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

Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis

对94例Joubert综合征患者体格检查特征的系统分析：诊断的关键

期刊:American Journal of Medical Genetics Part C-Seminars in Medical Genetics
影响因子:4.4
doi:10.1002/ajmg.c.31966
Forsyth, RaeLynn; Parisi, Melissa A; Altintas, Burak; Malicdan, May Christine; Vilboux, Thierry; Knoll, Jasmine; Brooks, Brian P; Zein, Wadih M; Gahl, William A; Toro, Camilo; Gunay-Aygun, Meral
发表日期：2022
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Studying the urine microbiome in superficial bladder cancer: samples obtained by midstream voiding versus cystoscopy

研究浅表性膀胱癌患者的尿液微生物组：中段排尿与膀胱镜检查获取的样本比较

期刊:BMC Urology
影响因子:1.9
doi:10.1186/s12894-020-0576-z
Hourigan, Suchitra K; Zhu, Wei; S W Wong, Wendy; Clemency, Nicole C; Provenzano, Marina; Vilboux, Thierry; Niederhuber, John E; Deeken, John; Chung, Simon; McDaniel-Wiley, Kim; Trump, Donald
微生物学
肿瘤
肿瘤免疫
膀胱癌
发表日期：2020
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Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause

对一般健康人群队列进行基因型优先分析，支持采用基因检测诊断病因不明的遗传性血管性水肿。

期刊:Allergy Asthma and Clinical Immunology
影响因子:2.4
doi:10.1186/s13223-019-0346-1
Bodian, Dale L; Vilboux, Thierry; Hauser, Natalie S
发表日期：2019
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Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center

Joubert综合征：单中心前瞻性评估的99例患者的眼科检查结果与基因型和肝肾疾病的相关性

期刊:Ophthalmology
影响因子:9.5
doi:10.1016/j.ophtha.2018.05.026
Brooks, Brian P; Zein, Wadih M; Thompson, Amy H; Mokhtarzadeh, Maryam; Doherty, Daniel A; Parisi, Melissa; Glass, Ian A; Malicdan, May C; Vilboux, Thierry; Vemulapalli, Meghana; Mullikin, James C; Gahl, William A; Gunay-Aygun, Meral
发表日期：2018
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A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency

辅酶Q10生物合成途径的一种新型先天性缺陷：由COQ5 C-甲基转移酶缺乏引起的共济失调和静止性脑肌病

期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.23345
Malicdan, May Christine V; Vilboux, Thierry; Ben-Zeev, Bruria; Guo, Jennifer; Eliyahu, Aviva; Pode-Shakked, Ben; Dori, Amir; Kakani, Sravan; Chandrasekharappa, Settara C; Ferreira, Carlos R; Shelestovich, Natalia; Marek-Yagel, Dina; Pri-Chen, Hadass; Blatt, Ilan; Niederhuber, John E; He, Langping; Toro, Camilo; Taylor, Robert W; Deeken, John; Yardeni, Tal; Wallace, Douglas C; Gahl, William A; Anikster, Yair
神经科学
发表日期：2018
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Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center

单中心前瞻性评估100例Joubert综合征患者的肝病特征

期刊:Journal of Pediatric Gastroenterology and Nutrition
影响因子:2.6
doi:10.1097/MPG.0000000000001816
Strongin, Anna; Heller, Theo; Doherty, Dan; Glass, Ian A; Parisi, Melissa A; Bryant, Joy; Choyke, Peter; Turkbey, Baris; Daryanani, Kailash; Yildirimli, Deniz; Vemulapalli, Meghana; Mullikin, Jim C; Malicdan, May C; Vilboux, Thierry; Gahl, William A; Gunay-Aygun, Meral
发表日期：2018
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Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures

一名患有早发性癫痫的男孩，其 CDKL5 基因的另一种转录本发生突变

期刊:Cold Spring Harbor Molecular Case Studies
影响因子:1.8
doi:10.1101/mcs.a002360
Bodian, Dale L; Schreiber, John M; Vilboux, Thierry; Khromykh, Alina; Hauser, Natalie S
癫痫
神经科学
发表日期：2018
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Prospective Evaluation of Kidney Disease in Joubert Syndrome

Joubert综合征肾脏疾病的前瞻性评估

期刊:Clinical Journal of the American Society of Nephrology
影响因子:7.1
doi:10.2215/CJN.05660517
Fleming, Leah R; Doherty, Daniel A; Parisi, Melissa A; Glass, Ian A; Bryant, Joy; Fischer, Roxanne; Turkbey, Baris; Choyke, Peter; Daryanani, Kailash; Vemulapalli, Meghana; Mullikin, James C; Malicdan, May Christine; Vilboux, Thierry; Sayer, John A; Gahl, William A; Gunay-Aygun, Meral
发表日期：2017
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Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center

前瞻性单中心评估的100例Joubert综合征及相关疾病患者的分子遗传学发现和临床相关性

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/gim.2016.204
Vilboux, Thierry; Doherty, Daniel A; Glass, Ian A; Parisi, Melissa A; Phelps, Ian G; Cullinane, Andrew R; Zein, Wadih; Brooks, Brian P; Heller, Theo; Soldatos, Ariane; Oden, Neal L; Yildirimli, Deniz; Vemulapalli, Meghana; Mullikin, James C; Nisc Comparative Sequencing Program; Malicdan, May Christine V; Gahl, William A; Gunay-Aygun, Meral
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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