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

Systematic functional validation of IKAROS variants from patients and laboratory-generated mutations

对来自患者和实验室生成的突变体的 IKAROS 变异体进行系统性功能验证

Kuehn, Hye Sun; Gil Silva, Agustin A; Klangkalya, Natchanun; Esteve-Sole, Ana; Goel, Shubham; Niemela, Julie E; Stoddard, Jennifer L; Chong, Hey; Williams, Kelli; Ip, Winnie; Framil Seoane, Mario; Loganathan, Sathish Kumar; Anantharachagan, Ariharan; García-Soidán, Ana; Shaffren, Serena; Bindernagel, Constance; Mendez, Philip; Miller, Rahim Z; Abolhassani, Hassan; Hoytema van Konijnenburg, David P; Geerlinks, Ashley V; Cabanillas, Diana; Zonneveld-Huijssoon, Evelien; Rutgers, Abraham; Tangye, Stuart; Ma, Cindy; Grey, Alice; O'Young, Patrick; Aldave Becerra, Juan Carlos; Lyons, Jonathan J; White, Andrew A; Claiborne, Michael; Doroudchi, Mohammad-Ali; Modena, Brian D; Milner, Joshua D; Solanich, Xavier; Farela Neves, João; Platt, Craig D; Hammarström, Lennart; Routes, John M; Verbsky, James; Butte, Manish J; Lesmana, Harry; Griffiths, William J H; Kumararatne, Dinakantha; Hauck, Fabian; Allende, Luis M; Rodríguez-Gallego, Carlos; Elfeky, Reem; Rubin, Tamar; Boztug, Kaan; Fleisher, Thomas A; Rosenzweig, Sergio D

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

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

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

利用基因组测序扩大新生儿筛查范围,以便及早发现可干预的疾病

Ziegler, Alban; Koval-Burt, Carrie; Kay, Denise M; Suchy, Sharon F; Begtrup, Amber; Langley, Katherine G; Hernan, Rebecca; Amendola, Laura M; Boyd, Brenna M; Bradley, Jennifer; Brandt, Tracy; Cohen, Lilian L; Coffey, Alison J; Devaney, Joseph M; Dygulska, Beata; Friedman, Bethany; Fuleihan, Ramsay L; Gyimah, Awura; Hahn, Sihoun; Hofherr, Sean; Hruska, Kathleen S; Hu, Zhanzhi; Jeanne, Médéric; Jin, Guanjun; Johnson, D Aaron; Kavus, Haluk; Leibel, Rudolph L; Lobritto, Steven J; McGee, Stephen; Milner, Joshua D; McWalter, Kirsty; Monaghan, Kristin G; Orange, Jordan S; Pimentel Soler, Nicole; Quevedo, Yeyson; Ratner, Samantha; Retterer, Kyle; Shah, Ankur; Shapiro, Natasha; Sicko, Robert J; Silver, Eric S; Strom, Samuel; Torene, Rebecca I; Williams, Olatundun; Ustach, Vincent D; Wynn, Julia; Taft, Ryan J; Kruszka, Paul; Caggana, Michele; Chung, Wendy K

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

Characterizing Long COVID Symptoms During Early Childhood

儿童早期新冠长期症状的特征

Gross, Rachel S; Thaweethai, Tanayott; Salisbury, Amy L; Kleinman, Lawrence C; Mohandas, Sindhu; Rhee, Kyung E; Snowden, Jessica N; Tantisira, Kelan G; Warburton, David; Wood, John C; Kinser, Patricia A; Milner, Joshua D; Rosenzweig, Erika B; Irby, Katherine; Flaherman, Valerie J; Karlson, Elizabeth W; Chibnik, Lori B; Pant, Deepti B; Krishnamoorthy, Aparna; Gallagher, Richard; Lamendola-Essel, Michelle F; Hasson, Denise C; Katz, Stuart D; Yin, Shonna; Dreyer, Benard P; Blancero, Frank; Carmilani, Megan; Coombs, K; Fitzgerald, Megan L; Letts, Rebecca J; Peddie, Aimee K; Aschner, Judy L; Atz, Andrew M; Banerjee, Dithi; Bogie, Amanda; Bukulmez, Hulya; Clouser, Katharine; Cottrell, Lesley A; Cowan, Kelly; D'Sa, Viren A; Dozor, Allen; Elliott, Amy J; Faustino, E Vincent S; Fiks, Alexander G; Gaur, Sunanda; Gennaro, Maria L; Gordon, Stewart; Hasan, Uzma N; Hester, Christina M; Hogan, Alexander; Hsia, Daniel S; Kaelber, David C; Kosut, Jessica S; Krishnan, Sankaran; McCulloh, Russell J; Michelow, Ian C; Nolan, Sheila M; Oliveira, Carlos R; Olson, Lynn M; Pace, Wilson D; Palumbo, Paul; Raissy, Hengameh; Reyes, Andy; Ross, Judith L; Salazar, Juan C; Selvarangan, Rangaraj; Stein, Cheryl R; Stevenson, Michelle D; Teufel, Ronald J; Werzberger, Alan; Westfall, John M; Zani, Kathleen; Zempsky, William T; Zimmerman, Emily; Bind, Marie-Abele C; Chan, James; Guan, Zoe; Morse, Richard E; Reeder, Harrison T; Metz, Torri D; Newburger, Jane W; Truong, Dongngan T; Foulkes, Andrea S; Stockwell, Melissa S

Splice site and de novo variants can cause PLCG2-associated immune dysregulation with cold urticaria

剪接位点和新生变异可导致PLCG2相关免疫失调,并伴有寒冷性荨麻疹。

Chou, Sophia R; Bailey, Alexis C; Baysac, Kathleen; Oler, Andrew J; Milner, Joshua D; Ombrello, Michael J

Prolonged STAT1 signaling in neurons causes hyperactive behavior.

神经元中 STAT1 信号传导持续时间过长会导致过度活跃行为

Clark Danielle N, Brown Shelby V, Xu Li, Lee Rae-Ling, Ragusa Joey V, Xu Zhenghao, Milner Joshua D, Filiano Anthony J

Mosaic STAT5B gain-of-function associated with demyelinating disease and autoimmunity

与脱髓鞘疾病和自身免疫相关的 STAT5B 嵌合体功能获得

Schmitt, Erica G; Saucier, Nermina; Risma, Samuel I; Arbag, Sena N; Kolicheski, Ana; Paul, Alexander J; Toler, Tomi L; Semkiu, Katarina; Mar, Soe S; Milner, Joshua D; Bednarski, Jeffrey J; Cooper, Megan A