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

Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder

对溶酶体游离唾液酸贮积症的小鼠和人类细胞模型中的糖鞘脂变化进行分析

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2025.101275
Sabir, Marya S; Dobrenis, Kostantin; Rha, Allisandra K; Pollard, Laura; Leoyklang, Petcharat; Marrero, Mariah; Ciccone, Carla; Hackbarth, Mary E; Huizing, Marjan; Wang, Raymond Y; Gahl, William A; Platt, Frances M; Malicdan, May Christine V
细胞生物学
发表日期：2025
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Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder

探讨白细胞唾液酸测定在溶酶体游离唾液酸贮积症中的应用价值

期刊:JIMD Reports
影响因子:1.8
doi:10.1002/jmd2.70029
Sabir, Marya S; Pollard, Laura; Wolfe, Lynne; Adams, David R; Ciccone, Carla; Leoyklang, Petcharat; Platt, Frances M; Huizing, Marjan; Gahl, William A; Malicdan, May Christine V
细胞生物学
发表日期：2025
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Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder

溶酶体游离唾液酸贮积症患者血浆和脑脊液中糖鞘脂水平的变化

期刊:
影响因子:
doi:10.1016/j.rare.2025.100065
Sabir, Marya S; Wolfe, Lynne; Adams, David R; Ciccone, Carla; Porter, Forbes D; Gahl, William A; Huizing, Marjan; Platt, Frances M; Malicdan, May Christine V
神经科学
发表日期：2025
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Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature

Chediak-Higashi综合征中LYST基因突变谱：新变异体的报告及文献综述

期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2023-109420
Morimoto, Marie; Nicoli, Elena-Raluca; Kuptanon, Chulaluck; Roney, Joseph C; Serra-Vinardell, Jenny; Sharma, Prashant; Adams, David R; Gallin, John I; Holland, Steven M; Rosenzweig, Sergio D; Barbot, Jose; Ciccone, Carla; Huizing, Marjan; Toro, Camilo; Gahl, William A; Introne, Wendy J; Malicdan, May Christine V
发表日期：2024
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Quantitative correlation of ENPP1 pathogenic variants with disease phenotype.

ENPP1致病变异与疾病表型的定量相关性

期刊:Bone
影响因子:3.6
doi:10.1016/j.bone.2024.117136
Ansh Anenya Jai, Stabach Paul R, Ciccone Carla, Cao Wenxiang, De La Cruz Enrique M, Sabbagh Yves, Carpenter Thomas O, Ferreira Carlos R, Braddock Demetrios T
ENPP1
发表日期：2024
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Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study

N-乙酰甘露糖胺 (ManNAc) 治疗 GNE 肌病患者的安全性和有效性：一项开放标签的 II 期研究

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-021-01259-x
Carrillo, Nuria; Malicdan, May C; Leoyklang, Petcharat; Shrader, Joseph A; Joe, Galen; Slota, Christina; Perreault, John; Heiss, John D; Class, Bradley; Liu, Chia-Ying; Bradley, Kennan; Jodarski, Colleen; Ciccone, Carla; Driscoll, Claire; Parks, Rebecca; Van Wart, Scott; Bayman, Levent; Coffey, Christopher S; Quintana, Melanie; Berry, Scott M; Huizing, Marjan; Gahl, William A
发表日期：2021
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Retraction Notice to: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9

撤稿声明：BLOC-1 突变筛查揭示 PLDN 在 Hermansky-Pudlak 综合征 9 型中发生突变

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2017.04.011
Cullinane, Andrew R; Curry, James A; Carmona-Rivera, Carmelo; Summers, C Gail; Ciccone, Carla; Cardillo, Nicholas D; Dorward, Heidi; Hess, Richard A; White, James G; Adams, David; Huizing, Marjan; Gahl, William A
发表日期：2017
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Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants

对史密斯-马吉尼斯综合征样患者队列进行外显子组分析，发现新生的可能致病变异

期刊:Human Genetics
影响因子:3.6
doi:10.1007/s00439-017-1767-x
Berger, Seth I; Ciccone, Carla; Simon, Karen L; Malicdan, May Christine; Vilboux, Thierry; Billington, Charles; Fischer, Roxanne; Introne, Wendy J; Gropman, Andrea; Blancato, Jan K; Mullikin, James C; Gahl, William A; Huizing, Marjan; Smith, Ann C M
发表日期：2017
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Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy

对患有GNE肌病的受试者口服N-乙酰甘露糖胺（ManNAc）后的安全性、药代动力学和唾液酸生成情况进行研究

期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2017.04.010
Xu, Xin; Wang, Amy Q; Latham, Lea L; Celeste, Frank; Ciccone, Carla; Malicdan, May Christine; Goldspiel, Barry; Terse, Pramod; Cradock, James; Yang, Nora; Yorke, Selwyn; McKew, John C; Gahl, William A; Huizing, Marjan; Carrillo, Nuria
发表日期：2017
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Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant

矫正院中的延误诊断：由新生无义 RAI1 变异引起的史密斯-马吉尼斯综合征

期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.37602
Yeetong, Patra; Vilboux, Thierry; Ciccone, Carla; Boulier, Kristin; Schnur, Rhonda E; Gahl, William A; Huizing, Marjan; Laje, Gonzalo; Smith, Ann C M
发表日期：2016
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