Adeline Vanderver, MD

Adeline Vanderver, MD

Adeline Vanderver, MD, is an Attending Physician in the Division of Neurology, Program Director of the Leukodystrophy Center, and Jacob A. Kamens Endowed Chair in Neurologic Disorders and Translational Neurotherapeutics at Children's Hospital of Philadelphia.

Areas of Expertise: Leukodystrophy
Locations: Main Campus
Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)

Background

Adeline Vanderver, MD, is an Attending Physician in the Division of Neurology at Children’s Hospital of Philadelphia (CHOP) and the Jacob A. Kamens Endowed Chair in Neurologic Disorders and Translational Neurotherapeutics. She is also Program Director of the Leukodystrophy Center of Excellence at CHOP.

Leukodystrophies are a group of inherited degenerative diseases that affect the white matter in the brain and spinal cord. Currently, leukodystrophies include about 30 disorders, and scientists estimate they occur in 1 in 7,000 births. Dr. Vanderver has focused on these diseases throughout her career, and previously helped to identify the genetic causes of a number of leukodystrophies using next generation sequencing.

Under Dr. Vanderver’s leadership, the multidisciplinary Leukodystrophy Center team is focused on creating new standards of care for children with leukodystrophies by advancing leukodystrophy gene discovery, creating new therapies, and supporting and advocating for patients and their families.

In parallel with this strong clinical program, Dr. Vanderver’s preclinical and clinical research projects will aim to discover molecular therapeutics that target the genetics of leukodystrophy subtypes.

Already, Dr. Vanderver is leading two clinical studies that intend to repurpose medications — one that is currently used to treat human immunodeficiency virus (HIV) and another that targets interferon — for patients with Aicardi-Goutieres syndrome. Another clinical trial underway is assessing the efficacy and utility of whole genome sequencing as a first-line diagnostic test for leukodystrophies.

In addition to her clinical and research efforts, Dr. Vanderver leads the Global Leukodystrophy Initiative, an advocacy group that includes parents, clinicians and researchers, to raise disease awareness and ensure that patients receive appropriate social and medical support.

Dr. Vanderver graduated with a degree in medicine from Universite Catholique de Louvain in Brussels, Belgium. She completed her residency in pediatrics at Nemours/A.I. duPont Hospital for Children in Wilmington, DE, and Thomas Jefferson University in Philadelphia, PA. She then pursued a child neurology fellowship at Children's National Medical Center in Washington, DC, and a fellowship in biochemical genetics at the National Human Genome Research Institute/National Institutes of Health in Bethesda, MD.

Education and Training

Medical School

MD - Universite Catholique de Louvain Brussels, Belgium

Internship

Transitional Year - Frankford Hospital, Temple University, Philadelphia, PA

Residency

Pediatrics - A.I. duPont Hospital for Children, Wilmington, DE, and Thomas Jefferson University, Philadelphia, PA

Fellowship

Child Neurology - Children's National Medical Center, Washington, DC
Biochemical Genetics - National Human Genome Research Institute/National Institutes of Health, Bethesda, MD

Board Certification

Biochemical Genetics
Child Neurology
Neurology
Pediatrics

Titles and Academic Titles

Attending Physician

Program Director, Leukodystrophy Center of Excellence

Jacob A. Kamens Endowed Chair in Neurologic Disorders and Translational Neurotherapeutics

Associate Professor of Neurology, Perelman School of Medicine at the University of Pennsylvania

Departments and Services

Publications

Papers

2017

Vrij-van den Bos S, Hol JA, La Piana R, Harting I, Vanderver A, Barkhof F, Cayami F, van Wieringen WN, Pouwels PJW, van der Knaap MS, Bernard G, Wolf NI.  4H leukodystrophy: a brain MRI scoring system. Neuropediatrics. 2017 Mar 1. PMID: 28249300

Tavasoli AR, Armangue T, Ho C, Whitehead MT, Bornhorst M, Rhee J, Hwang EI, Wells EM, Packer J, van der Knaap MS, Bugiani M, Vanderver A. Alexander disease: A leukodystrophy that may mimic brain tumor. Journal of Child Neurology J Child Neurol. 2017 Feb;32(2):184-187. PMID: 28112050

Ulrick N, Goldstein A, Simons C, Taft RJ, Helman G, Pizzino A, Bloom M, Vogt J, Pysden K, Diodato D, Martinelli D, Monavari A, Buhas D, van Karnebeek CDM,  Dorboz I, Boespflug-Tanguy O, Rodriguez D, Tétreault M, Majewski J, Bernard G, Care4Rare Canada Consortium, McFarland R, Vanderver A, RMND1 related Leukoencephalopathy with temporal lobe cysts and hearing loss – another Mendelian mimicker of congenital CMV infection. Pediatric Pediatr Neurol. 2017 Jan; 66:59-62. PMID: 27843092

2016

Kevelam SH, Steenweg ME, Srivastava S, Helman G, Naidu S, Schiffmann R, Blaser S, Vanderver A, Wolf NI, van der Knaap MS Update on leukodystrophies: A Historical Perspective and Adapted Definition., Neuropediatrics. 2016 Dec. 47(6):349-354. PMID: 27564080

Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar S, O’Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes RRC, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CEG, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap, MS, Livingston JH, O’Keefe RT, Crow YJ. Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts, Nat Genet. 2016 Oct. 48(10):1185-92. PMID: 27571260

Ferdinandusse S, Falkenberg KD, Koster J, Mooyer PA, Jones R, van Roermund CWT, Pizzino A, Schrader M, Wanders RJA, Vanderver A, Waterham HR. ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism. Journal of Medical Genetics, J Med Genet. 2016 Oct 31. PMID: 27799409

