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National Human Genome Research Institute

学者数161
论文数56
被引数7.2K
关联论文 (53)
发表时间
A workshop considering genetic research and data collection with American Indian and Alaska Native people outside of Tribal jurisdiction与美洲印第安人和阿拉斯加原住民在部落管辖范围外进行的遗传研究与数据收集工作坊
err2026-09-21
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errOAAI
errJA Julie A. Beans; JW Jessica W. Blanchard; VY Vanessa Y. Hiratsuka; TH Taiawagi Helton; SR Stephanie Russo Carroll; DA Denise A. Dillard; RO Raymond Orr; FC Francine C. Gachupin; SC Sara C. Hull; RC Rodney C. Haring; NA Nanibaa’ A. Garrison; BS Bobby Saunkeah; KS Krystal S. Tsosie; AJ Aaron J. Goldenberg; DW David Wilson; RR Richard R. Sharp; JY Joseph Yracheta; EB Erika Blacksher; RB R. Brian Woodbury; DL Dalaki Livingston; PS Paul Spicer
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Single-cell RNA sequencing of peripheral blood defines two immunological subtypes of Sjögren's disease distinguished by anti-SSA antibodies and aberrant B cell populations外周血单细胞RNA测序定义了两种以抗SSA抗体和异常B细胞群为特征的干燥综合征免疫亚型
err2026-09-07
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errOAAI
errGeoffrey Urbanski; Kimberly E. Taylor; Emily Flynn; Armita Norouzi; Catherine Chu; Brittany Davidson; Arnab Ghosh; Joanne Nititham; Ravi K. Patel; Annie W. Poon; Gabriela K. Fragiadakis; Alexis J. Combes; Walter L. Eckalbar; Lindsey A. Criswell; Chun Jimmie Ye; Caroline H. Shiboski
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In Vivo Base Editing Partially Rescues Bone Dysplasia in a Mouse Model of Hutchinson-Gilford Progeria Syndrome体内碱基编辑部分挽救 Hutchinson-Gilford 早衰综合征小鼠模型的骨发育不良
err2026-09-04
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errOAAI
errWayne A. Cabral; Caleb M. Grenko; Diana Yeritsyan; Indeevar Beeram; Shubham Laiwala; Lukas R. Johnson; Urraca L. Tavarez; Tingfen Yan; Stephen M. Wincovitch; Luke W. Koblan; Xin D. Gao; Meirui An; Narisu Narisu; Leslie G. Biesecker; David R. Liu; Ara Nazarian; Francis S. Collins; Michael R. Erdos
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Biologic–Biologic and Biologic–JAK Inhibitor Combination Therapy in Refractory Systemic Autoinflammatory Diseases生物制剂-生物制剂和生物制剂-JAK抑制剂联合疗法在难治性系统性自身炎症性疾病中的应用
err2026-08-24
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PREAI
errAbdurrahman Tufan; Deborah L Stone; Tina Romeo; Patrycja Hoffmann; Lorena Wilson; Natalie T Deuitch; Christina Kozycki; Kalpana Manthiram; Sarah Hansen; Daniel L Kastner; Amanda K Ombrello
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Divergent complication patterns of type 2 diabetes in African individuals who are lean versus overweight or obese: a multi-cohort analysis非洲人群中瘦型与超重或肥胖型2型糖尿病患者的并发症模式差异:一项多队列分析
err2026-08-23
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errSabrina Esmail; Charles Hayfron-Benjamin; Samuel N. Darko; Ellis Owusu-Dabo; Erik Beune; Silver Bahendeka; Ayo P. Doumatey; Guanjie Chen; Charles Agyemang; Adebowale A. Adeyemo; Charles N. Rotimi; Karlijn A. C. Meeks; Felix P. Chilunga
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An autoinflammatory CDC42 variant M45L demonstrates the mechanism of pyrin inflammasome activation自身炎症性CDC42变体M45L展示了_pyrin_炎性小体的激活机制
err2026-08-07
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PREAI
errShouya Feng; Thomas Reygaerts; Klara Kong; Matthew C. Wierzbowski; Dhanya Lakshmi Narayanan; Paul J. Baker; Imogen Bishop; Maria Zyulina; Katherine Rosevear; Madeline L. Cleveland; Tim C. Hewitt; T. Daniel Andrews; Davide Randazzo; Peter J. Steinbach; Jae Jin Chae; Hyeonji Kim; Daniel L. Kastner; William D. Renton; Samar Ojaimi; Wonyong Lee; Seth L. Masters
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Obituary: Dr. Mark Andrew Batzer讣告:马克·安德鲁·巴策博士
err2026-08-07
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errOAAI
errPrescott L. Deininger; Stephen T. Sherry; Jerilyn A. Walker; Jinchuan Xing; David A. Ray; Richard Cordaux; Shurjo K. Sen
