Adeline Vanderver, MD

2026

Sase S, Hacker JL, Napit PR, Bhagavatula A, Woidill S, D'Alessandro A, Jeffries MA, Almad A, Takanohashi A, Padiath QS, Grinspan JB, Marsh ED, Vanderver A. Therapeutic suppression of Tubb4a rescues H-ABC leukodystrophy. Mol Ther. 2026 Jan 20:S1525-0016(26)00017-1. PMID: 41566774

Sevagamoorthy A, Gavazzi F, Tashnim Z, Hong P, Vaia Y, Lee-Kirsch MA, Eleftheriou D, Beerepoot S, Hully M, Berry Kravis EM, Ventola P, Raspa M, Wheeler A, DeMauro SB, Glanzman AM, Townsend E, Duong T, Cusack S, Harrington AT, Pierce S, Fitzgerald M, Fazzi E, Galli J, Orcesi S, Tonduti D, Wassmer E, Cordova D, Adang LA, Butts C, Vanderver A. A novel patient-centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS). Mol Genet Metab. 2026 Feb 8;147(3):109765. PMID: 41671914

Gavazzi F, Woidill S, Sevagamoorthy A, Jawad AF, D'Aiello R, Bradford J, Lerner M, Hong P, White A, Tashnim Z, Cusack SV, Glanzman AM, Harrington A, Waldman AT, Vanderver A, Adang LA. Design of a Pediatric Low Motor Function Item Battery in leukodystrophies. Mol Genet Metab. 2026 Apr;147(4):109866. Epub 2026 Feb 26. PMID: 41785524

Kilich G, Jadhav T, Maurer K, Jammihal T, Schindewolf E, Ganetzky R, Vanderver A, Skraban C, Rajagopalan R, Sullivan K, Novel Biallelic LIG3 mutations causing lethal phenotype with immunodeficiency; a case solved by multi-omics. Am J Med Genet A. 2026 Feb 25. doi: 10.1002/ajmg.a.70104. Online ahead of print. PMID: 41741356

Rius R, Blakes AJM, … Vanderver A, Vossough A, Sanders SJ, Banka S, Findlay GM, MacArthur DG, Simons C, Whiffin N. See abstract for full author list. Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes. Nat Genet. 2026 Apr;58(4):761-773. Epub 2026 Apr 8.PMID: 41951959

De Pace R, Dominguez Gonzalez C, Williamson CD, Helman G, Sanderson LE, Disanza B, Hsiao-Sánchez N, Pizzino A, Muirhead K, Bonkowsky JL, Taft RJ, Sannaa NA, Dias P, Quintas AS, Burak Mutlu M, Bas H, Oztürk H, Mojarrad M, Alerasool M, Sheikhani S, Jabbar HK, Issa AH, Houlden H, Zonic E, Barakat TS, Tripolski K, Romito A, Teferedegn E, Vossough A, Whitehead MT, Bhoj E, Ahrens-Nicklas RC, Simons C, Wolvetang E, J. van Ham T, Bertoli-Avella AM, Maroofian R, Bonifacino JS, Vanderver A. BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy. Am J Hum Genet. 2026 Apr 2;113(4):736-753. Epub 2026 Mar 25. PMID: 41887224

Pizzino A, Arnold K, Wiener E, Muirhead K, Schmidt J, Dominguez Gonzalez CA, Banglorewala P, Fraser JL,  Ruzhnikov M,  Cohen JS, Sherbini O, Logan R, Gavazzi F, Sevagamoorthy A, Vincent A, D’Aiello R, Vanderver A. Rigorous Genetic Diagnosis Review in Natural History Studies. Orphanet J Rare Dis. 2026 Apr 28. PMID: 42050713.

