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Adeline Vanderver

The Children's Hospital of Philadelphia

59H-index
390Paper Count
1.5WCitation Count
Published Papers 161
Publication Date
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Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation
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.
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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The Impact of POLR3-related Leukodystrophy on Non-Affected Family Members: A Qualitative Study
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
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 disorder
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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errSave
Data Sharing Experience, Guidance, and Resources From the Rare Diseases Clinical Research Network (RDCRN)
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
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 Severity
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
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Comprehensive Genotype-Phenotype Analysis in POLR3-Related Disorders
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
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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errSave
Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients
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.
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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.
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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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Research Directions

No research directions
Co-authors
Cooperation Journals
J
John R. Yates
H-index: 188 · Papers: 1.5K
F
Frederik Barkhof
H-index: 179 · Papers: 2.7K
J
Jean‐Laurent Casanova
H-index: 171 · Papers: 1.4K
T
Thomas Meitinger
H-index: 168 · Papers: 957
A
Alexis Brice
H-index: 153 · Papers: 1.2K
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