Faculty

Adeline Vanderver, M.D.

faculty photo
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
Office: 215-590-1719
Fax: 215-590-2220
Lab: 267 514 5753
Education:
CM (Candidature en Médecine)
Facultés Universitaires Notre Dame de la Paix Namur, Belgium , 1994.
MD
Universite Catholique de Louvain Brussels, Belgium , 1998.
Permanent link
 
> Perelman School of Medicine   > Faculty   > Details

Selected Publications

Planas-Serra L, Ruiz M, Casas J, Juli-Palacios N, Kumar MP, Maroofian R, Wigby K, Vanderver A, Garcia-Cazorla A, Pujol A: Novel biomarkers for diagnosis and treatment of DEGS1 hypomyelinating leukodystrophy-18 (HLD18). SSIEM Annual Symposium 2022

Stutterd CA, Vanderver A, Lockhart PJ, Helman G, Pope K, Uebergang E, Love C, Delatycki MB, Thorburn D, Mackay MT, Peters H, Kornberg AJ, Patel C, Rodriguez-Casero V, Waak M, Silberstein J, Sinclair A, Nolan M, Field M, Davis MR, Fahey M, Scheffer IE, Freeman JL, Wolf NI, Taft RJ, van der Knaap MS, Simons C*, Leventer RJ*. : Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services. Eur J Med Genet Jul 2022.

Alves CA, Sherbini O, D'Arco F, Steel D, Kurian MA, Clementina F, Battista Ferrero G, Carli D, Tartaglia M, Balci TB, Powell-Hamilton NN, Schrier Vergano SA, Reutter H, Hoefele J, Günthner R, Roeder ER, Littlejohn RO, Lessel D, Lüttgen S, Kentros C, Anyane-Yeboa K, Catarino CB, Mercimek-Andrews S, Martinez-Agosto JA, Denecke J, Lyons MJ, Klopstock T, Bhoj EJ, Bryant L, Vanderver A: Cranial Abnormalities in Patients Harboring Germline Variants in Histone 3 Family 3A and 3B: Novel Imaging Findings Beyond Somatic Variants and Brain Tumors. American Journal of Neuroradiology Jun 2022.

van der Knaap MS, Bonkowsky JL, Vanderver A, Schiffmann R, Krägeloh-Mann I, Bertini E, Bernard G, Fatemi A, Wolf NI, Saunier-Vivar E, Rauner R, Dekker H, van Bokhoven P, van de Ven P, Leferink PS: Efficacy of baricitinib on chronic pericardial effusion in a patient with Aicardi-Goutières syndrome. Rheumatology Apr 2022.

van der Knaap MS, Bonkowsky JL, Vanderver A, Schiffmann R, Krägeloh-Mann I, Bertini E, Bernard G, Fatemi A, Wolf NI, Saunier-Vivar E, Rauner R, Dekker H, van Bokhoven P, van de Ven P, Leferink PS: Therapy trial design in vanishing white matter, an expert consortium opinion. Neurology: Genetics Apr 2022.

Calame DG, Herman I, Marshall AE, Maroofian R, Donis KC, Fatih JM, Mitani T, Du H, Grochowski CM, Sousa S, Ito YA, Rocca C, Hunter JV, Sutton VR, Emrick LT, Boycott KM, Lossos A, Fellig Y, Prus E, Kalish Y, Meiner V, Suerink M, Ruivenkamp C, Muirhead K, Saadi NW, Zaki MS, Bouman A, Barakat TS, Skidmore DL, Osmond M, Silva TO, Houlden H, Murphy D, Karimiani EG, Jamshidi Y, Jaddoa AG, Tajsharghi H, Jin SC, Abbaszadegan MR, Ebrahimzadeh-Vesal R, Hosseini S, Alavi S, Bahreini A, Zarean E, Salehi MM, Robson S, Coban-Akdemir Z, Travaglini L, Nicita F, Jhangiani SN, Gibbs RA, Posey JE, Kruer MC, Kernohan KD, Morales Saute JA, Vanderver A, Pehlivan D, Marafi D, Lupski JR: Biallelic variants in the ectonucleotidase ENTPD1 cause a complex neurodevelopmental disorder with intellectual disability, distinct white matter abnormalities, and spastic paraplegia. Annals of Neurology Apr 2022.

Gedik KC, Lamot L, Romano M, Demirkaya E, Piskin D, Torreggiani S, Adang LA, Armangue T, Barchus K, Cordova DR, Crow YJ, Dale RC, Durrant KL, Eleftheriou D, Fazzi EM, Gattorno M, Gavazzi F, Hanson EP, Lee-Kirsch MA, Montealegre Sanchez GA, Neven B, Orcesi S, Ozen S, Poli MC, Schumacher E, Tonduti D, Uss K, Aletaha D, Feldman BM, Vanderver A, Brogan PA, Goldbach-Mansky R: The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS. Arthritis Rheumatol Mar 2022.

Husain R, Vanderver A: Expanded phenotype of AARS1-related white matter disease. Response to Leidi et al. Genetics in Medicine Feb 2022.

Alves CA, Bhoj EJ, Sherbini O, Bryant L, Vanderver A: Malformative Features of the Brain in Histone 3 Family 3A and 3B Germline Mutations: Novel Imaging Findings Beyond Somatic Mutations and Brain Tumors. 4th  American Society of Pediatric Neuroradiology (ASPNR) Annual Meeting, Miami Beach, Florida January 2022.

Macintosh J, Derksen A, Poulin C, Braverman N, Vanderver A, Thiffault I, Albrecht S, Bernard G: Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications and neurodegeneration. Neurogenetics Jan 2022.

back to top
Last updated: 07/18/2022
The Trustees of the University of Pennsylvania