Ng YS, Alston CS, Diodato D, Ulrick N, Haghighi A, SKmoch S, Houstek J, Martinelli D, Saikat D, Ragge N, Monavari A, Pysden K, Raven K, Casey J, Khan A, Chakrapani A, Vasallo G, O’Sullivan S, Childs AM, t Østergaard E, Simons C, Vanderver A, Goldstein A, Vogt J, Taylor RW, McFarland R, The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. J Med Genet. 2016 Jul 13, PMID:27412952

Meisler MH*, Helman G*, Hammer MF, Fureman BE, Gaillard WG, Goldin AL, Hirose S, Ishii A, Kroner BL, Lossin C, Mefford HC, Parent JM, Patel M, Schreiber J, Stewart R, Whittemore V, Wilcox K, Wagnon JL, Pearl PL, Vanderver A*, Scheffer IE*. SCN8A Encephalopathy: Research Progress and Prospects, Epilepsia, 2016 Jun 8. PMID: 27270488

La Piana R, Cayami FK, Tran LT, Guerrero K, Vervenne R, Ounap K, Pajusalu S, Haack TB, Wassmer E, Timmann D, Mierzewska H, Poll-The BT, Patel C, Cox H, Atik T, Onay H, Ozkınay F, Vanderver A, van der Knaap MS, Wolf NI, Bernard G. Diffuse hypomyelination is not obligate for POLR3-related disorders, Neurology. 2016 Apr 26;86(17):1622-6. PMID: 27029625

Vanderver A, Simons C, Helman G, Crawford J, Wolf NI, Bernard G, Pizzino A, Schmidt JL, Takanohashi A, Miller D, Khouzam A, Rajan V, Ramos E, Chowdhury S, Hambuch T, Ru K, Baillie GJ, Grimmond SM, Caldovic L, Devaney J, Bloom M, Evans SH, Murphy JLP, McNeill N, Gropman AL, Rosser T, Pearl PL, Fung E,  Parikh S, Cohen BH, Reggin JD, Yalcinkaya C, Shafrir Y, DiFazio M, Freilich E, Lourenco CM, Tesi-Rocha C, Fogel BL, Desai J, Amartino H, Weaver KN,  Long V, Gambello MJ, Cirillo ML,  Kahn I, Gill D,  Gieron M, de Los Reyes E, Schiffmann R, van der Knaap MS, Taft RJ. (2015) Whole exome sequencing in a cohort of patients with unresolved central nervous system white matter abnormalities.  Ann Neurol. 2016 Jun;79(6):1031-7. PMID: 27159321

Helman, G, Bonkowsky J, Vanderver A. Neurologist Comfort in the Use of Next-Generation Sequencing Diagnostics: Current State and Future Prospects , JAMA Neurol. 2016 Jun 1;73(6):621-2. PMID: 27043427

Dallabona C. Abbink TEM, Carrozzo R, Torraco A, Legati A, van Berkel, CGM, Niceta M, Langella T, Verrigni D, Rizza T,  Diodato D,  Piemonte F, Lamantea E, Fang M, Zhang J, Martinelli D, Bevivino E,  Dionisi-Vici C, Vanderver A, Philip SG, Kurian M, Verma IC, Bijarnia-Mahay S, Jacinto S, Furtado F, Accorsi P, Ardissone A, Moroni I, Ferrero I1,  Tartaglia M,  Goffrini P,  Ghezzi D,  van der Knaap MS, Bertini E,  LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with a distinct MRI pattern, Brain. 2016 Mar;139(Pt 3):782-94. PMID 26912632

La Piana Roberta, Uggetti Carla, Roncarolo Federico, Vanderver Adeline, Olivieri Ivana, Tonduti Davide, Helman Guy, Balottin Umberto, Fazzi Elisa, Crow Yanick J, Livingston John, Orcesi Simona: Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome. Neurology 86(1): 28-35, Jan 2016.

2015

Hendriksz CJ, , Muenzer, J, Vanderver A, Davis JM, Burton BK, Mendelsohn, NJ, Wang N, Pan L, Pano A Barbier AJ: Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment. Mol Genet Metab 5: 103-106, 2015.

Cuadrado Eloy, Booiman Thijs, van Hamme John L, Jansen Machiel H, van Dort Karel A, Vanderver Adeline, Rice Gillian I, Crow Yanick J, Kootstra Neeltje A, Kuijpers Taco W: ADAR1 Facilitates HIV-1 Replication in Primary CD4+ T Cells. PloS one 10(12): e0143613, 2015.

Richards Jackson, Korgenski E Kent, Taft Ryan J, Vanderver Adeline, Bonkowsky Joshua L: Targeted leukodystrophy diagnosis based on charges and yields for testing. American journal of medical genetics. Part A 167A(11): 2541-3, Nov 2015.

Jany Paige L, Agosta Guillermo E, Benko William S, Eickhoff Jens C, Keller Stephanie R, Köehler Wolfgang, Koeller David, Mar Soe, Naidu Sakkubai, Marie Ness Jayne, Pareyson Davide, Renaud Deborah L, Salsano Ettore, Schiffmann Raphael, Simon Julie, Vanderver Adeline, Eichler Florian, van der Knaap Marjo S, Messing Albee: CSF and Blood Levels of GFAP in Alexander Disease(1,2,3). eNeuro 2(5): doi: 10.1523/ENEURO.0080-15.2015, Oct 2015.

Hendriksz CJ, , Muenzer, J, Vanderver A, Davis JM, Burton BK, Mendelsohn, NJ, Wang N, Pan L, Pano A Barbier AJ: Cerebrospinal fluid and blood levels of GFAP in Alexander disease. eNeuro 2(5): pii: ENEURO.0080-15.2015, Oct 2015 Notes: doi: 10.1523/ENEURO.0080-15.2015. eCollection 2015.

