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L

Luigi Boccuto

Clemson University

38H指数
214论文数
5.2K被引数
收录论文 77
发表时间
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The Neurobehavioral Profile of Phelan–McDermid Syndrome: Suggestions for Assessment Tools in Light of the 2023 Consensus Guidelines费兰-麦克德米德综合征的神经行为特征：基于2023年共识指南的评估工具建议
errGenes
IF2.8
err2026-09-20
err0
errOAAI
errEmily Payne; Sara M. Sarasua; Curtis Rogers; Rebekah Martin; Katy Phelan; Laura Beamer; Luigi Boccuto
err分享
err收藏
Implications of Clinical and Genetic Management of Subjects With BAP1 Germline Variants携带BAP1生殖系变异个体的临床与遗传管理意义
errJournal of Thoracic Oncology
IF20.8
err2026-09-04
err0
PREAI
errElizabeth Casey West; Filippo Lococo; Luigi Boccuto
err分享
err收藏
Monoallelic BRCA1/2 variants in pediatric, adolescent, and young adult patients with central nervous system tumors儿童、青少年及年轻成年中枢神经系统肿瘤患者中的单等位基因BRCA1/2变异
errESMO Open
IF8.3
err2026-07-16
err0
errOAAI
errS. Cipri; E. Agolini; G.D. Baldo; A. Cacchione; G. Megaro; S. Rossi; S. Barresi; A. Carai; G.S. Colafati; L. Boccuto; A. Mastronuzzi
err分享
err收藏
Cellular Metabolic Signatures of Long COVID-19长新冠的细胞代谢特征
errInfectious Disease Reports
IF2.4
err2026-05-28
err0
errOAAI
errSujata Srikanth; Diana Ivankovic; Lucia Gonzales; Delphine Dean; Luigi Boccuto
err分享
err收藏
Behavioral Features in Phelan–McDermid Syndrome: Characteristics and Genetic and Metabolic Contributions in a Cohort of 56 IndividualsPhelan-McDermid综合征的行为特征: 56个人的特征以及遗传和代谢贡献
errGenes
IF2.8
err2026-02-09
err0
errOAAI
errEmily Payne; Bridgette A. Moffitt; Lindsay M. Oberman; Laura Beamer; Sujata Srikanth; Lauren Nicole Cascio; Kelly Jones; Lavanya Jain; Rini Pauly; Melanie May; Cindy Skinner; Carrie Buchanan; Barbara G. DuPont; Rebekah R. Martin; R. Curtis Rogers; Katy Phelan; Sara M. Sarasua; Walter E. Kaufmann; Luigi Boccuto
err分享
err收藏
Craniofacial Dysmorphology Associated With Phelan-McDermid Syndrome Using Three-Dimensional Morphometrics与Phelan-McDermid综合征相关的颅面畸形的三维形态测量学研究
errClinical Genetics
IF2.3
err2026-02-01
err0
errOAAI
errWeisensee, Katherine; Sarasua, Sara M.; Rennert, Lior; Rogers, Curtis; Phelan, Katy; Powder, Kara; Boccuto, Luigi
err分享
err收藏
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
errMetabolites
IF3.7
err2026-01-08
err0
errOAAI
errAubrey Mattingly; Zoe Vickery; Alex Fiorentino; Ethan Wilson; Sydney McCune; Sydney Clark; Eric Blanchard; Jillian Spencer; Abigail Broom; Diana Ivankovic; Brooklyn Pace; Lauren Baskin; Ludovico Abenavoli; W. Jeffery Edenfield; Ki Chung; Christopher L. Farrell; Hakon Hakonarson; Luigi Boccuto
err分享
err收藏
Online education for rare genetic diseases: a systematic review罕见遗传病在线教育：系统综述
errOrphanet Journal of Rare Diseases
IF3.5
err2025-12-31
err0
errOAAI
errPinar Ozmizrak; Luigi Boccuto; Tracy Brock Lowe; Stephanie Trammel; Jane DeLuca
err分享
err收藏
The Concordance of Secondary Pathogenic Germline Variants Identified by Tumor Genomic Profiling in Adult Solid Tumor Patients at Two US Community Cancer Centers通过肿瘤基因组分析在两家美国社区癌症中心成人实体瘤患者中鉴定出的次级致病性胚系变异的一致性
errGenes 2025, Vol. 16, Page 1476
IF2.8
err2025-12-09
err0
errOAAI
errSarah Moncado; Sourat Darabi; Diana Ivankovic; Luigi Boccuto
err分享
err收藏
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review五种已知多胺代谢病的遗传和表型特征：一项批判性叙述性综述
errAmerican Journal of Medical Genetics Part A
IF1.7
err2025-12-01
err0
errOAAI
errVanSickle, Elizabeth A.; Sarasua, Sara M.; Lowe, Tracy; Farrell, Christopher L.; Boccuto, Luigi; Schwartz, Charles; Pegg, Anthony E.; Peron, Angela; Faundes, Victor; Ganapathi, Mythily; Chung, Wendy K.; Ziegler, Alban; Hofstede, Floris; Prouteau, Clement; Steindl, Katharina; Olson, Colleen; Devinsky, Orrin; Mastracci, Teresa L.; Casero Jr, Robert A.; Stewart, Tracy Murray; Gilmour, Susan; Koerner, Teri; Kutler, Mary Jo; Rajasekaran, Surender; Michael, Julianne; Bachmann, Andre S.; Bupp, Caleb P.
