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

Extended clinical phenotypes and long-term outcomes of phosphoglucomutase-3 deficiency

磷酸葡萄糖变位酶-3缺乏症的扩展临床表型和长期预后

Wang, Chen; Patel, Meera; Urban, Amanda; Nelson, Celeste G; DiMaggio, Thomas; Heller, Theo; Cowen, Edward W; Kong, Heidi H; Kenney, Heather A; Santangeli, Enrico; Wang, Yanhan; Toribio-Dionicio, Crhistian; Akar-Ghibril, Nicole; Adeli, Mehdi; Gonzalez, Corina E; Holland, Steven M; Notarangelo, Luigi D; Milner, Joshua D; Lyons, Jonathan J; Freeman, Alexandra F

Successful Treatment of Refractory Cutaneous Protothecosis With MAT2203, an Oral Lipid Nanocrystal Formulation of Amphotericin B

使用口服脂质纳米晶体制剂MAT2203成功治疗难治性皮肤原藻病(两性霉素B)

Pechacek, Joseph; Schmitt, Monica M; Ferrè, Elise M N; Webb, Taura; Goldberg, Joel; Pathan, Sabina; Banerjee, Camellia; Barber, Princess; DiMaggio, Thomas; Quinn, Anne; Matkovits, Theresa; Castelo-Soccio, Leslie; Nussenblatt, Veronique; Lionakis, Michail S

Genetically defined individual reference ranges for tryptase limit unnecessary procedures and unmask myeloid neoplasms

基因定义的类胰蛋白酶个体参考范围可以减少不必要的手术,并揭示髓系肿瘤。

Chovanec, Jack; Tunc, Ilker; Hughes, Jason; Halstead, Joseph; Mateja, Allyson; Liu, Yihui; O'Connell, Michael P; Kim, Jiwon; Park, Young Hwan; Wang, Qinlu; Le, Quang; Pirooznia, Mehdi; Trivedi, Neil N; Bai, Yun; Yin, Yuzhi; Hsu, Amy P; McElwee, Joshua; Lassiter, Sheryce; Nelson, Celeste; Bandoh, Judy; DiMaggio, Thomas; Šelb, Julij; Rijavec, Matija; Carter, Melody C; Komarow, Hirsh D; Sabato, Vito; Steinberg, Joshua; Hafer, Kurt M; Feuille, Elizabeth; Hourigan, Christopher S; Lack, Justin; Khoury, Paneez; Maric, Irina; Zanotti, Roberta; Bonadonna, Patrizia; Schwartz, Lawrence B; Milner, Joshua D; Glover, Sarah C; Ebo, Didier G; Korošec, Peter; Caughey, George H; Brittain, Erica H; Busby, Ben; Metcalfe, Dean D; Lyons, Jonathan J

Successful Treatment of Paecilomyces variotii Pneumonia and Lupus Nephritis With Posaconazole-Cyclophosphamide Co-administration Without Drug Interaction-Induced Toxicity

泊沙康唑-环磷酰胺联合用药成功治疗变异拟青霉菌肺炎和狼疮性肾炎,未发生药物相互作用引起的毒性

Pechacek, Joseph; Webb, Taura; Ferré, Elise M N; Schmitt, Monica M; DiMaggio, Thomas; Kobrin, Dale; Rajasimhan, Suraj; Colton, Ben; Lewis, Russell E; Andes, David; Herrera, Alejandro; Hammoud, Dima; Seyedmousavi, Seyedmojtaba; Hasni, Sarfaraz; Bolaños, Jonathan; Afzali, Behdad; Lionakis, Michail S

Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations

对1000个具有复杂免疫表型的家庭进行临床外显子组测序:迈向全面的基因组评估

Similuk, Morgan N; Yan, Jia; Ghosh, Rajarshi; Oler, Andrew J; Franco, Luis M; Setzer, Michael R; Kamen, Michael; Jodarski, Colleen; DiMaggio, Thomas; Davis, Joie; Gore, Rachel; Jamal, Leila; Borges, Adrienne; Gentile, Nicole; Niemela, Julie; Lowe, Chenery; Jevtich, Kathleen; Yu, Yunting; Hullfish, Haley; Hsu, Amy P; Hong, Celine; Littel, Patricia; Seifert, Bryce A; Milner, Joshua; Johnston, Jennifer J; Cheng, Xi; Li, Zhiwen; Veltri, Daniel; Huang, Ke; Kaladi, Krishnaveni; Barnett, Jason; Zhang, Lingwen; Vlasenko, Nikita; Fan, Yongjie; Karlins, Eric; Ganakammal, Satishkumar Ranganathan; Gilmore, Robert; Tran, Emily; Yun, Alvin; Mackey, Joseph; Yazhuk, Svetlana; Lack, Justin; Kuram, Vasudev; Cao, Wenjia; Huse, Susan; Frank, Karen; Fahle, Gary; Rosenzweig, Sergio; Su, Yan; Hwang, SuJin; Bi, Weimin; Bennett, John; Myles, Ian A; De Ravin, Suk See; Fuss, Ivan; Strober, Warren; Bielekova, Bibiana; Almeida de Jesus, Adriana; Goldbach-Mansky, Raphaela; Williamson, Peter; Kumar, Kelly; Dempsy, Caeden; Frischmeyer-Guerrerio, Pamela; Fisch, Robin; Bolan, Hyejeong; Metcalfe, Dean D; Komarow, Hirsh; Carter, Melody; Druey, Kirk M; Sereti, Irini; Dropulic, Lesia; Klion, Amy D; Khoury, Paneez; O' Connell, Elise M; Holland-Thomas, Nicole C; Brown, Thomas; McDermott, David H; Murphy, Philip M; Bundy, Vanessa; Keller, Michael D; Peng, Christine; Kim, Helen; Norman, Stephanie; Delmonte, Ottavia M; Kang, Elizabeth; Su, Helen C; Malech, Harry; Freeman, Alexandra; Zerbe, Christa; Uzel, Gulbu; Bergerson, Jenna R E; Rao, V Koneti; Olivier, Kenneth N; Lyons, Jonathan J; Lisco, Andrea; Cohen, Jeffrey I; Lionakis, Michail S; Biesecker, Leslie G; Xirasagar, Sandhya; Notarangelo, Luigi D; Holland, Steven M; Walkiewicz, Magdalena A

Hereditary alpha-tryptasemia modifies clinical phenotypes among individuals with congenital hypermobility disorders

遗传性α-胰蛋白酶血症会改变先天性关节过度活动症患者的临床表型

Vazquez, Maribel; Chovanec, Jack; Kim, Jiwon; DiMaggio, Thomas; Milner, Joshua D; Francomano, Clair A; Gurnett, Christina A; Ritelli, Marco; Colombi, Marina; Lyons, Jonathan J

Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry

利用凝集素流式细胞术检测磷酸葡萄糖变位酶-3缺乏症

Carlson, Ryan J; Bond, Michelle R; Hutchins, Shermaine; Brown, Yishai; Wolfe, Lynne A; Lam, Christina; Nelson, Celeste; DiMaggio, Thomas; Jones, Nina; Rosenzweig, Sergio D; Stone, Kelly D; Freeman, Alexandra F; Holland, Steven M; Hanover, John A; Milner, Joshua D; Lyons, Jonathan J

Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number

基础血清类胰蛋白酶水平升高提示存在一种与TPSAB1拷贝数增加相关的多系统疾病

Lyons, Jonathan J; Yu, Xiaomin; Hughes, Jason D; Le, Quang T; Jamil, Ali; Bai, Yun; Ho, Nancy; Zhao, Ming; Liu, Yihui; O'Connell, Michael P; Trivedi, Neil N; Nelson, Celeste; DiMaggio, Thomas; Jones, Nina; Matthews, Helen; Lewis, Katie L; Oler, Andrew J; Carlson, Ryan J; Arkwright, Peter D; Hong, Celine; Agama, Sherene; Wilson, Todd M; Tucker, Sofie; Zhang, Yu; McElwee, Joshua J; Pao, Maryland; Glover, Sarah C; Rothenberg, Marc E; Hohman, Robert J; Stone, Kelly D; Caughey, George H; Heller, Theo; Metcalfe, Dean D; Biesecker, Leslie G; Schwartz, Lawrence B; Milner, Joshua D

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

常染色体隐性磷酸葡萄糖变位酶3 (PGM3) 基因突变将糖基化缺陷与特应性疾病、免疫缺陷、自身免疫性疾病和神经认知障碍联系起来。

Zhang, Yu; Yu, Xiaomin; Ichikawa, Mie; Lyons, Jonathan J; Datta, Shrimati; Lamborn, Ian T; Jing, Huie; Kim, Emily S; Biancalana, Matthew; Wolfe, Lynne A; DiMaggio, Thomas; Matthews, Helen F; Kranick, Sarah M; Stone, Kelly D; Holland, Steven M; Reich, Daniel S; Hughes, Jason D; Mehmet, Huseyin; McElwee, Joshua; Freeman, Alexandra F; Freeze, Hudson H; Su, Helen C; Milner, Joshua D

B-cell activating factor (BAFF) is elevated in chronic granulomatous disease.

慢性肉芽肿病中 B 细胞活化因子 (BAFF) 水平升高

Matharu Kabir, Zarember Kol A, Marciano Beatriz E, Kuhns Douglas B, Spalding Christine, Garofalo Mary, Dimaggio Thomas, Estwick Tyra, Huang Chiung-Yu, Fink Danielle, Priel Debra L, Fleisher Thomas A, Holland Steven M, Malech Harry L, Gallin John I