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Adeline Vanderver

The Children's Hospital of Philadelphia

59H指数
390论文数
1.5W被引数
收录论文 161
发表时间
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Movement Disorders in Aicardi–Goutières Syndrome and Response to ImmunomodulationAicardi–Goutières 综合征的运动障碍及对免疫调节的响应
errAnnals of Clinical and Translational Neurology
IF3.9
err2026-04-25
err0
errOAAI
errEnrique Gonzalez Saez-Diez; Monica Ferrer Socorro; Kathryn Yang; Nicole Battaglia; Zainab Zaman; Mariko Bennett; Adeline Vanderver; Pui Y. Lee; Lauren A. Henderson; Milena M. Andzelm; Darius Ebrahimi-Fakhari
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Therapeutic suppression of Tubb4a rescues H-ABC leukodystrophy.Tubb4a的治疗性抑制可挽救H-ABC白质营养不良。
errMolecular Therapy
IF12
err2026-01-20
err0
PREAI
errSunetra Sase; Julia L. Hacker; Prabhat R. Napit; Anjali Bhagavatula; Sarah Woidill; Annemarie D’Alessandro; Marisa A. Jeffries; Akshata Almad; Asako Takanohashi; Quasar S. Padiath; Judith B. Grinspan; Eric D. Marsh; Adeline Vanderver
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Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease
errANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
err2026-01-01
err0
errOAAI
errWaldman, Amy T.; Takanohashi, Asako; Joung, Joshua Y.; Liu, Geraldine W.; Arnold, Kaley; Pizzino, Amy; Faig, Walter; Woidill, Sarah; Narula, Sona; Vanderver, Adeline L.
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err收藏
The Impact of POLR3-related Leukodystrophy on Non-Affected Family Members: A Qualitative StudyPOLR3相关脑白质营养不良对未受影响的家庭成员的影响：一项定性研究
errPediatric Neurology
IF2.1
err2025-12-16
err0
errOAAI
errAdam Le; Kelly-Ann Thibault; Pouneh Amir Yazdani; Alexandra Chapleau; Romy J. van Voorst; Enrico Bertini; Francesco Nicita; Daniela Pohl; Sunita Venkateswaran; Stephanie Keller; Deborah Renaud; Dolores Gonzalez Moron; Marcelo Kauffman; Danilo De Assis Pereira; Adeline Vanderver; Marjo S. van der Knaap; Maxime Morsa; Geneviève Bernard
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Critical functional domains in pediatric onset TUBB4A-related leukodystrophy: a clinical and caregiver’s perspective儿童期发病的TUBB4A相关白质脑病的核心功能域：临床与照护者视角
errPediatric Neurology
IF2.1
err2025-10-03
err0
PREAI
errFrancesco Gavazzi; Virali Patel; Jacqueline A. Erler; Brittany Charsar; Ylenia Vaia; Anjana Sevagamoorthy; Ariel Vincent; Sarah Woidill; Evangeline Wassmer; Henry Houlden; Angeles Garcia- Cazorla; Davide Tonduti; Nicole I. Wolf; Marjo Van der Knaap; Geneviève Bernard; Laura A. Adang; Adeline Vanderver
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Biallelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorderBCAT1基因的等位基因变异会损害线粒体功能，并与一种候选神经代谢性疾病相关联。
errHuman Genetics and Genomics Advances
IF3.6
err2025-09-29
err0
errOAAI
errBrianna L. DiSanza; Giulia S. Porcari; Livia Sertori Finoti; Leonardo Ramos-Rodriguez; Devin M. Burris; Justin A. McDonough; Gang Ning; Grace Fagan; Guy T. Helman; Erin Weiss; Ryan J. Taft; Amy Pizzino; Matthew T. Whitehead; Amy Waldman; Cas Simons; Xilma Ortiz-Gonzalez; William C. Skarnes; Adeline Vanderver; Elizabeth J. Bhoj; Rebecca C. Ahrens-Nicklas
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Data Sharing Experience, Guidance, and Resources From the Rare Diseases Clinical Research Network (RDCRN)罕见病临床研究网络（RDCRN）的数据共享经验、指南与资源
errClinical and Translational Science
IF2.8
err2025-09-02
err0
errOAAI