err分享
err收藏
Metabolic Dysfunction-Associated Steatotic Liver Disease in a Patient with Phelan–McDermid Syndrome代谢功能障碍相关脂肪性肝病在一位Phelan–McDermid综合征患者中的表现
errLife 2025, Vol. 15, Page 1586
IF0
err2025-10-11
err0
errOAAI
errLuigi Boccuto; Giuseppe Guido Maria Scarlata; Bridgette A. Moffitt; Sara M. Sarasua; Katy Phelan; Curtis Rogers; Ludovico Abenavoli
err分享
err收藏
CANCER PREDISPOSITION SYNDROMES IN PEDIATRIC PATIENTS WITH HIGH-GRADE GLIOMAS儿童患者中高危胶质瘤的癌症易患综合征
errNEURO-ONCOLOGY
IF13.4
err2025-10-01
err0
errOAAI
errDel Baldo, G.; Cipri, S.; Boccuto, L.; Agolini, E.; Novelli, A.; Cacchione, A.; Lodi, M.; Barresi, S.; Giovannoni, I; Rossi, S.; Miele, E.; Vinci, M.; Carai, A.; Tartaglia, M.; Locatelli, F.; Mastronuzzi, A.
err分享
err收藏
Prognostic Impact of KRAS and SMARCA4 Mutations and Co-Mutations on Survival in Non-Small Cell Lung Cancer: Insights from the AACR GENIE BPC DatasetKRAS和SMARCA4突变及共突变对非小细胞肺癌生存预后的影响：AACR GENIE BPC数据集的启示
errBiomedicines 2025, Vol. 13, Page 2142
IF3.9
err2025-09-02
err0
errOAAI
errPeter Manolakos; Yu-Bo Wang; Janice Withycombe; Luigi Boccuto; Diana Ivankovic
err分享
err收藏
A narrative review of miR-124 as a shared molecular marker across psychiatric disordersmiR-124作为一种跨精神科疾病的共享分子标志物的综述
errBRAIN MECHANISMS
IF0
err2025-09-01
err0
PREAI
errHummel, Katelyn; Boccuto, Luigi; Sarasua, Sara M.; Allison, Kendra; Thompson, Garrie B.
err分享
err收藏
CDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic VariantsCDKL5缺乏症：揭示致病性变异的分子机制
errInternational Journal of Molecular Sciences 2025, Vol. 26, Page 8399
IF4.9
err2025-08-29
err0
errOAAI
errShamrat Kumar Paul; Shailesh Kumar Panday; Luigi Boccuto; Emil Alexov
err分享
err收藏
A novel approach to metabolic profiling in case models of MECP2-related disorders
errMETABOLIC BRAIN DISEASE
IF3.5
err2025-02-13
err0
errOAAI
errColeman, Jessica A. Cooley; Moffitt, Bridgette A.; Bridges, William C.; Jones, Kelly; May, Melanie; Skinner, Cindy; Friez, Michael J.; Skinner, Steven A.; Schwartz, Charles E.; Boccuto, Luigi
err分享
err收藏
A Longitudinal Exploration of CACNA1A-Related Hemiplegic Migraine in Children Using Electronic Medical Records
errNEUROLOGY-GENETICS
IF3.7
err2025-02-01
err0
PREAI
errSchaare, Donna; Lusk, Laina; Karlin, Alexis; Kaufman, Michael C.; Magielski, Jan; Sarasua, Sara M.; Allison, Kendra; Boccuto, Luigi; Helbig, Ingo
err分享
err收藏
Exploring the Therapeutic Potential for Breast Cancer of Phytochemicals and Secondary Metabolites in Marjoram, Thyme, and Persimmon
errMETABOLITES
IF3.7
err2024-11-25
err0
errOAAI
errMattingly, Aubrey; Vickery, Zoe; Ivankovic, Diana; Farrell, Christopher L.; Hakonarson, Hakon; Nguyen, Katie; Boccuto, Luigi
err分享
err收藏
Impact of Substance Use Disorder on Tryptophan Metabolism Through the Kynurenine Pathway: A Narrative Review
errMETABOLITES
IF3.7
err2024-11-10
err0
errOAAI
errContella, Lindsey; Farrell, Christopher L.; Boccuto, Luigi; Litwin, Alain H.; Snyder, Marion L.
err分享
err收藏
Metabolic Dysfunction-Associated Steatotic Liver Disease in Patients with Inflammatory Bowel Diseases: A Pilot Study炎症性肠病患者代谢功能障碍相关的脂肪性肝病: 一项初步研究
errLIFE-BASEL
IF3.4
err2024-09-25
err3
errOAAI
errAbenavoli, Ludovico; Spagnuolo, Rocco; Scarlata, Giuseppe Guido Maria; Gambardella, Maria Luisa; Boccuto, Luigi; Mendez-Sanchez, Nahum; Luzza, Francesco
err分享
err收藏

研究方向

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合作学者
合作期刊
H
Håkon Håkonarson
H 指数: 177 · 论文数: 1.5K
J
Jay Shendure
H 指数: 167 · 论文数: 663
E
Eamonn R. Maher
H 指数: 134 · 论文数: 850
W
William B. Dobyns
H 指数: 127 · 论文数: 600
F
Franco Locatelli
H 指数: 125 · 论文数: 2.2K
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