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A phenome-wide association study of rurality in the All of Us Research Program在全美研究计划中进行的乡村性全表型关联研究
err2026-08-06
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errAnas H Awan, MS; Katharine S Chaillet, BA; Cassia Y Williams-Rogers, BS; Yamna Channa, MD; Dayo A Shittu, MS, MPH; Bennett J Waxse, MD, PhD; David J Schlueter, PhD; Tracey M Ferrara, PhD; Joshua C Denny, MD, MS; Huan Mo, MD; null
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Similarities and differences in the late-onset GM2 gangliosidoses: Tay-Sachs and Sandhoff diseases晚期发病的GM2神经节苷脂贮积症:泰-萨克斯病和桑德霍夫病的相似性与差异性
err2026-08-03
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errConnor J. Lewis; Leila Shirvan; Jean M. Johnston; Catherine Groden; John Yang; Andrea Ashton; Jessica Chong; Mark Moran; Hera Akmal; Selby I. Chipman; Cris Zampieri; Jordan Wickstrom; Jesse Matsubara; Tanya Lehky; Katharine E. Alter; Camilo Toro; Cynthia J. Tifft
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Shotgun Metagenomics Reveals Skin Microbiome Composition and Function in Infant Atopic Disease宏基因组 shotgun 测序揭示婴儿特应性疾病的皮肤微生物组组成和功能
err2026-07-28
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errZeyang Shen; Jana K. Eckert; Richard Saffery; Katrina J. Allen; Audrey Walsh; VITALITY team; Clay Deming; Qiong Chen; Karen Laky; Jenny Min Li; Lindsay Chatman; NISC Comparative Sequencing Program; Heidi H. Kong; Kirsten P. Perrett; Julia A. Segre; Pamela A. Frischmeyer-Guerrerio
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Convergent neuroimmune signaling underlying rapid antidepressant response to ketamine and psychedelics酮胺和致幻剂快速抗抑郁反应的神经免疫信号收敛机制
err2026-07-28
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errGregory H. Jones; Jessica R. Gilbert; Jenessa N. Johnston; Nirmala Akula; Anton Schulmann; Miranda Arakelian; Shiyong Peng; Peixiong Yuan; Ewurakua A. Winful; Mani Yavi; Brandi Quintanilla; Abdel Elkahloun; Ruin Moaddel; Ioline D. Henter; Dede Greenstein; Rodrigo Machado-Vieira; Christopher M. Bartley; Bashkim Kadriu; Moran Amit; Katy Rezvani; Mark D. Kvarta; Francis J. McMahon; Carlos A. Zarate
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Time-dependent effects of rapid-acting antidepressants in iPSC-derived neurons from treatment-resistant depression and healthy volunteers快速起效抗抑郁药在治疗难治性抑郁症和健康志愿者iPSC来源神经元中的时间依赖性效应
err2026-07-24
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errJenessa N. Johnston; Gregory H. Jones; Shiyong Peng; Peixiong Yuan; Mani Yavi; Bashkim Kadriu; Ioline D. Henter; Brandi Quintanilla; Abdel Elkahloun; Ruin Moaddel; Anton Schulmann; Nirmala Akula; Mark D. Kvarta; Francis J. McMahon; Carlos A. Zarate
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Artificial intelligence in clinical genetics: current practice and attitudes among the clinical genetics workforce人工智能在临床遗传学中的应用:临床遗传学工作者的当前实践与态度
err2026-07-09
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PREAI
errAmanda M. Berkstresser; Suzanna E. Ledgister Hanchard; Daniela Iacaboni; Kevin McMilian; Dat Duong; Benjamin D. Solomon; Rebekah L. Waikel
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Psychometric Validation of the Education and Assessment of Genetic Literacy or EAGL Measure教育与遗传素养评估量表(EAGL)的心理测量学验证
err2026-07-08
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errLily S. Barna; Yi Liao; Michael R. Wierzbicki; Gabriela M. Ramírez-Renta; Kimberly A. Kaphingst; Chris Gunter
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Brain aging in Type II GM1 gangliosidosisII型GM1神经节苷脂贮积症中的大脑衰老
err2026-07-06
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errOAAI
errConnor J. Lewis; Selby I. Chipman; Precilla D’Souza; Jean M. Johnston; Muhammad H. Yousef; William A. Gahl; Cynthia J. Tifft; Maria T. Acosta
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