Adeline Vanderver, M.D.
Professor of Neurology
Department: Neurology
Graduate Group Affiliations
Contact information
Adeline Vanderver, MD
Program Director of the Leukodystrophy Center of Excellence
Children’s Hospital of Philadelphia
Jacob A. Kamens Endowed Chair in Neurological Disorders and Translational NeuroTherapeutics
3615 Civic Center Blvd.
516H ARC
Philadelphia, PA 19104
Program Director of the Leukodystrophy Center of Excellence
Children’s Hospital of Philadelphia
Jacob A. Kamens Endowed Chair in Neurological Disorders and Translational NeuroTherapeutics
3615 Civic Center Blvd.
516H ARC
Philadelphia, PA 19104
Office: 215-590-1719
Fax: 215-590-1234
Lab: 267 514 5753
Fax: 215-590-1234
Lab: 267 514 5753
Publications
Education:
CM (Candidature en Médecine)
Facultés Universitaires Notre Dame de la Paix Namur, Belgium , 1994.
MD
Universite Catholique de Louvain Brussels, Belgium , 1998.
Permanent linkCM (Candidature en Médecine)
Facultés Universitaires Notre Dame de la Paix Namur, Belgium , 1994.
MD
Universite Catholique de Louvain Brussels, Belgium , 1998.
Selected Publications
Cesar A P F Alves 1 2, Maria Camilla Rossi-Espagnet 3, Francisco Perez 4, Amirreza Manteghinejad 5, James T Peterson 6, Rebecca Ganetzky 6 7, Antonio Napolitano 8, Francesco Grassi 8, Ibrahim George-Sankoh 6, Harun Yildiz 9, Colleen Muraresku 6 7, Marni J Falk 6 7, Diego Martinelli 10, Daniela Longo 3, Adeline Vanderver 11, Carlo Gandolfo 12 3, Russell P Saneto 13, Amy Goldstein 6 7, Arastoo Vossough 5 14: Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients. American Journal of Neuroradiology May 2025 Notes: Online ahead of printAnthony C T Cheung 1, Erminia Di Pietro 2, Catherine Argyriou 3, Eric Bareke 4, Yasmin D'Souza 2, Ratna Dua Puri 5, P Muhammed Shabeer 5, Rebecca Ganetzky 6, Amy Goldstein 6, Adeline Vanderver 7, Shruthi Mohan 8, Jacek Majewski 4, Christine Yergeau 2, Nancy Braverman 9: Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders. Mol Genet Metab. Elsevier 145(1), May 2025 Notes: 2025 May;145(1):109080. doi: 10.1016/j.ymgme.2025.109080. Epub 2025 Mar 11.
Adam Le 1, Kelly-Ann Thibault 2, Pouneh Amir Yazdani 2, Enrico Bertini 3, Francesco Nicita 3, Daniela Pohl 4, Sunita Venkateswaran 5, Stephanie Keller 6, Deborah Renaud 7, Dolores Gonzales Moron 8, Marcelo Kauffman 8, Danilo De Assis Pereira 9, Adeline Vanderver 10, Maxime Morsa 11, Geneviève Bernard 12: POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care System. Pediatric Neurology 166: 81-87, May 2025 Notes: 2025 May:166:81-87. doi: 10.1016/j.pediatrneurol.2025.02.011. Epub 2025 Feb 27.
Carlos A Dominguez Gonzalez 1, Nancy B Spinner 2, Rebecca C Ahrens-Nicklas 3, Lisa R Young 4, Laura A Voss 4, Sara L Reichert 5, Daniel J Gallo 5, Julie S Cohen 6, Joshua L Bonkowsky 7, Stephanie R Keller 8, Mariko L Bennett 9, Amy M Pizzino 9, Meghan Swantkowski 9, Kaley Arnold 9, Jamie L Fraser 10, Felicity J Emerson 11, Kelly Miettunen 11, Ali Fatemi 6, Keith P Van Haren 12, Laura Adang 13, Amy Waldman 13, Lisa Emrick 14, Florian Eichler 15, Adeline Vanderver 13: Reporting ABCD1 Variants as Actionable Secondary Findings on Exome and Genome Sequencing. Genet Med. Elsevier Inc. on behalf of American College of Medical Genetics and Genomics, April 2025.
Shanice Beerepoot 1 2 3 4, Lucas Grinwis 5 6, Adeline L Vanderver 7 8, Marjo S van der Knaap 1 2 9, Taco W Kuijpers 10 11: Tofacitinib treatment for psoriatic skin lesions associated with Aicardi-Goutières syndrome 7/Singleton-Merten syndrome 1. Orphanet Journal of Rare Diseases 6(3), April 2025 Notes: Article number: 155 (2025). 2025 Apr 2;20(1):155. doi: 10.1186/s13023-025-03675-7.
