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome

原发性纤毛运动障碍或活化磷脂酰肌醇3-激酶δ综合征患者的重叠临床表型

Shapiro, Adam J; Wu, Eveline Y; Morris-Rosendahl, Deborah J; Olivier, Kenneth N; Dell, Sharon D; Sagel, Scott D; Dutmer, Cullen M; Mosquera, Ricardo A; Rose, Markus; O'Connor, Michael G; Ma, Chi A; Uzel, Gulbu; Vece, Timothy J; Zariwala, Maimoona A; Knowles, Michael R; Leigh, Margaret W; Davis, Stephanie D; Ferkol, Thomas W

Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia

启动子缺失导致原发性纤毛运动障碍病例中等位基因特异性表达,该病例的遗传病因尚未明确

Beaman, M Makenzie; Yin, Weining; Smith, Amanda J; Sears, Patrick R; Leigh, Margaret W; Ferkol, Thomas W; Kearney, Brendan; Olivier, Kenneth N; Kimple, Adam J; Clarke, Shannon; Huggins, Erin; Nading, Erica; Jung, Seung-Hye; Iyengar, Apoorva K; Zou, Xue; Dang, Hong; Barrera, Alejandro; Majoros, William H; Rehder, Catherine W; Reddy, Timothy E; Ostrowski, Lawrence E; Allen, Andrew S; Knowles, Michael R; Zariwala, Maimoona A; Crawford, Gregory E

Considerations in the Diagnosis and Management of Bronchiectasis in Older Adults

老年人支气管扩张症的诊断和治疗注意事项

Pollack, Lauren R; Goss, Christopher H; Olivier, Kenneth N

The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1

干扰素-γ在自身免疫性多内分泌综合征1型中的作用

Oikonomou, Vasileios; Smith, Grace; Constantine, Gregory M; Schmitt, Monica M; Ferré, Elise M N; Alejo, Julie C; Riley, Deanna; Kumar, Dhaneshwar; Dos Santos Dias, Lucas; Pechacek, Joseph; Hadjiyannis, Yannis; Webb, Taura; Seifert, Bryce A; Ghosh, Rajarshi; Walkiewicz, Magdalena; Martin, Daniel; Besnard, Marine; Snarr, Brendan D; Deljookorani, Shiva; Lee, Chyi-Chia R; DiMaggio, Tom; Barber, Princess; Rosen, Lindsey B; Cheng, Aristine; Rastegar, Andre; de Jesus, Adriana A; Stoddard, Jennifer; Kuehn, Hye Sun; Break, Timothy J; Kong, Heidi H; Castelo-Soccio, Leslie; Colton, Ben; Warner, Blake M; Kleiner, David E; Quezado, Martha M; Davis, Jeremy L; Fennelly, Kevin P; Olivier, Kenneth N; Rosenzweig, Sergio D; Suffredini, Anthony F; Anderson, Mark S; Swidergall, Marc; Guillonneau, Carole; Notarangelo, Luigi D; Goldbach-Mansky, Raphaela; Neth, Olaf; Monserrat-Garcia, Maria Teresa; Valverde-Fernandez, Justo; Lucena, Jose Manuel; Gomez-Gila, Ana Lucia; Garcia Rojas, Angela; Seppänen, Mikko R J; Lohi, Jouko; Hero, Matti; Laakso, Saila; Klemetti, Paula; Lundberg, Vanja; Ekwall, Olov; Olbrich, Peter; Winer, Karen K; Afzali, Behdad; Moutsopoulos, Niki M; Holland, Steven M; Heller, Theo; Pittaluga, Stefania; Lionakis, Michail S