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

Metabolic Signatures of Breast Cancer Subtypes and the Metabolic Impact of Chemotherapy

乳腺癌亚型的代谢特征及化疗的代谢影响

Mattingly, Aubrey; Vickery, Zoe; Fiorentino, Alex; Wilson, Ethan; McCune, Sydney; Clark, Sydney; Blanchard, Eric; Spencer, Jillian; Broom, Abigail; Ivankovic, Diana; Pace, Brooklyn; Baskin, Lauren; Abenavoli, Ludovico; Edenfield, W Jeffery; Chung, Ki; Farrell, Christopher L; Hakonarson, Hakon; Boccuto, Luigi

Behavioral Features in Phelan-McDermid Syndrome: Characteristics and Genetic and Metabolic Contributions in a Cohort of 56 Individuals

Phelan-McDermid综合征的行为特征:56例患者队列的特征、遗传和代谢因素

Payne, Emily; Moffitt, Bridgette A; Oberman, Lindsay M; Beamer, Laura; Srikanth, Sujata; Cascio, Lauren Nicole; Jones, Kelly; Jain, Lavanya; Pauly, Rini; May, Melanie; Skinner, Cindy; Buchanan, Carrie; DuPont, Barbara G; Martin, Rebekah R; Rogers, R Curtis; Phelan, Katy; Sarasua, Sara M; Kaufmann, Walter E; Boccuto, Luigi

CDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic Variants

CDKL5 缺乏症:揭示致病变异的分子机制

Paul, Shamrat Kumar; Panday, Shailesh Kumar; Boccuto, Luigi; Alexov, Emil

Genetics of ovulatory dysfunction and infertility: a scoping review and gene ontology analysis

排卵功能障碍和不孕症的遗传学:范围综述和基因本体分析

DiPietro, Erin E; Sarasua, Sara M; Hopkins, Casey S; Ganakammal, Satishkumar Ranganathan; Boccuto, Luigi; Hurwitz, Joshua

Prognostic Impact of KRAS and SMARCA4 Mutations and Co-Mutations on Survival in Non-Small Cell Lung Cancer: Insights from the AACR GENIE BPC Dataset

KRAS 和 SMARCA4 突变及共突变对非小细胞肺癌患者生存预后的影响:来自 AACR GENIE BPC 数据集的启示

Manolakos, Peter; Wang, Yu-Bo; Withycombe, Janice; Boccuto, Luigi; Ivankovic, Diana

LC-MS/MS Detection of Tryptophan, Kynurenine, Kynurenic Acid, and Quinolinic Acid in Urine Samples from Drug-Positive and Illicit Drug-Negative Patients with a Known History of Substance Use Disorder

采用液相色谱-串联质谱法检测有物质使用障碍史的吸毒阳性和吸毒阴性患者尿液样本中的色氨酸、犬尿氨酸、犬尿酸和喹啉酸

Contella, Lindsey; Farrell, Christopher L; Boccuto, Luigi; Litwin, Alain H; Flanagan, Hunter; Melanson, Stacy E F; Tolan, Nicole V; Snyder, Marion L; Greene, Dina N

A Longitudinal Exploration of CACNA1A-Related Hemiplegic Migraine in Children Using Electronic Medical Records

利用电子病历对儿童 CACNA1A 相关偏瘫性偏头痛进行纵向研究

Schaare, Donna; Lusk, Laina; Karlin, Alexis; Kaufman, Michael C; Magielski, Jan; Sarasua, Sara M; Allison, Kendra; Boccuto, Luigi; Helbig, Ingo

Online education for rare genetic diseases: a systematic review

罕见遗传病在线教育:系统性综述

Ozmizrak, Pinar; Boccuto, Luigi; Lowe, Tracy Brock; Trammel, Stephanie; DeLuca, Jane

A novel approach to metabolic profiling in case models of MECP2-related disorders.

MECP2相关疾病病例模型代谢谱分析的新方法

Cooley Coleman Jessica A, Moffitt Bridgette A, Bridges William C, Jones Kelly, May Melanie, Skinner Cindy, Friez Michael J, Skinner Steven A, Schwartz Charles E, Boccuto Luigi

Metabolic Dysfunction-Associated Steatotic Liver Disease in a Patient with Phelan-McDermid Syndrome

代谢功能障碍相关性脂肪肝在 Phelan-McDermid 综合征患者中的发生

Boccuto, Luigi; Scarlata, Giuseppe Guido Maria; Moffitt, Bridgette A; Sarasua, Sara M; Phelan, Katy; Rogers, Curtis; Abenavoli, Ludovico