Cuadrado Eloy, Vanderver Adeline, Brown Kristy J, Sandza Annie, Takanohashi Asako, Jansen Machiel H, Anink Jasper, Herron Brian, Orcesi Simona, Olivieri Ivana, Rice Gillian I, Aronica Eleonora, Lebon Pierre, Crow Yanick J, Hol Elly M, Kuijpers Taco W: Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies. Annals of the rheumatic diseases 74(10): 1931-9, Oct 2015.

Vanderver Adeline, Prust Morgan, Kadom Nadja, Demarest Scott, Crow Yanick J, Helman Guy, Orcesi Simona, La Piana Roberta, Uggetti Carla, Wang Jichuan, Gordisch-Dressman Heather, van der Knaap Marjo S, Livingston John H: Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition. Journal of child neurology 30(10): 1343-8, Sep 2015.

Thiffault Isabelle, Wolf Nicole I, Forget Diane, Guerrero Kether, Tran Luan T, Choquet Karine, Lavallée-Adam Mathieu, Poitras Christian, Brais Bernard, Yoon Grace, Sztriha Laszlo, Webster Richard I, Timmann Dagmar, van de Warrenburg Bart P, Seeger Jürgen, Zimmermann Alíz, Máté Adrienn, Goizet Cyril, Fung Eva, van der Knaap Marjo S, Fribourg Sébastien, Vanderver Adeline, Simons Cas, Taft Ryan J, Yates John R, Coulombe Benoit, Bernard Geneviève: Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nature communications 6: 7623, July  2015.

Helman Guy, Van Haren Keith, Escolar Maria L, Vanderver Adeline: Emerging treatments for pediatric leukodystrophies. Pediatric clinics of North America 62(3): 649-66, Jun 2015.

Vanderver Adeline, Prust Morgan, Tonduti Davide, Mochel Fanny, Hussey Heather M, Helman Guy, Garbern James, Eichler Florian, Labauge Pierre, Aubourg Patrick, Rodriguez Diana, Patterson Marc C, Van Hove Johan L K, Schmidt Johanna, Wolf Nicole I, Boespflug-Tanguy Odile, Schiffmann Raphael, van der Knaap Marjo S: Case definition and classification of leukodystrophies and leukoencephalopathies. Molecular genetics and metabolism 114(4): 494-500, Apr 2015.

Upton KR, Gerhardt DJ,  Jesuadian JS, Richardson SR, Sánchez-Luque FJ, Bodea GO, Ewing AD, Salvador-Palomeque C, van der Knaap MS, Brennan PM, Vanderver A: Ubiquitous L1 mosaicism in hippocampal neurons. Cell 161(2): 228-39, Apr 2015.

Simons Cas, Griffin Laurie B, Helman Guy, Golas Gretchen, Pizzino Amy, Bloom Miriam, Murphy Jennifer L P, Crawford Joanna, Evans Sarah H, Topper Scott, Whitehead Matthew T, Schreiber John M, Chapman Kimberly A, Tifft Cyndi, Lu Katrina B, Gamper Howard, Shigematsu Megumi, Taft Ryan J, Antonellis Anthony, Hou Ya-Ming, Vanderver Adeline: Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. American journal of human genetics 96(4): 675-81, Apr 2015.

Parikh S, Bernard G, Leventer RJ, van der Knaap MS, van Hove J, Pizzino A, McNeill NH, Helman G, Simons C, Schmidt JL, Rizzo WB, Patterson MC, Taft RJ, Vanderver A: A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephalopathies. Mol Genet Metab 114(4): 501-515, Apr 2015.

Helman Guy, Van Haren Keith, Bonkowsky Joshua L, Bernard Genevieve, Pizzino Amy, Braverman Nancy, Suhr Dean, Patterson Marc C, Ali Fatemi S, Leonard Jeff, van der Knaap Marjo S, Back Stephen A, Damiani Stephen, Goldman Steven A, Takanohashi Asako, Petryniak Magdalena, Rowitch David, Messing Albee, Wrabetz Lawrence, Schiffmann Raphael, Eichler Florian, Escolar Maria L, Vanderver Adeline: Disease specific therapies in leukodystrophies and leukoencephalopathies. Molecular genetics and metabolism 114(4): 527-36, Apr 2015.

