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

Expanding access to genomic analysis and reporting in research studies: The GENYSIS research core

扩大基因组分析和报告在研究中的应用:GENYSIS 研究核心

Foss, Kimberly S; Sneddon, Tam P; Fensterle, Eleanor P; Melville, Scott A; Xiong, Mai; Gregory, Christopher W; Greenwood, Paul; Rafferty, Kelly A; Hutchins, Elizabeth K; Vora, Neeta L; Gilmore, Kelly L; Hunter, Senyene E; Weck, Karen E; Berg, Jonathan S; Powell, Bradford C

Case Report: long-term clinical outcomes in RANBP2-associated acute necrotizing encephalopathy

病例报告:RANBP2相关急性坏死性脑病的长期临床结局

Varghese, Sonia A; Olubiyi, Olutayo I; Basuroski, Irena Dujmovic; Broman-Fulks, Jordan; Cardwell, Emma B; Peck, Stephanie; Yang, Qian-Zhou JoJo; Hung, Sheng-Che; Hunter, Senyene E

Disparities in the utilization of genetic testing for non-acquired infantile epileptic spasms syndrome in a single healthcare center in North Carolina

北卡罗来纳州某医疗中心非获得性婴儿癫痫痉挛综合征基因检测利用率的差异

Marzouki, Kenza El; Jenkins, Bridley K; Tsujimoto, Tamy Moraes; Jiang, Huijun; Cardwell, Emma B; Arhin, Martin; Eyo, Unwana; Gonzalez-Rodriguez, Cristian; Peck, Stephanie; Lin, Feng-Chang; Hunter, Senyene E

A Multicenter Training and Interrater Reliability Study of the BASED Score for Infantile Epileptic Spasms Syndrome

婴儿癫痫痉挛综合征 BASED 评分的多中心培训和评分者间信度研究

Mytinger, John R; Albert, Dara V F; Aylward, Shawn C; Beatty, Christopher W; Bhalla, Sonam; Bhatia, Sonal; Brock, Guy N; Ciliberto, Micheal A; Choudhari, Purva R; Clark, Daniel J; Cohen, Jennifer Madan; Czech, Theresa M; Fredwall, Megan M; Gonzalez-Giraldo, Ernesto; Harini, Chellamani; Hunter, Senyene E; Sandoval Karamian, Amanda G; Katyayan, Akshat; Kistler, Isaac; Kulkarni, Neil; Liu, Virginia B; McCabe, Corinne; Murray, Thomas; Neville, Kerri; Patel, Shital H; Pavuluri, Spriha; Phillips, Donald J; Samanta, Debopam; Sirsi, Deepa; Spelbrink, Emily M; Stafstrom, Carl E; Steenari, Maija; Takacs, Danielle S; Terrill, Tyler; Tran, Linh; Vidaurre, Jorge; Shrey, Daniel W

MRI predictors of long-term outcomes of neonatal hypoxic ischaemic encephalopathy: a primer for radiologists

MRI预测新生儿缺氧缺血性脑病长期预后的指标:放射科医生入门指南

Hung, Sheng-Che; Tu, Yi-Fang; Hunter, Senyene E; Guimaraes, Carolina

Epilepsy and overgrowth-intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment

癫痫和过度生长-智力障碍综合征:患者组织视角下的合作加速治疗途径

Grens, Kerry; Church, Kit M; Diehl, Eric; Hunter, Senyene E; Tatton-Brown, Katrina; Kiernan, Jill; Delagrammatikas, Christal G

A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization

严重脊髓性肌萎缩症患者YG盒结构域纯合错义变异:病例报告及变异特征分析

Li, Leping; Perera, Lalith; Varghese, Sonia A; Shiloh-Malawsky, Yael; Hunter, Senyene E; Sneddon, Tam P; Powell, Cynthia M; Matera, A Gregory; Fan, Zheng

Recurrent acute hemorrhagic necrotizing encephalopathy associated with RAN-binding protein-2 gene mutation in a pediatric patient

儿童患者复发性急性出血性坏死性脑病与RAN结合蛋白-2基因突变相关

Olubiyi, Olutayo Ibukunolu; Zamora, Carlos; Jewells, Valerie; Hunter, Senyene E

Wide range of perioperative drugs and doses used in inguinal hernia repairs for premature infants

早产儿腹股沟疝修补术中使用的围手术期药物种类繁多,剂量各异。

Dorismond, Christina; Hunter, Senyene E; McNaull, Peggy P; Zimmerman, Kanecia O; Benjamin, Daniel K; Greenberg, Rachel G; Corey, Kristin M; Laughon, Matthew M; Jackson, Wesley M

The QPCR assay for analysis of mitochondrial DNA damage, repair, and relative copy number

用于分析线粒体 DNA 损伤、修复和相对拷贝数的 QPCR 检测

Senyene E Hunter, Dawoon Jung, Richard T Di Giulio, Joel N Meyer