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

Opportunities for RNA sequencing in physiology: from big data to understanding homeostasis and heterogeneity

RNA测序在生理学中的应用机遇:从大数据到理解体内平衡和异质性

Prokop, Jeremy W; Bilinovich, Stephanie M; Tokarski, Ember; Vishweswaraiah, Sangeetha; VanderWeele, Sophie; Das, Akansha S; Chhetri, Surya B; Dao, Alexander; Arora, Sanjana; Goodyke, Austin; Buelow, Katie L; Westgate, Mason; VanSickle, Elizabeth A; Edell, Claudia J; Benson, Lance N; Campbell, Daniel B; Bupp, Caleb P; Holsworth, Amanda; Hartog, Nicholas L; Krueger, Jena M; Cordoba, Marcos; Sims, Matthew; Tamae Kakazu, Maximiliano A; Peraino, Angela M; Graham, Stewart F; Triche, Tim Jr; Hussain, Elora; Leimanis-Laurens, Mara L; Krawczyk, Connie M; Pollock, Jennifer S; Rajasekaran, Surender

Repurposing With Purpose: Treatment of Bachmann-Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

重新利用药物:用依氟鸟氨酸治疗巴赫曼-布普综合征及其对其他多胺病的影响

Bupp, Caleb P; VanSickle, Elizabeth A; Michael, Julianne; Schultz, Chad R; Nguyen, Kelly; Hoefer, Melissa; Rajasekaran, Surender; Bachmann, André S

Collection, preparation, and biobanking of clinical specimens for analysis in polyaminopathies

多胺病临床标本的收集、制备和生物样本库分析

VanSickle, Elizabeth A; Schultz, Chad R; Bachmann, André S; Bupp, Caleb P

Bachmann-Bupp syndrome and treatment

巴赫曼-布普综合征及其治疗

Bachmann, André S; VanSickle, Elizabeth A; Michael, Julianne; Vipond, Marlie; Bupp, Caleb P

Hanensula anomala isolated from the Berkeley Pit, Butte, MT, is a metal-specific extremophile

从蒙大拿州比尤特市伯克利矿坑分离出的异常汉氏菌(Hanensula anomala)是一种金属特异性极端微生物。

Roessler, Kyle; Friedlander, Mariah C; VanSickle, Marthe Y; Rush, Christina L

Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report

一例2个月大婴儿患有RIT1相关努南综合征并伴有冠状动脉扩张的病例报告

Aniol, Claudia V; Prokop, Jeremy W; Rajasekaran, Surender; Pageau, Spencer; Elizer, Sydney K; VanSickle, Elizabeth A; Bupp, Caleb P

Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in P3H1-further expansion of the phenotypic spectrum

由于P3H1基因中存在预测的功能缺失变异和新的错义变异的复合杂合子,导致VIII型成骨不全症的症状较轻,进一步扩展了表型谱。

Mikhail, Kristen A; VanSickle, Elizabeth; Rossetti, Linda Z

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling

MYH10 中的杂合变异与神经发育障碍和先天性异常有关,有证据表明 Hedgehog 信号传导中存在原发性纤毛依赖性缺陷

Alexander M Holtz, Rachel VanCoillie, Elizabeth A Vansickle, Deanna Alexis Carere, Kara Withrow, Erin Torti, Jane Juusola, Francisca Millan, Richard Person, Maria J Guillen Sacoto, Yue Si, Ingrid M Wentzensen, Jada Pugh, Georgia Vasileiou, Melissa Rieger, André Reis, Emanuela Argilli, Elliott H Sher

Genomic and Transcriptomic Analysis of Relapsed and Refractory Childhood Solid Tumors Reveals a Diverse Molecular Landscape and Mechanisms of Immune Evasion

复发和难治性儿童实体瘤的基因组和转录组分析揭示了其多样化的分子图谱和免疫逃逸机制

Byron, Sara A; Hendricks, William P D; Nagulapally, Abhinav B; Kraveka, Jacqueline M; Ferguson, William S; Brown, Valerie I; Eslin, Don E; Mitchell, Deanna; Cornelius, Albert; Roberts, William; Isakoff, Michael S; Oesterheld, Javier E; Wada, Randal K; Rawwas, Jawhar; Neville, Kathleen; Zage, Peter E; Harrod, Virginia L; Bergendahl, Genevieve; VanSickle, Elizabeth; Dykema, Karl; Bond, Jeffrey; Chou, Hsien-Chao; Wei, Jun S; Wen, Xinyu; Reardon, Hue V; Roos, Alison; Nasser, Sara; Izatt, Tyler; Enriquez, Daniel; Hegde, Apurva M; Cisneros, Faith; Christofferson, Austin; Turner, Bryce; Szelinger, Szabolcs; Keats, Jonathan J; Halperin, Rebecca F; Khan, Javed; Saulnier Sholler, Giselle L; Trent, Jeffrey M

COVID-19 in pediatric kidney transplantation: The Improving Renal Outcomes Collaborative

儿童肾移植中的 COVID-19:改善肾脏预后协作组

Varnell, Charles Jr; Harshman, Lyndsay A; Smith, Laurie; Liu, Chunyan; Chen, Shiran; Al-Akash, Samhar; Barletta, Gina-Marie; Belsha, Craig; Brakeman, Paul; Chaudhuri, Abanti; Fadakar, Paul; Garro, Rouba; Gluck, Caroline; Goebel, Jens; Kershaw, David; Matossian, Debora; Nailescu, Corina; Patel, Hiren P; Pruette, Cozumel; Ranabothu, Saritha; Rodig, Nancy; Smith, Jodi; Sebestyen VanSickle, Judith; Weng, Patricia; Danziger-Isakov, Lara; Hooper, David K; Seifert, Michael