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

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

Hepatic Manifestations of STAT1 Gain-of-Function Variants

STAT1功能获得性变异的肝脏表现

Aleyadeh, Wesam; Lin, Wanrun; Pirzada, Sana A; Fathma, Sawsan; Bergerson, Jenna R E; Lionakis, Michail S; Holland, Steven M; Kleiner, David E; Heller, Theo

Pre- and peri-hematopoietic cell transplant management of disseminated non-Helicobacter pylori Helicobacter infection in X-linked agammaglobulinemia: Case series and literature review

X连锁无丙种球蛋白血症患者播散性非幽门螺杆菌感染的造血干细胞移植前及移植后管理:病例系列及文献综述

Lee, Rachel; Arnold, Danielle E; Parta, Mark; Pai, Sung-Yun; Dekker, John P; Das, Sanchita; Lee, Rose; Cuellar-Rodriguez, Jennifer; Bergerson, Jenna; Czech, Mary M

Restoration of the human skin microbiome following immune recovery after hematopoietic stem cell transplantation

造血干细胞移植后免疫重建过程中人体皮肤微生物群的恢复

Che, You; Han, Jungmin; Harkins, Catriona P; Hou, Peng; Conlan, Sean; Deming, Clay; Amirkhani, Adel; Bingham, Molly A; Holmes, Cassandra J; Englander, Hanna; Shen, Zeyang; Castelo-Soccio, Leslie; Dimitrova, Dimana; Kanakry, Jennifer A; Bergerson, Jenna R E; Notarangelo, Luigi D; Pittaluga, Stefania; Zhao, Chen; Dell'Orso, Stefania; Pai, Sung-Yun; Hickstein, Dennis D; Holland, Steven M; Brownell, Isaac; Nagao, Keisuke; Gonzalez, Corina E; Shah, Nirali N; Freeman, Alexandra F; Su, Helen C; Segre, Julia A; Kong, Heidi H

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

Immunopathological and microbial signatures of inflammatory bowel disease in partial RAG deficiency.

部分 RAG 缺乏症炎症性肠病的免疫病理学和微生物学特征

Castagnoli Riccardo, Pala Francesca, Subramanian Poorani, Oguz Cihan, Schwarz Benjamin, Lim Ai Ing, Burns Andrew S, Fontana Elena, Bosticardo Marita, Corsino Cristina, Angelova Angelina, Delmonte Ottavia M, Kenney Heather, Riley Deanna, Smith Grace, Ott de Bruin Lisa, Oikonomou Vasileios, Dos Santos Dias Lucas, Fink Danielle, Bohrnsen Eric, Kimzey Cole D, Marseglia Gian Luigi, Alva-Lozada Guisela, Bergerson Jenna R E, Brett Ana, Brigatti Karlla W, Dimitrova Dimana, Dutmer Cullen M, Freeman Alexandra F, Ale Hanadys, Holland Steven M, Licciardi Francesco, Pasic Srdjan, Poskitt Laura E, Potts David E, Dasso Joseph F, Sharapova Svetlana O, Strauss Kevin A, Ward Brant R, Yilmaz Melis, Kuhns Douglas B, Lionakis Michail S, Daley Stephen R, Kong Heidi H, Segre Julia A, Villa Anna, Pittaluga Stefania, Walter Jolan E, Vujkovic-Cvijin Ivan, Belkaid Yasmine, Notarangelo Luigi D

Genome sequences of Methylobacterium and Methylorubrum isolates from Cd-contaminated soils in the Tar Creek Superfund site

从塔溪超级基金场地镉污染土壤中分离出的甲基杆菌属和甲基红杆菌属菌株的基因组序列

Grimes, Evan S; Bergerson, Samuel J; McHugh, Emily P; Monismith, David; Campbell, James H; Campbell, Alisha G

Resolution of Squamous-Cell Carcinoma by Restoring T-Cell Receptor Signaling

通过恢复T细胞受体信号传导来消除鳞状细胞癌

Ye, Peiying; Bergerson, Jenna R E; Brownell, Isaac; Starrett, Gabriel J; Abraham, Roshini S; Anderson, Megan V; Martin, Triscia; MacMath, Derek; Kuehn, Hye Sun; Padiadpu, Jyothi; Zhao, Siqi; Rosenzweig, Sergio D; Tussiwand, Roxane; Leonard, Warren J; Pittaluga, Stefania; Raffeld, Mark; Arnold, Danielle E; Lisco, Andrea

GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway

GIMAP5缺陷揭示了哺乳动物神经酰胺驱动的长寿保障通路

Ann Y Park #,Michael Leney-Greene #,Matthew Lynberg,Justin Q Gabrielski,Xijin Xu,Benjamin Schwarz,Lixin Zheng,Arasu Balasubramaniyam,Hyoungjun Ham,Brittany Chao,Yu Zhang,Helen F Matthews,Jing Cui,Yikun Yao,Satoshi Kubo,Jean Michel Chanchu,Aaron R Morawski,Sarah A Cook,Ping Jiang,Juan C Ravell,Yan H Cheng,Alex George,Aiman Faruqi,Alison M Pagalilauan,Jenna R E Bergerson,Sundar Ganesan,Samuel D Chauvin,Jahnavi Aluri,Joy Edwards-Hicks,Eric Bohrnsen,Caroline Tippett,Habib Omar,Leilei Xu,Geoffrey W Butcher,John Pascall,Elif Karakoc-Aydiner,Ayca Kiykim,Holden Maecker,İlhan Tezcan,Saliha Esenboga,Raul Jimenez Heredia,Deniz Akata,Saban Tekin,Altan Kara,Zarife Kuloglu,Emel Unal,Tanıl Kendirli,Figen Dogu,Esra Karabiber,T Prescott Atkinson,Claude Cochet,Odile Filhol,Catherine M Bosio,Mark M Davis,Richard P Lifton,Erika L Pearce,Oliver Daumke,Caner Aytekin,Gülseren Evirgen Şahin,Aysel Ünlüsoy Aksu,Gulbu Uzel,V Koneti Rao,Sinan Sari,Buket Dalgıç,Kaan Boztug,Deniz Cagdas,Sule Haskologlu,Aydan Ikinciogullari,David Schwefel,Silvia Vilarinho,Safa Baris,Ahmet Ozen,Helen C Su,Michael J Lenardo