Adeline Vanderver, M.D.

faculty photo
Professor of Neurology
Department: Neurology

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.
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Selected Publications

Almad A, Garcia L, Sase S, Boecker A, Scherer A, Vanderver A.: Impact of Tubb4a mutations on neuronal and oligodendrocyte health. Glia in Health and Disease, Cold Spring Harbor July 2020.

Sase S, Hacker J, Almad A, Takanohashi A, Padiath Q, and Vanderver A. : Germline and Therapeutic Suppression of Tubb4a rescues H-ABC associated leukodystrophy. Glia in Health and Disease, Cold Spring Harbor July 2020.

Schmidt JL, Pizzino A, Nicoll J, Foley A, Wang Y, Rosenfeld JA, Mighion L, Bean L, da Silva C, Cho MR, Truty R, Garcia J, Speare V, Blanco K, Powis Z, Hobson GM, Kirwin S, Krock B, Lee H, Deignan JL, Westemeyer MA, Subaran RL, Thiffault I, Tsai EA, Fang T, Helman G, Vanderver A: Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next generation sequencing. Am J Med Genet A. June 2020.

Adang LA, Gavazzi F, Jawad AF, Cusack SV, Kopin K, Peer K, Besnier C, De Simone M, De Giorgis V, Orcesi S, Fazzi E, Galli J, Shults J, Vanderver A: Development of a neurologic severity scale for Aicardi Goutières Syndrome. Mol Genet Metab 130(2): 153-160, June 2020.

Dutta D, Briere LC, Kanca O, Marcogliese PC, Walker MA, High FA, Vanderver A, Vögtle FN, Krier J, Carmichael N, Callahan C, Taft RJ, Simons C, Helman G, The Undiagnosed Diseases Network, Wangler M, Yamamoto S, Sweetser DA, Bellen HJ: De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Hum Mol Genet. 29(9): 1568-1579, June 2020.

Sase S, Almad A, Boecker CA, Guedes-Dias P, Li J, Takanohashi A, Patel A, McCaffrey T, Patel H, Sirdeshpande D, Curiel J, Liu J, Padiath Q, Holzbaur ELF, Scherer SS, Vanderver A.: TUBB4A mutations cause altered microtubule dynamics and combined glial and neuronal degeneration in an H-ABC leukodystrophy mouse model. Elife 9, May 2020.

Vanderver A, Bernard G, Helman G, Sherbini O, Boeck R, Cohn J, Collins A, Demarest S, Dobbins K, Emrick L, Fraser J, Masser-Frye D, Hayward J, Karmarkar S, Keller S, Mirrop S, Mitchell W, Pathak S, Sherr E, van Haren K, Waters E, Wilson JL, Zhorne L, Schiffmann R, van der Knaap MD, Pizzino A, Dubbs H, Shults J, Simons C, Taft RJ: Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders. Ann Neurol. April 2020.

Lewis H, Samanta D, Örsell JL, Bosanko KA, Rowell A, Jones M, Dale R, Taravath S, Hahn C, Krishnakumar D, Chagnon S, Keller S, Hagebeuk E, Pathak S, Bebin M, Arndt DH, Alexander J, Mainali G, Coppola G, Maclean J, Sparagana S, McNamara N, Smith DM, Raggio V, Cruz M, Pierson TM, Fernández-Jaén A, Kava MP, Emrick L, Fish JL, Vanderver A, Helman G, Zarate YA: Epilepsy and electroencephalographic abnormalities in SATB2-associated syndrome (SAS). Pediatr Neurol Page: 30122-3, April 2020.

Armangue T, Olivé G, Martinez E, Sepulveda M, Ruiz G, Arrambide G, Acosta CA, Tintore M, Montalban X, Graus F, Saiz A, Dalmau J. : Investigations On Myelin Oligodendrocyte Glycoprotein Autoimmunity In Children. American Academy of Neurology Annual Meeting, Toronto, ON, Canada April 2020.

Briere LC, Dutta D, Marcogliese PC, Kanca O, Walker MA, High FA, Vanderver A, Krier J, Carmichael N, Taft R, Simons C, Helman G, The Undiagnosed Diseases Network, Wangler M, Yamamoto S, Sweetser DA, Bellen HJ.: De novo Mutations in TOMM70, an Outer Mitochondrial Membrane Translocase Subunit, Causes Developmental Delay and Neurological Phenotypes. American College of Medical Genetics and Genomics Annual Meeting, San Antonio, TX March 2020.

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Last updated: 08/12/2020
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