Crow Yanick J, Chase Diana S, Lowenstein Schmidt Johanna, Szynkiewicz Marcin, Forte Gabriella M A, Gornall Hannah L, Oojageer Anthony, Anderson Beverley, Pizzino Amy, Helman Guy, Abdel-Hamid Mohamed S, Abdel-Salam Ghada M, Ackroyd Sam, Aeby Alec, Agosta Guillermo, Albin Catherine, Allon-Shalev Stavit, Arellano Montse, Ariaudo Giada, Aswani Vijay, Babul-Hirji Riyana, Baildam Eileen M, Bahi-Buisson Nadia, Bailey Kathryn M, Barnerias Christine, Barth Magalie, Battini Roberta, Beresford Michael W, Bernard Geneviève, Bianchi Marika, Billette de Villemeur Thierry, Blair Edward M, Bloom Miriam, Burlina Alberto B, Carpanelli Maria Luisa, Carvalho Daniel R, Castro-Gago Manuel, Cavallini Anna, Cereda Cristina, Chandler Kate E, Chitayat David A, Collins Abigail E, Sierra Corcoles Concepcion, Cordeiro Nuno J V, Crichiutti Giovanni, Dabydeen Lyvia, Dale Russell C, D'Arrigo Stefano, De Goede Christian G E L, De Laet Corinne, De Waele Liesbeth M H, Denzler Ines, Desguerre Isabelle, Devriendt Koenraad, Di Rocco Maja, Fahey Michael C, Fazzi Elisa, Ferrie Colin D, Figueiredo António, Gener Blanca, Goizet Cyril, Gowrinathan Nirmala R, Gowrishankar Kalpana, Hanrahan Donncha, Isidor Bertrand, Kara Bülent, Khan Nasaim, King Mary D, Kirk Edwin P, Kumar Ram, Lagae Lieven, Landrieu Pierre, Lauffer Heinz, Laugel Vincent, La Piana Roberta, Lim Ming J, Lin Jean-Pierre S-M, Linnankivi Tarja, Mackay Mark T, Marom Daphna R, Marques Lourenço Charles, McKee Shane A, Moroni Isabella, Morton Jenny E V, Moutard Marie-Laure, Murray Kevin, Nabbout Rima, Nampoothiri Sheela, Nunez-Enamorado Noemi, Oades Patrick J, Olivieri Ivana, Ostergaard John R, Pérez-Dueñas Belén, Prendiville Julie S, Ramesh Venkateswaran, Rasmussen Magnhild, Régal Luc, Ricci Federica, Rio Marlène, Rodriguez Diana, Roubertie Agathe, Salvatici Elisabetta, Segers Karin A, Sinha Gyanranjan P, Soler Doriette, Spiegel Ronen, Stödberg Tommy I, Straussberg Rachel, Swoboda Kathryn J, Suri Mohnish, Tacke Uta, Tan Tiong Y, te Water Naude Johann, Wee Teik Keng, Thomas Maya Mary, Till Marianne, Tonduti Davide, Valente Enza Maria, Van Coster Rudy Noel, van der Knaap Marjo S, Vassallo Grace, Vijzelaar Raymon, Vogt Julie, Wallace Geoffrey B, Wassmer Evangeline, Webb Hannah J, Whitehouse William P, Whitney Robyn N, Zaki Maha S, Zuberi Sameer M, Livingston John H, Rozenberg Flore, Lebon Pierre, Vanderver Adeline, Orcesi Simona, Rice Gillian I: Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. American journal of medical genetics. Part A 167A(2): 296-312, Feb 2015.

Wolf Nicole I, Toro Camilo, Kister Ilya, Latif Kartikasalwah Abd, Leventer Richard, Pizzino Amy, Simons Cas, Abbink Truus E M, Taft Ryan J, van der Knaap Marjo S, Vanderver Adeline: DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder. Neurology 84(3): 226-30, Jan 2015.

2014

Wolf Nicole I, Vanderver Adeline, van Spaendonk Rosalina M L, Schiffmann Raphael, Brais Bernard, Bugiani Marianna, Sistermans Erik, Catsman-Berrevoets Coriene, Kros Johan M, Pinto Pedro Soares, Pohl Daniela, Tirupathi Sandya, Strømme Petter, de Grauw Ton, Fribourg Sébastien, Demos Michelle, Pizzino Amy, Naidu Sakkubai, Guerrero Kether, van der Knaap Marjo S, Bernard Geneviève: Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology 83(21): 1898-905, Nov 2014.

King Jessica E, Dexter Amy, Gadi Inder, Zvereff Val, Martin Meaghan, Bloom Miriam, Vanderver Adeline, Pizzino Amy, Schmidt Johanna L: Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report. Journal of genetic counseling 23(5): 734-41, Oct 2014.

Shehata L, Simeonov DR, Raams A, Wolfe L, Vanderver A, Li X, Huang Y, Garner S, Boerkoel CF, Thurm A, Herman GE, Tifft CJ, He M, Jaspers NG, Gahl WA: ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination. Am J Med Genet A. 164A(11): 2892-900, Sept 2014.

Pizzino Amy, Pierson Tyler Mark, Guo Yiran, Helman Guy, Fortini Sebastian, Guerrero Kether, Saitta Sulagna, Murphy Jennifer Louise Patrick, Padiath Quasar, Xie Yi, Hakonarson Hakon, Xu Xun, Funari Tara, Fox Michelle, Taft Ryan J, van der Knaap Marjo S, Bernard Geneviève, Schiffmann Raphael, Simons Cas, Vanderver Adeline: TUBB4A de novo mutations cause isolated hypomyelination. Neurology 83(10): 898-902, Sep 2014.

Pouwels Petra J W, Vanderver Adeline, Bernard Genevieve, Wolf Nicole I, Dreha-Kulczewksi Steffi F, Deoni Sean C L, Bertini Enrico, Kohlschütter Alfried, Richardson William, Ffrench-Constant Charles, Köhler Wolfgang, Rowitch David, Barkovich A James: Hypomyelinating leukodystrophies: translational research progress and prospects. Annals of neurology 76(1): 5-19, Jul 2014.

Hamilton Eline M, Polder Emiel, Vanderver Adeline, Naidu Sakkubai, Schiffmann Raphael, Fisher Kate, Raguž Ana Boban, Blumkin Luba, van Berkel Carola G M, Waisfisz Quinten, Simons Cas, Taft Ryan J, Abbink Truus E M, Wolf Nicole I, van der Knaap Marjo S: Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. Brain : a journal of neurology 137(Pt 7): 1921-30, Jul 2014.

Renvoisé Benoît, Chang Jaerak, Singh Rajat, Yonekawa Sayuri, FitzGibbon Edmond J, Mankodi Ami, Vanderver Adeline, Schindler Alice, Toro Camilo, Gahl William A, Mahuran Don J, Blackstone Craig, Pierson Tyler Mark: Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11. Annals of clinical and translational neurology 1(6): 379-389, Jun 2014.