errElaine Schwendeman; Henry J. Kaminski; Adeline Vanderver; Michael Wagner; Eileen King; The RDCRN Data Use & Data Sharing Committee; Maurizio Macaluso
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The impact of vanishing white matter on unaffected family members弥漫性白质萎缩对未受影响家庭成员的影响
errOrphanet Journal of Rare Diseases
IF3.5
err2025-08-28
err0
errOAAI
errRomy J. van Voorst; Daphne H. Schoenmakers; Irene van Beelen; Francesco Gavazzi; Alexandra Chapleau; Adeline Vanderver; Geneviève Bernard; Ingeborg Krägeloh-Mann; Marjo S. van der Knaap
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Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease SeverityAicardi-Goutières综合征患者（RNASEH2B基因p.Ala177Thr变异纯合子）的多中心国际队列的临床特征：疾病严重程度的早期临床标志物
errPediatric Neurology
IF2.1
err2025-07-25
err0
errOAAI
errCostanza Varesio; Davide Politano; Laura Adang; Elena Ballante; Roberta Battini; Enrico Bertini; Renato Borgatti; Valentina De Giorgis; Annamaria Del Boca; Francesca Dragoni; Elisa Fazzi; Jessica Galli; Jessica Garau; Francesco Gavazzi; Alice Gardani; Roberta La Piana; Isabella Moroni; Francesco Nicita; Anna Pichiecchio; Antonella Pini; Federica Ricci; Stefano Sartori; Davide Tonduti; Adeline Vanderver; Simona Orcesi
err分享
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Comprehensive Genotype-Phenotype Analysis in POLR3-Related DisordersPOLR3相关疾病的全面基因型-表型分析
errHuman Genetics and Genomics Advances
IF3.6
err2025-07-18
err0
errOAAI
errMackenzie A. Michell-Robinson; Stefanie Perrier; Samuel Gauthier; Alexa Derksen; Quentin Sabbagh; Mathias Girbig; Agata D. Misiaszek; Amy M. Pizzino; Deborah L. Renaud; Danilo De Assis Pereira; Paola Okuda; Luciana Maestri Karoleska; Stephanie Keller; Karen Chong; Laurence Gauquelin; Bernard Brais; Barbara Leube; Tiffany Grider; Michael E. Shy; Rebecca Schüle; Martina Minnerop; Enrico Bertini; Francesco Nicita; Davide Tonduti; Christoph W. Müller; Adeline Vanderver; Nicole I. Wolf; Geneviève Bernard
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Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing将ABCD1基因变异作为可操作的次级发现报告在全外显子组和全基因组测序中
errGENETICS IN MEDICINE
IF6.2
err2025-07-01
err0
PREAI
errGonzalez, Carlos A. Dominguez; Spinner, Nancy B.; Ahrens-Nicklas, Rebecca C.; Young, Lisa R.; Voss, Laura A.; Reichert, Sara L.; Gallo, Daniel J.; Cohen, Julie S.; Bonkowsky, Joshua L.; Keller, Stephanie R.; Bennett, Mariko L.; Pizzino, Amy M.; Swantkowski, Meghan; Arnold, Kaley; Fraser, Jamie L.; Emerson, Felicity J.; Miettunen, Kelly; Fatemi, Ali; Haren, Keith P. Van; Adang, Laura; Waldman, Amy; Emrick, Lisa; Eichler, Florian; Vanderver, Adeline
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Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients单一大规模线粒体缺失综合征：儿科患者的神经影像表型及纵向进展
errAMERICAN JOURNAL OF NEURORADIOLOGY
IF3.7
err2025-04-10
err0
PREAI
errAlves, CAPF; Rossi-Espagnet, MC; Perez, F; Manteghinejad, A; Peterson, JT; Ganetzky, R; Napolitano, A; Grassi, F; George-Sankoh, I; Yildiz, H; Muraresku, C; Falk, MJ; Martinelli, D; Longo, D; Vanderver, A; Gandolfo, C; Saneto, RP; Goldstein, A; Vossough, A
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Tofacitinib treatment for psoriatic skin lesions associated with Aicardi-Goutières syndrome 7/Singleton-Merten syndrome 1
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2025-04-02
err0
errOAAI
errBeerepoot, Shanice; Grinwis, Lucas; Vanderver, Adeline L.; van der Knaap, Marjo S.; Kuijpers, Taco W.