Alka Malhotra 1, Erin Thorpe 2, Alison J Coffey 3, Revathi Rajkumar 3, Josephine Adjeman 4, Naomi Dianne Naa Adjeley Adjetey 5, Sharron Aglobitse 4, Felix Allotey 6, Todor Arsov 7, Joyce Ashong 8, Ebenezer Vincent Badoe 4, Donald Basel 9, Yvonne Brew 10, Chester Brown 11, Kerri Bosfield 11, Kari Casas 12, Mario Cornejo-Olivas 13, Laura Davis-Keppen 14, Abbey Freed 15, Kate Gibson 16, Parul Jayakar 17, Marilyn C Jones 18, Martina Kawome 19, Aimé Lumaka 20, Ursula Maier 21, Prince Makay 20, Gioconda Manassero 22, Marilyn Marbell-Wilson 23, Charles Marcuccilli 24, Diane Masser-Frye 18, Julie McCarrier 9, Hannah-Sharon Mills 4, Jeny Balazar Montoya 22, Gerrye Mubungu 20, Mamy Ngole 20, Jorge Perez 25, Eniko Pivnick 11, Milagros M Duenas-Roque 26, Hildegard Pena Salguero 27, Arturo Serize 25, Marwan Shinawi 28, Fabio Sirchia 29, Claudia Soler-Alfonso 30, Alan Taylor 31, Lauren Thompson 17, Gail Vance 32, Adeline Vanderver 33, Keith Vaux 34, Danita Velasco 35, Samuel Wiafe 36; Illumina Laboratory Services Interpretation and Reporting Team 3; Ryan J Taft 2, Denise L Perry 3, Akanchha Kesari 37: Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease. HGG Advances 6(3), April 2025 Notes: 2025 Apr 7;6(3):100430. doi: 10.1016/j.xhgg.2025.100430. Online ahead of print.
Francesco Gavazzi 1, Brittany Charsar 2, Eline Hamilton 3, Jacqueline A Erler 2, Virali Patel 2, Sarah Woidill 2, Anjana Sevagamoorthy 2, Guy Helman 2, Johanna Schmidt 2, Amy Pizzino 2, Kayla Muirhead 2, Asako Takanohashi 2, Joshua L Bonkowsky 4, Kelsee Meyerhoffer 5, Cas Simons 6, Hiroshi Doi 7, Miyatake Satoko 8, Naomichi Matsumoto 8, Mauricio R Delgado 9, Meredith Sanchez-Castillo 10, Jingming Wang 11, Daniel Rocha de Carvalho 12, Ivailo Tournev 13, Teodora Chamova 14, Albena Jordanova 15, Nancy J Clegg 16, Francesco Nicita 17, Enrico Bertini 18, Michelle Teng 19, Dan Williams 19, Davide Tonduti 20, Henry Houlden 21, Menno Stellingwerff 22, Evangeline Wassmer 23, Angeles Garcia-Cazorla 24, Geneviève Bernard 25, Amytice Mirchi 26, Helia Toutounchi 26, Nicole I Wolf 27, Marjo S van der Knaap 27, Justine Shults 28, Laura A Adang 29, Adeline L Vanderver 29: The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy. Mol Genet Metab. Elsevier, 144(3), March 2025 Notes: 2025 Mar;144(3):109048. doi: 10.1016/j.ymgme.2025.109048. Epub 2025 Feb 1.
Lucas Tricoli 1, Sunetra Sase 2, Julia L Hacker 2, Vi Pham 3 4 5, Maxwell Chappell 1, Laura Breda 1, Stephanie N Hurwitz 6 7, Naoto Tanaka 1, Carlo Castruccio Castracani 1, Amaliris Guerra 1, Zhongqi Hou 2, Lars Schlotawa 8 9, Karthikeyan Radhakrishnan 10, Matthew Hogenauer 11, Aoife Roche 11, John Everett 11, Frederic Bushman 11, Peter Kurre 1 4 7, Rebecca Ahrens-Nicklas 3 4, Laura A Adang 2 12, Adeline L Vanderver 2 11, Stefano Rivella 1 4 13 14 15 16 17: Effective gene therapy for metachromatic leukodystrophy achieved with minimal lentiviral genomic integrations. Mol Ther Nucleic Acids 36(1), January 2025 Notes: 2025 Jan 25;36(1):102464. doi: 10.1016/j.omtn.2025.102464. eCollection 2025 Mar 11.
Sylvia Mutua 1, Anjana Sevagamoorthy 2, Sarah Woidill 3, Paul J Orchard 4, Francesco Gavazzi 5, Suzanne P MacFarland 6, Pierre Russo 7, Adeline Vanderver 8, Laura A Adang 9: Characterization of gallbladder disease in metachromatic leukodystrophy across the lifespan. Mol Genet Metab. Elsevier, 144(1), January 2025 Notes: 2025 Jan;144(1):109003. doi: 10.1016/j.ymgme.2024.109003. Epub 2024 Dec 22.
Tomoki T Nomakuchi 1, Eden Y Teferedegn 1, Dong Li 1, Kayla J Muirhead 2, Holly Dubbs 2, Jacqueline Leonard 1, Colleen Muraresku 1, Emily Sergio 2, Kaley Arnold 2, Amy Pizzino 2, Cara M Skraban 1 3, Elaine H Zackai 1 3, Kai Wang 1, Rebecca D Ganetzky 1 3, Adeline L Vanderver 4, Rebecca C Ahrens-Nicklas 1 3, Elizabeth J K Bhoj 1 3: Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes. Am J Med Genet A 194(12), December 2024 Notes: 2024 Dec;194(12):e63817. doi: 10.1002/ajmg.a.63817. Epub 2024 Jul 19.