Dallabona Cristina, Diodato Daria, Kevelam Sietske H, Haack Tobias B, Wong Lee-Jun, Salomons Gajja S, Baruffini Enrico, Melchionda Laura, Mariotti Caterina, Strom Tim M, Meitinger Thomas, Prokisch Holger, Chapman Kim, Colley Alison, Rocha Helena, Ounap Katrin, Schiffmann Raphael, Salsano Ettore, Savoiardo Mario, Hamilton Eline M, Abbink Truus E M, Wolf Nicole I, Ferrero Ileana, Lamperti Costanza, Zeviani Massimo, Vanderver Adeline, Ghezzi Daniele, van der Knaap Marjo S: Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology 82(23): 2063-71, Jun 2014.

Rice Gillian I, del Toro Duany Yoandris, Jenkinson Emma M, Forte Gabriella M A, Anderson Beverley H, Ariaudo Giada, Bader-Meunier Brigitte, Baildam Eileen M, Battini Roberta, Beresford Michael W, Casarano Manuela, Chouchane Mondher, Cimaz Rolando, Collins Abigail E, Cordeiro Nuno J V, Dale Russell C, Davidson Joyce E, De Waele Liesbeth, Desguerre Isabelle, Faivre Laurence, Fazzi Elisa, Isidor Bertrand, Lagae Lieven, Latchman Andrew R, Lebon Pierre, Li Chumei, Livingston John H, Lourenço Charles M, Mancardi Maria Margherita, Masurel-Paulet Alice, McInnes Iain B, Menezes Manoj P, Mignot Cyril, O'Sullivan James, Orcesi Simona, Picco Paolo P, Riva Enrica, Robinson Robert A, Rodriguez Diana, Salvatici Elisabetta, Scott Christiaan, Szybowska Marta, Tolmie John L, Vanderver Adeline, Vanhulle Catherine, Vieira Jose Pedro, Webb Kate, Whitney Robyn N, Williams Simon G, Wolfe Lynne A, Zuberi Sameer M, Hur Sun, Crow Yanick J: Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nature genetics 46(5): 503-9, May 2014.

Vanderver Adeline, Tonduti Davide, Kahn Ilana, Schmidt Johanna, Medne Livija, Vento Jodie, Chapman Kimberly A, Lanpher Brendan, Pearl Phillip, Gropman Andrea, Lourenco Charles, Bamforth John-Steven, Sharpe Cynthia, Pineda Mercédes, Schallner Jens, Bodamer Olaf, Orcesi Simona, Oberstein Saskia A J Lesnik, Sistermans Erik A, Yntema Helger G, Bonnemann Carsten, Waldman Amy T, van der Knaap Marjo S: Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. American journal of medical genetics. Part A 164A(3): 627-33, Mar 2014.

Han Sungpil, Lin Yen Chih, Wu Tianxia, Salgado Alan D, Mexhitaj Ina, Wuest Simone C, Romm Elena, Ohayon Joan, Goldbach-Mansky Raphaela, Vanderver Adeline, Marques Adriana, Toro Camilo, Williamson Peter, Cortese Irene, Bielekova Bibiana: Comprehensive immunophenotyping of cerebrospinal fluid cells in patients with neuroimmunological diseases. Journal of immunology (Baltimore, Md. : 1950) 192(6): 2551-63, Mar 2014.

Gotoh Leo, Inoue Ken, Helman Guy, Mora Sara, Maski Kiran, Soul Janet S, Bloom Miriam, Evans Sarah H, Goto Yu-ichi, Caldovic Ljubica, Hobson Grace M, Vanderver Adeline: GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease. Molecular genetics and metabolism 111(3): 393-8, Mar 2014.

La Piana Roberta, Tonduti Davide, Gordish Dressman Heather, Schmidt Johanna L, Murnick Jonathan, Brais Bernard, Bernard Genevieve, Vanderver Adeline: Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies. Journal of child neurology 29(2): 214-20, Feb 2014.

Crow Y J, Vanderver A, Orcesi S, Kuijpers T W, Rice G I: Therapies in Aicardi-Goutières syndrome. Clinical and experimental immunology 175(1): 1-8, Jan 2014.

Abstracts

2017

Bluske K, Gross A, Hagelstrom RT, Chawla A, Jones M, Masser-Frye D, Vanderver A, Ajay SS, Belmont J, Bennett M, Burns N, Coffey A, Del Campo M, Galarreta C, Malhotra A, McEachern J, Pizzino A, Rajan M, Rajan V, Sherbini O, Scocchia A, Seltzer WK, Thorpe E, Wigby K, Bentley DR, Perry DL, Taft RJ, Detection of Trisomy, Uniparental Disomy, and Translocation by Clinical Whole Genome Sequencing Test. Presented at the 2017 ACMG Clinical Genetics Meeting. March 23, 2017, Phoenix, AZ.

Malhotra A., Hagelstrom T., Pizzino A., Scherbini O., Thorpe E., Bennett M., Juan B., Rajan M., Avecilla J., Bluske K., Burns N., Chawla A., Scocchia A., Seltzer W.K., Ajay S.S.,  Rajan V., Coffey A., Perry D.L., Belmont J., Bentley D.R., Taft R.J., Vanderver A., Phenotype Expansion Associated with Variants in the WDR45 Gene. Presented at the 2017 ACMG Clinical Genetics Meeting. March 23, 2017, Phoenix, AZ.

2016

Rhee J, Ulrick N, Hamoud S, Pizzino A, Bloom M, Evans S, Gropman A, Rosenbaum K, Thorpe E, Chowdhury S, Taft RJ, Vanderver A.  Impact of identifying ADNP mutations in a persistently unsolved individual with autism spectrum disorder. Accepted to the ACNN Scientific Meeting at the 45th Annual Meeting of the Child Neurology Society, Vancouver (October 2016)

Vanderver A, Miyake N, Cayami F, Crawford J, Conant A, Ulrick N, Humphray S, Sival D, Stolte-Dijkstra I, Sinke RJ, Rodenburg R, Kimura-Ohba S, Superti-Furga A, Gripp K, Bulas D, Bent SJ, Pizzino A, Taft RJ, Ozono K, Matsumoto N, Neubauer BA, Simons C, Wolf N. Title: X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD). Accepted to the 45th Annual Meeting of the Child Neurology Society, Vancouver (October 2016).