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Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-03-01
err0
PREAI
errCheung, Anthony C. T.; Di Pietro, Erminia; Argyriou, Catherine; Bareke, Eric; D'Souza, Yasmin; Puri, Ratna Dua; Shabeer, P. Muhammed; Ganetzky, Rebecca; Goldstein, Amy; Vanderver, Adeline; Mohan, Shruthi; Majewski, Jacek; Yergeau, Christine; Braverman, Nancy
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Effective gene therapy for metachromatic leukodystrophy achieved with minimal lentiviral genomic integrations
errMOLECULAR THERAPY NUCLEIC ACIDS
IF6.1
err2025-03-01
err0
errOAAI
errTricoli, Lucas; Sase, Sunetra; Hacker, Julia L.; Pham, Vi; Chappell, Maxwell; Breda, Laura; Hurwitz, Stephanie N.; Tanaka, Naoto; Castracani, Carlo Castruccio; Guerra, Amaliris; Hou, Zhongqi; Schlotawa, Lars; Radhakrishnan, Karthikeyan; Hogenauer, Matthew; Roche, Aoife; Everett, John; Bushman, Frederic; Kurre, Peter; Ahrens-Nicklas, Rebecca; Adang, Laura A.; Vanderver, Adeline L.; Rivella, Stefano
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The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-03-01
err0
PREAI
errGavazzi, Francesco; Charsar, Brittany; Hamilton, Eline; Erler, Jacqueline A.; Patel, Virali; Woidill, Sarah; Sevagamoorthy, Anjana; Helman, Guy; Schmidt, Johanna; Pizzino, Amy; Muirhead, Kayla; Takanohashi, Asako; Bonkowsky, Joshua L.; Meyerhoffer, Kelsee; Simons, Cas; Doi, Hiroshi; Satoko, Miyatake; Matsumoto, Naomichi; Delgado, Mauricio R.; Sanchez-Castillo, Meredith; Wang, Jingming; de Carvalho, Daniel Rocha; Tournev, Ivailo; Chamova, Teodora; Jordanova, Albena; Clegg, Nancy J.; Nicita, Francesco; Bertini, Enrico; Teng, Michelle; Williams, Dan; Tonduti, Davide; Houlden, Henry; Stellingwerff, Menno; Wassmer, Evangeline; Garcia-Cazorla, Angeles; Bernard, Genevieve; Mirchi, Amytice; Toutounchi, Helia; Wolf, Nicole I.; van der Knaap, Marjo S.; Shults, Justine; Adang, Laura A.; Vanderver, Adeline L.
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POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care System
errPEDIATRIC NEUROLOGY
IF2.1
err2025-02-01
err0
errOAAI
errLe, Adam; Thibault, Kelly-Ann; Yazdani, Pouneh Amir; Bertini, Enrico; Nicita, Francesco; Pohl, Daniela; Venkateswaran, Sunita; Keller, Stephanie; Renaud, Deborah; Moron, Dolores Gonzales; Kauffman, Marcelo; Pereira, Danilo De Assis; Vanderver, Adeline; Morsa, Maxime; Bernard, Genevie
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Characterization of gallbladder disease in metachromatic leukodystrophy across the lifespan
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-01-01
err0
PREAI
errMutua, Sylvia; Sevagamoorthy, Anjana; Woidill, Sarah; Orchard, Paul J.; Gavazzi, Francesco; Macfarland, Suzanne P.; Russo, Pierre; Vanderver, Adeline; Adang, Laura A.
err分享
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The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench
errIMMUNOLOGICAL REVIEWS
IF8.3
err2024-10-29
err0
errOAAI
errHofer, Markus J.; Modesti, Nicholson; Coufal, Nicole G.; Wang, Qingde; Sase, Sunetra; Miner, Jonathan J.; Vanderver, Adeline; Bennett, Mariko L.
err分享
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Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy
errNEUROLOGY-GENETICS
IF3.7
err2024-10-01
err2
errOAAI
errKornbluh, Alexandra B.; Baldwin, Aaron; Fatemi, Ali; Vanderver, Adeline; Adang, Laura A.; Van Haren, Keith; Sampson, Jacinda; Eichler, Florian S.; Sadjadi, Reza; Engelen, Marc; Orthmann-Murphy, Jennifer L.
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研究方向

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合作学者
合作期刊
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