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

Human-Centered Design of a Contextualized Service Delivery Model for Families of Infants With Major Congenital Anomalies in Kenya

以人为本,为肯尼亚患有严重先天性异常婴儿的家庭设计情境化服务提供模式

Chepkemoi, Audrey; McPheron, Molly; Naanyu, Violet; Carlucci, James G; Kerich, Caroline; Matelong, Winnie; Kooreman, Harold; McHenry, Megan S; Bernard, Caitlin; Kiano, Marylydia; Midiwo, Roselyn; Musick, Beverly; Yiannoutsos, Constantin T; Wools-Kaloustian, Kara; Patel, Rena C; Were, Edwin; Humphrey, John M

Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease

通过新生儿筛查尽早启动酶替代疗法,可改善婴儿型庞贝病患者的健康结局。

Desai, Ankit K; Rodriguez-Rassi, Eleanor; Parikh, Suhag; Russo, Rossana Sanchez; Kronn, David; Hamm, J Austin; Chang, Irene J; Ortiz, Damara; McPheron, Molly; Lydigsen, Holly; DeArmey, Stephanie; Young, Sarah P; Kishnani, Priya S

Quantitative Analysis of Monocyte-Derived Macrophage NFκB Signaling in Cancer Co-culture Models Using Luciferase-Based Biosensing

利用基于荧光素酶的生物传感技术对癌症共培养模型中单核细胞衍生巨噬细胞 NFκB 信号通路进行定量分析

Li, Colette; Anand, Megha; McPheron, Garrett; Stiles, Maeve; Wayne, Elizabeth

Research-Based Whole Genome Sequencing Identifies Biallelic Loss of Function Variants in DOCK3 Gene Causing DOCK3-Related Disorder: The End of a Diagnostic Journey for This Family

基于研究的全基因组测序鉴定出DOCK3基因中导致DOCK3相关疾病的双等位基因功能缺失变异:该家族的诊断之旅终于结束

Liaqat, Khurram; Treat, Kayla; Mantcheva, Lili; McLaughlin, Aaron; Breman, Amy; McPheron, Molly; Conboy, Erin; Vetrini, Francesco

Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders Emphasizes the Need for Multitier Testing and Collaborative Approaches to Management

一项关于新生儿溶酶体贮积症筛查挑战的探索性研究强调了多层次检测和协作管理方法的重要性。

Terrell, A; Sapp, K; Graham, B; McPheron, M; Wetherill, L

Cohort profile: measuring adverse pregnancy and newborn congenital outcomes (MANGO) study in Kenya

队列概况:肯尼亚不良妊娠结局和新生儿先天性结局测量(MANGO)研究

Humphrey, John M; Chepkemoi, Audrey; Brown, Steven; Carlucci, James G; McPheron, Molly; Kerich, Caroline; Matelong, Winnie; Kooreman, Harold; McHenry, Megan S; Bernard, Caitlin; Kiano, Marylydia; Musick, Beverly S; Yiannoutsos, Constantin T; Wools-Kaloustian, Kara; Patel, Rena C; Were, Edwin

Clinical perspectives: Treating spinal muscular atrophy

临床视角:脊髓性肌萎缩症的治疗

McPheron, Molly A; Felker, Marcia V

Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders

过氧化物酶体生物合成障碍中的二羧酸酰基肉碱生物标志物

Wangler, Michael F; Lesko, Barbara; Dahal, Rejwi; Jangam, Sharayu; Bhadane, Pradnya; Wilson, Theodore E; McPheron, Molly; Miller, Marcus J

CRISPR base editing of cis-regulatory elements enables the perturbation of neurodegeneration-linked genes

CRISPR 碱基编辑顺式调控元件能够扰动与神经退行性疾病相关的基因

Colin K W Lim, Tristan X McCallister, Christian Saporito-Magriña, Garrett D McPheron, Ramya Krishnan, M Alejandra Zeballos C, Jackson E Powell, Lindsay V Clark, Pablo Perez-Pinera, Thomas Gaj

Targeted gene silencing in the nervous system with CRISPR-Cas13

利用 CRISPR-Cas13 实现神经系统中的靶向基因沉默

Jackson E Powell, Colin K W Lim, Ramya Krishnan, Tristan X McCallister, Christian Saporito-Magriña, Maria A Zeballos, Garrett D McPheron, Thomas Gaj