Armangue T, Tavasoli AR, Kelly MA, Pizzino A, Nahhas N, Evans S, Ball L, Rhee J, Bloom M, Whitehead M, Waldman A, Vanderver A, MRI Biomarker and Natural History in Alexander Disease, Accepted to the 45th Annual Meeting of the Child Neurology Society, Vancouver (October 2016).

Pelletier F, Mirchi A, Cayami F, Tran L, Ulrick N, Polychronakos C, Vanderver A, Wolf N, Bernard G. Endocrine and growth abnormalities in 4H leukodystrophy patients with a molecular diagnosis. 51st congress of the Canadian Neurological Sciences Federation, June 21-24 2016, Quebec City, Canada, June 23rd 2016.

Mirchi A, Pelletier F, Tran L, Pizzino A, Dilenge M-E, Braverman N, Vanderver A, Roncarolo F, Bernard G. Health-related quality of life (HRQOL) for genetically determined leukoencephalopathy patients and their families. 51st congress of the Canadian Neurological Sciences Federation, June 21-24 2016, Quebec City, Canada, June 23rd 2016.

Meoded A,  Dastgir J, Vanderver A,  Poretti A, Bonneman C, DTI reveals suporatentorial and infratentorial abnormalities in children with LAMA2-related muscular dystrophy, ASNR 2016 Annual Meeting.

Al-Yazidi G, Tran L, Guerrero K, Vanderver A, Schiffmann R, Wolf NI, Chouinard S, Bernard G. Dystonia in POLR3-related leukodystrophy. Presented at the 68th Annual Meeting of the American Academy of Neurology, Vancouver, Canada (April 2016)

Helman G, Brooks S, Gordish-Dressman H, Takanohashi A, Harmon B, Crow YJ, Rice GI, Lebon P, van der Knaap, MS, Herron B, Brooks PJ, Goldbach-Mansky R, Vanderver A Intrathecal Interferon Signaling Genes Expression in Leukodystrophies with Calcifying Microangiopathy on Neuropathology, Presented at the 68th Annual Meeting of the American Academy of Neurology, Vancouver, Canada (April 2016)

2015

Kim H, Liu Y, Almeida de Jesus A, Wesley R, Huang Y,  Montealegre G, Chapelle D, Tsai W, Gadina M, Millers F, Hasni S, Vanderver A, Rider LG, Goldbach-Mansky R. Cytokine Profile Comparison of Monogenic and Complex Conditions with Interferon-Regulated Gene Signatures, in Chronic Atypical Neutrophilic Dermatosis with Lipodsytrophy and Elevated temperature (CANDLE), SAVI, Aicardi-Goutieres Syndrome, JDM, and SLE, American College of Rheumatology Annual Meeting, San Francisco (November 2015). 

Ulrick N, Goldstein A, Simons C, Taft R, Helman G,  Pizzino A, Bloom M, Vogt J, Pysden K, Diodato D, Monavari A, Bernard G, Van Karnebeek C, Vanderver A. Leukoencephalopathy

J Curiel, A Takanohashi, MS van der Knaap, B Nmezi, R Schiffmann, M Bugaighis, T Pierson G Helman, C Simons, Q Padiath, J Liu A Vanderver. TUBB4A mutations cause diverse neurologic phenotypes related to differences in microtubule dynamics.  (Accepted to the 44th Annual Meeting of the Child Neurology Society, Washington, DC (October 2015)).

G Helman, BS, H Gordish-Dressman, PhD, A Takanohashi, DVM PhD, B Harmon, MA YJ Crow, MD PhD, GI Rice, MBBS, MRCP, PhD, P Lebon, MS van der Knaap, MD PhD, B Herron, MD, R Goldbach-Mansky, MD MHS, A Vanderver, MD. Intrathecal Interferon Signaling Genes Expression in Aicardi Goutiere Syndrome. (Accepted to the 44th Annual Meeting of the Child Neurology Society, Washington, DC (October 2015)).

G Helman, BS, RJ Taft, PhD, JL. Bonkowsky, MD PhD, F Eichler, MD, A Pizzino, MS CGC, A Vanderver, MD. Pediatric Neurologist Use of Next-Generation Sequencing Diagnostics: Current State and Future Prospects. (Accepted to the 44th Annual Meeting of the Child Neurology Society, Washington, DC (October 2015)).

Books

Chapters

2006

Vanderver A.: "Peroxisomal disorders"  Pediatric Neurology for the Oral Boards: A Case-based Review. Ed Tena  Rosser, Lippincott Williams & Wilkins,   (eds.). September 2006.

Vanderver A.: "Alexander disease" Pediatric Neurology for the Oral Boards: A Case-based Review. Ed Tena  Rosser (eds.). Lippincott Williams & Wilkins  September  2006.

Vanderver A: "X-linked Mental Retardation" Pediatric Neurology for the Oral Boards: A Case-based Review. Ed Tena  Rosser, Lippincott Williams & Wilkins (eds.). September  2006.

2005

Vanderver A, Gaillard WD: Lennox-Gastaut Syndrome. In Treatment of Pediatric Neurologic Disorders.  Ed. H Singer. Taylor and Francis (eds.). June 2005.

Vanderver A, Gropman A: "Childhood Mitochondrial Disorders and Other Inborn Errors of Metabolism Presenting with White Matter Disease" Bioimaging in Neurodegeneration. Ed Broderick P, Rahni D, Kolodny E (eds.). Humana Press, April  2005.

2003

Vanderver A, Pearl P: "Beckwith-Wiedemann syndrome" in NORD Guide to Rare Disorders. (eds.). Lippincott Williams & Wilkins: Philadelphia, Page: p518, 2003.

