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

Diagnostic Implications and Correlates of Plasma Adenosine Deaminase 2 Activity and ADA2 Variants

血浆腺苷脱氨酶2活性及ADA2变异体的诊断意义和相关性

Yue, Jian; LeSon, Courtney E; Rimland, Casey A; Brodeur, Kailey; Weng, Rachel; Hsu, Evan E; Lam, Michael T; Meyer, Manpreet; Okada, Seigo; Hsu, Andrew L D; Alhezam, Musaab A; Perron, Megan M; Halyabar, Olha; Dedeoglu, Fatma; Nigrovic, Peter A; Shimamura, Akiko; Rowe, R Grant; Cooper, Megan A; Vogel, Tiphanie P; Gillispie-Taylor, Miriah; Peterson, Rosemary; Lin, Clara; Nowicki, Katherine D; Dollerschell, Kaylee; Nakano, Taizo A; Labrosse, Roxane; Cochino, Alexis-Virgil; Ioan, Andreea; Mendonca, Leonardo Oliveira; Barros, Samar Freschi; Kalil, Jorge; Perez-Rojas, Javier; Diaz-Kuan, Alicia; Sobel, Eric S; Moussa, Taha; Lee, Samuel Shang Ming; Koh, Li Wearn; Khan, Archana; Sutnga, Sodality; Khubchandani, Raju; Shoman, Walaa; El Chazli, Yasmine; Pinto, Benzeeta; Kavadichanda, Chengappa; Abraham, Roshini S; Sun, Xiangwei; Zhou, Qing; Naidu, Gsrsnk; Sharma, Aman; Esperanzate, Carl; Kastner, Daniel L; Aksentijevich, Ivona; Kelly, Susan J; Hershfield, Michael; Tarrant, Teresa K; Lee, Pui Y

Germ line LCP1 mutations cause immunodeficiency with neutropenia, monocytopenia, lymphopenia, and defective cytokinesis

生殖系LCP1突变会导致免疫缺陷,表现为中性粒细胞减少、单核细胞减少、淋巴细胞减少和细胞分裂缺陷。

van Bergen, Thijs; Bosch, Dennis A; Bellanné-Chantelot, Christine; Mulet-Lazaro, Roger; Bledsoe, Jacob R; Chen, Lanpeng; de Looper, Hans W J; van Dijk, Claire; Ter Borg, Mariette N D; Bindels, Eric M J; Hoogenboezem, Remco M; Roovers, Onno; Olofsen, Patricia A; Bartels, Marije; van Montfrans, Joris; Breed, Puck; Salzer, Elisabeth; Holierhoek, Marloes G; Nelken, Brigitte; Beaupain, Blandine; Fleming, Mark D; Shimamura, Akiko; Raaijmakers, Marc H G P; Donadieu, Jean; Newburger, Peter E; Touw, Ivo P; Aalbers, Anna M

Allogeneic hematopoietic stem cell transplantation in ERCC6L2 disease

ERCC6L2疾病的异基因造血干细胞移植

Hakkarainen, Marja; Sicre de Fontbrune, Flore; Kaaja, Ilse; Douglas, Suvi; Dalle, Jean-Hugues; Risitano, Antonio Maria; Kulasekararaj, Austin; Alsultan, Abdulrahman; Cutler, Corey; Ho, Vincent T; Hellström-Lindberg, Eva; Mielke, Stephan; Myhre, Anders E; Rihani, Rawad; Shanap, Mayada Abu; Hashem, Hasan; Shimamura, Akiko; Rowe, R Grant; Auer, Franziska; Beier, Fabian; Desnica, Lana; Hough, Rachael; Ali Jafri, Syed Rafat; Ayas, Mouhab; Jardine, Laura; Mellid, Eugenia Fernandez; Corrales, Irene; Richardson, Deborah; Özbek, Namik Yasar; Zaniewska-Tekieli, Anna; Gozdzik, Jolanta; Ryhänen, Samppa; Niinimäki, Riitta; Jahnukainen, Kirsi; Salmenniemi, Urpu; Kilpivaara, Outi; Wartiovaara-Kautto, Ulla

Scaling genomic reanalysis to unlock diagnoses and transform rare disease care

扩大基因组再分析规模,以突破诊断难题,变革罕见病治疗。

Rockowitz, Shira; Shao, Wanqing; French, Courtney; Truong, Tina K; Hagen, Jacob; McGonigle, Rylee; Geltzeiler, Alexa; Sheidley, Beth; Smith, Lacey; D'Gama, Alissa M; Irons, Mira; Chou, Janet; Stoler, Joan; Kritzer, Amy; Rodan, Lance; Shimamura, Akiko; Bodamer, Olaf; Sacharow, Stephanie; Soul, Janet S; Srivastava, Siddharth; Kennedy, Amy Roberts; Abu-El-Haija, Aya; Lai, Abbe; Olson, Heather; Juusola, Jane; Ryan, Erin; Friedman, Bethany; Singh, Anupama; Li, Cliff; Mallik, Rittika; Strickland, Gwendolyn; Prinzing, Gillian; Mo, Alisa; O'Donnell-Luria, Anne; Bolton, Jeff; Boone, Philip M; Brucker, William; Duyzend, Michael; Mahida, Sonal; Miller, David T; Omorodion, Jacklyn; Petit, Jeanette; Picker, Jonathan; Poduri, Annapurna; Carlston, Colleen; Wojcik, Monica H; Sliz, Piotr; Chung, Wendy K