Vanderver A, Pearl P: "Turner syndrome" in NORD Guide to Rare Disorders. Lippincott,Williams & Wilkins: Philadelphia, Page: p264-265, 2003.

Posters and Presentations

Posters

Kim H, Liu Y, Almeida de Jesus A, Wesley R, Huang Y,  Montealegre G, Chapelle D, Tsai W, Gadina M, Millers F, Hasni S, Vanderver A, Rider LG, Goldbach-Mansky R. Cytokine Profile Comparison of Monogenic and Complex Conditions with Interferon-Regulated Gene Signatures, in Chronic Atypical Neutrophilic Dermatosis with Lipodsytrophy and Elevated temperature (CANDLE), SAVI, Aicardi-Goutieres Syndrome, JDM, and SLE [poster]. American College of Rheumatology Annual Meeting; 2015 Nov; San Francisco, CA.

Ulrick N, Goldstein A, Simons C, Taft R, Helman G,  Pizzino A, Bloom M, Vogt J, Pysden K, Diodato D, Monavari A, Bernard G, Van Karnebeek C, Vanderver A. Leukoencephalopathy with Temporal Lobe Cysts and Hearing Loss, caused by RMND1 Mutations [poster]. 44th Annual Meeting of the Child Neurology Society; 2015 Oct; Washington, DC.

Curiel J, Takanohashi A, van der Knaap MS, Nmezi B, Schiffmann R, Bugaighis M, Pierson T, Helman G, Simons C, Padiath Q, Liu J, Vanderver A. TUBB4A mutations cause diverse neurologic phenotypes related to differences in microtubule dynamics [poster]. 44th Annual Meeting of the Child Neurology Society; 2015 Oct; Washington, DC.

G Helman, BS, RJ Taft, PhD, JL. Bonkowsky, MD PhD, F Eichler, MD, A Pizzino, MS CGC, A Vanderver, MD. Pediatric Neurologist Use of Next-Generation Sequencing Diagnostics: Current State and Future Prospects [poster]. 44th Annual Meeting of the Child Neurology Society; 2015 Oct; Washington, DC.

G Helman, BS, H Gordish-Dressman, PhD, A Takanohashi, DVM PhD, B Harmon, MA YJ Crow, MD PhD, GI Rice, MBBS, MRCP, PhD, P Lebon, MS van der Knaap, MD PhD, B Herron, MD, R Goldbach-Mansky, MD MHS, A Vanderver, MD. Intrathecal Interferon Signaling Genes Expression in Aicardi Goutiere Syndrome [poster]. 44th Annual Meeting of the Child Neurology Society; 2015 Oct; Washington, DC.

Murphy, Helman G, Pizzino A, Bloom M, Evans S, Taft R, Simons C, Vanderver A. De novo deletion in SZT2 resulting in an early-onset epileptic encephalopathy [poster]. ACNN (Association of Child Neurology Nurses) Annual Meeting; 2014.

Vanderver A, Takanohashi A, Bugiani M, van der Knaap MS, Liu J. Effect of TUBB4A mutations on tubulin polymerization and axonal transport: molecular mechanisms of Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum [poster]. Annual Meeting of the Child Neurology Society; 2014 Oct; Columbus, OH.

Toro C, Cheung H, Tzeng M, Landis D, Vanderver A, Godfrey R, Nehrebecky M, Boerkoel C, Gahl W. Hereditary diffuse leukoencephalopathy with spheroids (HDLS): Novel CSF1R mutations and locus heterogeneity [poster]. Annual Meeting of the American Society of Human Genetics; 2014 Oct; San Diego, CA.

Kahn I, Helman G, Wells E, Vanderver A. Treatment Protocol in Anti-NMDA Receptor Encephalitis: pilot results from a survey of child neurologists [poster]. Annual Meeting of the Child Neurology Society; 2014 Oct; Columbus, OH.

Kahn I, Helman G, Wells E, Vanderver A. Treatment Protocol in Anti-NMDA Receptor Encephalitis: pilot results from a survey of child neurologists [poster] Annual Meeting of the Child Neurology Society; 2014 Oct; Columbus, OH.

La Piana R, Uggetti C, Vanderver A, Olivieri I, Tonduti D,Balottin U, Fazz E, Crow Yj, Livingston J, Orcesi S. Neuroradiological Findings And Patterns In Aicardi-Goutières Syndrome [poster]. 42nd Congrès de la Société Européenne de Neurologie Pédiatrique; 2014 Sept; Montreal, Canada.

Hendriksz CJ, Muenzer J, Vanderver A, Davis JM, Burton BK, Mendelsohn NJ, Wang N, Pan L, Pano A, Barbier AJ. Levels of Glycosaminoglycans in the Cerebrospinal Fluid of Healthy Young Adults, Surrogate-Normal Children, and Hunter Syndrome Patients with and without Cognitive Impairment [poster]. International Symposium on MPS and Related Diseases; 2014 Aug; Bahia, Brazil.

Muenzer J, Vanderver A; Davis JM, Burton BK, Mendelsohn NJ, Hendriksz CJ, Wang N, Pan L, Pano A, Barbier AJ, Cammarata S. Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter Syndrome patients with and without cognitive impairment [poster]. 10th Lysosomal Disease Network-World Symposium; 2014 Feb; San Diego, CA.

Lectures by Invitation

2016

Vanderver A. Genomics in Child Neurology -Breakfast Symposium organizer and speaker at the 45th Annual Meeting of the Child Neurology Society; 2016 Oct; Vancouver, CA.

Vanderver A. TUBB4A associated leukodystrophies [invited presentation]. United Leukodystrophy Foundation; 2016 Jul; Omaha, NE.

Vanderver A. Moderator of session and presentation in Glia in Health and Disease [invited presentation]. Glia Meeting, Cold Spring Harbor Laboratories; 2016 Jul; Cold Spring, NY.

Vanderver A. Genetics of Leukodystrophies [invited presentation]. 68th Annual Meeting of the American Academy of Neurology; 2016 May; Vancouver, CA.

2015

Vanderver A. Aicardi Goutieres Syndrome, Molecular Mechanisms and Targeted Therapeutics [invited presentation]. 10th Anniversary of the Center for Childhood White Matter Disorders; 2015 Oct; VUMC Amsterdam.

Vanderver A. Neuroimaging for Neurologists: leukodystrophies [invited presentation]. Australia New Zealand Child Neurology Society Annual Meeting; 2015 Aug; Melbourne, Australia.

Vanderver A. Mission Accomplished: what identifying novel genes teaches us about the mechanisms of disease in Leukodystrophies [Grand Rounds, Keynote speaker]. Australia New Zealand Child Neurology Society Annual Meeting, Royal Children's Hospital of Melbourne; 2015 Aug; Melbourne, Australia.

Vanderver A. Mission Accomplished: what identifying novel genes teaches us about the mechanisms of disease in Leukodystrophies [invited presentation]. Australia New Zealand Child Neurology Society Annual Meeting, Royal Children's Hospital of Melbourne; 2015 Aug; Melbourne, Australia.

Vanderver A. The importance of patient advocacy groups to leukodystrophy research [invited presentation]. Mission Maissimo Foundation Family Meeting, Royal Children's Hospital of Melbourne; 2015 Aug; Melbourne, Australia.

Vanderver A. Optimizing clinical data to biobank & omics data [invited presentation]. European Leukodystrophy Association Scientific Meeting; 2015 Jun; Paris, France.

Vanderver A. Overexpressed Nucleic Acid in Aicardi-Goutieres Syndrome Patient Fibroblasts [invited presentation]. American Academy of Neurology 67th Annual Meeting; 2015 Apr; Washington, DC.

Vanderver A. Genetics of Leukodystrophies [invited presentation]. 67th Annual Meeting of the American Academy of Neurology; 2015 Apr; Washington, DC.

Vanderver A. Mimickers of Multiple Sclerosis [invited presentation]. 67th Annual Meeting of the American Academy of Neurology; 2015 Apr; Washington, DC.

Vanderver A. Early onset epileptic encephalopathy and deficient myelination as a result of autosomal recessive mutations in the AARS gene [invited presentation]. American Academy of Neurology 67th Annual Meeting; 2015 Apr; Washington, DC.

2014

Vanderver A. Update on the Leukodystrophies [Breakfast Symposium presentation]. 43rd Annual Meeting of the Child Neurology Society; 2014 Oct; Cleveland, OH.

Vanderver A. Centers of Excellence in Leukodystrophies and Leukoencephalopathies [invited presentation]. Hunter's Hope Scientific Meeting; 2014 Jul 28; Ellicotsville, NY.

Vanderver A. The Global Leukodystrophy Initiative [invited presentation]. United Leukodystrophy Foundation Annual meeting; 2014 Jul; Omaha, NE.

Vanderver A.  Experience with whole exome sequencing in leukodystrophies [invited presentation]. United Leukodystrophy Foundation Annual Meeting; 2014 Jul; Baltimore MD.

Vanderver A. The Global Leukodystrophy Initiative [invited presentation]. Hunter's Hope Leukodystrophy Family Meeting; 2014 Jul; Ellicotsville NY.

Vanderver A. Aicardi Goutieres Syndrome: Gene identification to treatment [Grand rounds]. VUMC; 2014 Jul; Amsterdam, Netherlands.

Vanderver A. Adult onset leukodystrophies [invited presentation]. Veteran' Administration Hospital Grand Rounds; 2014 Jun; Washington DC.

Vanderver A. The role of MRI in Leukodystrophies: more than just pattern recognition [invited presentation]. Children's Hospital of Philadelphia Neuroimaging Symposium; 2014 Jun; Philadelphia, PA.

Vanderver A. Mimickers of Multiple Sclerosis [invited presentation]. 66th Annual Meeting of the American Academy of Neurology; 2014 May; Philadelphia, PA.

Vanderver A. Clinical and MRI endpoints for clinical trials targeting hypomyelinating leukodystrophies [invited presentation]. European Leukodystrophies Association Family Scientist Meeting; 2014 Apr; Paris, France.

Vanderver A. Clinical and MRI endpoints for clinical trials targeting hypomyelinating leukodystrophies, European Leukodystrophies Association Family Scientist Meeting; 2014 Apr; Paris, France.

Awards and Honors

2015, Murdoch Children's Research Institute Visiting Fellows Award, Royal Children's Hospital of Melbourne, Australia

2013, Early Career Reviewer (ECR) program at the Center for Scientific Review (CSR), National Institutes of Health

2007, United Leukodystrophy Foundation Travel Award

2007, American Academy of Neurology Foundation Clinical Research Training Fellowship

2004, American Academy of Neurology resident scholarship award

2003, Outstanding Junior Member Award, Child Neurology Society

2002, Ortho-McNeil TopScholars Program, Child Neurology Society Meeting

Editorial and Academic Positions

Ad Hoc Reviewer

2007-present, Neurology
2007-present, Orphanet
2007-present, Journal of Pediatric Neurology
2007-present, Clinical Autonomic Research

Leadership and Memberships

Memberships in Professional Organizations

International

2005-present, Society for Inherited Metabolic Disease, Invited Member

National

2008-present, Society for Neuroscience (Member)
2007-present, Consortium of MS Centers (Member)
2001-present, Child Neurology Society (Member)
2001-present, American Academy of Neurology (Member)