ANKRD26-related thrombocytopenia 2 with a baseline increase in blasts: implications for clinical surveillance

ANKRD26相关性血小板减少症2伴原始细胞基线升高:对临床监测的意义

Wahlster, Lara; Godley, Lucy A; Cheng, Jason X; Drazer, Michael W; Reilly, Christopher R; Pinkus, Geraldine S; Rowe, Jared H; Weichert-Leahey, Nina; Rowe, R Grant; Gorfinkel, Lev; Brundige, Karyn; Wachter, Franziska; Messa, Luana; Michelson, Alan D; Cantor, Alan B; Shimamura, Akiko; Bledsoe, Jacob R

Lymphoid malignancies in patients with Shwachman-Diamond syndrome

施瓦赫曼-戴蒙德综合征患者的淋巴系统恶性肿瘤

Reed, Helen D; Do, Hyunwoo; Weller, Edie; Harris, Marian H; Reilly, Christopher R; Tsai, Harrison K; Farrar, Jason E; Lau, Bonnie W; Pommert, Lauren; Gamper, Christopher; Atkinson, Ian; Coyne, Katherine; Joos, Margret; Loveless, Sara; Steltz, Sarah; Cheng, Leah; Malsch, Maggie; Myers, Kasiani; Shimamura, Akiko

A methyltransferase-independent role for METTL1 in tRNA aminoacylation and oncogenic transformation.

METTL1 在 tRNA 氨酰化和致癌转化中发挥不依赖于甲基转移酶的作用

Ali Raja H, Orellana Esteban A, Lee Su Hyun, Chae Yun-Cheol, Chen Yantao, Clauwaert Jim, Kennedy Alyssa L, Gutierrez Ashley E, Papke David J, Valenzuela Mateo, Silverman Brianna, Falzetta Amanda, Ficarro Scott B, Marto Jarrod A, Fletcher Christopher D M, Perez-Atayde Antonio, Alcindor Thierry, Shimamura Akiko, Prensner John R, Gregory Richard I, Gutierrez Alejandro

Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency

GATA2缺陷引起的儿童MDS的年龄依赖性表型和分子演变

Kotmayer, Lili; Kozyra, Emilia J; Kang, Guolian; Strahm, Brigitte; Yoshimi, Ayami; Sahoo, Sushree S; Pastor, Victor B; Attardi, Enrico; Voss, Rebecca; Vinci, Luca; Kaiser, Max; Dworzak, Michael N; De Moerloose, Barbara; Sukova, Martina; Starý, Jan; Hasle, Henrik; Jahnukainen, Kirsi; Polychronopoulou, Sophia; Kállay, Krisztián; Smith, Owen P; Malone, Andrea; Barzilai Birenboim, Shlomit; Masetti, Riccardo; Buechner, Jochen; Ussowicz, Marek; Kjöllerström, Paula; Bodova, Ivana; Kavcic, Marko; Català, Albert; Turkiewicz, Dominik; Schmugge, Markus; de Haas, Valerie; Okhomina, Victoria I; Sotomayor, Cristian; Catalán, Paula; Wehr, Claudia; Salzer, Ulrich; Germing, Ulrich; Gattermann, Norbert; Bödör, Csaba; Gray, Nathan; Lewis, Sara; Shimamura, Akiko; Giorgetti, Alessandra; Erlacher, Miriam; Niemeyer, Charlotte M; Wlodarski, Marcin W

Genetic Predisposition to Hematologic Malignancies

血液系统恶性肿瘤的遗传易感性

Hamilton, Kayla V; Shimamura, Akiko; Pollard, Jessica A

Eltrombopag in combination with immunosuppressive therapy in pediatric severe aplastic anemia: phase 2 ESCALATE trial

艾曲波帕联合免疫抑制疗法治疗儿童重型再生障碍性贫血:ESCALATE II期试验

Shimamura, Akiko; Maschan, Alexey; Bennett, Carolyn; Samarasinghe, Sujith; Farrar, Jason E; Li, Chi-Kong; Sirachainan, Nongnuch; Pongtanakul, Bunchoo; Komvilaisak, Patcharee; Zubarovskaya, Ludmila; Rothman, Jennifer A; Walkovich, Kelly; Nakano, Taizo A; Bertuch, Alison A; Ferrao, Anabela; Bhat, Rukhmi; Hanna, Rabi; Overholt, Kathleen; Boklan, Jessica; Wong, Tze Fang; Wang, Qinxia; Urban, Patrick; Strahm, Brigitte; Wang, Winfred; Vlachos, Adrianna; Williams, David A