Calame DG, Wiener EK, Gavazzi F, Sevagamoorthy A, Pizzino A, Arnold K, Dominguez Gonzalez C, Jammihal T, Bennett M, Adang L, Woidill S, Whitehead MT, Vossough A, D'Aiello R, Takanohashi A, Lele J, Simons C, Rius R, Formaini E, Sullivan KE, Andzelm M, Ebrahimi-Fakhari D, Otten C, Wong S, Reynolds T, Schiffmann R, Wolf NI, Waisfisz Q, Niermeijer JM, DeMarzo D, Dawood M, Gandhi M, Levine JM, Chinn IK, Fisher K, Emrick L, Alam CA, Kaiyrzhanov R, Maroofian R, Houlden H, Jhangiani SN, Mehta HH, Muzny DM, Sedlazeck FJ, Posey JE, Lupski JR, Gibbs RA, Rajagopalan R, Vanderver A. PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance. medRxiv [Preprint]. 2026 Apr 1:2026.03.27.26345228. PMID: 41959779

Gonzalez Saez-Diez E, Ferrer Socorro M, Yang K, Battaglia N, Zaman Z, Bennett M, Vanderver A, Lee PY, Henderson LA, Andzelm MM, Ebrahimi-Fakhari D. Movement Disorders in Aicardi-Goutières Syndrome and Response to Immunomodulation. Ann Clin Transl Neurol. 2026 Apr 25. Online ahead of print. PMID: 42033272

Cusack SV, Glanzman AM, Gavazzi F, Woidill S, Jawad AF, Estilow T, Waldman AT, Vanderver A, Adang L; Children's Hospital of Philadelphia Leukodystrophy Workgroup. Performance outcomes of the PEDI-CAT for assessing functional ability in the population with leukodystrophy. Dev Med Child Neurol. 2026 Apr 30. PMID: 42060827

Riley T, Kotzin J, Park D, Banerjee S, Takanohashi A, Vanderver A, Baker J, Finck A, Miner J. Adult-onset STING-associated vasculopathy. Hum Immun. 2026 May 11;2(4):e20250235.PMID: 42125311

Hou Z, Gagne A, Cai J, Maguire JA, Pavani G, Yang W, Takanohashi A, Vanderver A, Sase S. Generation of three induced pluripotent stem cell lines from individuals with late infantile TUBB4A-associated leukodystrophy caused by a c.1172G > A (p.R391H) de novo mutation in TUBB4A. Stem Cell Res. 2026 Jul 18;95:104063. Online ahead of print. PMID: 42501571

Karandikar S, Sevagamoorthy A, Zimmerman D, D'Aiello R 3rd, Dorfschmidt L, Cyr K, Jung B, Levitis E, Adang LA, Arnold K, Bennett ML, Charsar BA, Dominguez Gonzalez CA, Gavazzi F, Hong P, Orthmann-Murphy JL, Pham ST, Kelley K, Lerner M, Shults J, Thakur N, Vossough A, Waldman AT, White A, Whitehead MT, Emrick L, Fraser J, Van Haren K, Keller S, Fatemi A, Eichler F, Bonkowsky JL; Global Leukodystrophy Initiative Clinical Trials Network Workgroup; Seidlitz J, Alexander-Bloch AF, Vanderver A. Normative modeling for quantitative brain MRI phenotyping and biomarker discovery for pediatric leukodystrophies. medRxiv [Preprint]. 2026 May 25:2026.05.22.26353512. PMID: 42245025

Sevagamoorthy A, Woidill S, Sudilovsky G, Kelley K, Vaia Y, Gavazzi F, Schmidt JL, Pizzino A, D’Aiello R, Uebergang E, Bruschi F, Mirchi A, Abe-Hatano C, Sartorelli J, Nicita F, Cunningham C, Tonduti D, Bertini E, Bernard G, Inoue K, Wolf NI, Adang LA, Schults J,  Vanderver A, Developmental Trajectory of Individuals with Pelizaeus-Merzbacher Disease (PMD), Mol Genet Metab. 2026 Jul;148(3):110154. doi: 10.1016/j.ymgme.2026.110154. Epub 2026 May 15. PMID: 42176404

2025

Gavazzi F, Charsar B, Hamilton E, Erler JA, Patel V, Woidill S, Sevagamoorthy A, Helman G, Schmidt J, Pizzino A, Muirhead K, Takanohashi A, Bonkowsky JL, Meyerhoffer K, Simons C, Doi H, Satoko M, Matsumoto N, Delgado MR, Sanchez-Castillo M, Wang J, de Carvalho DR, Tournev I, Chamova T, Jordanova A, Clegg NJ, Nicita F, Bertini E, Teng M, Williams D, Tonduti D, Houlden H, Stellingwerff M, Wassmer E, Garcia-Cazorla A, Bernard G, Mirchi A, Toutounchi H, Wolf NI, van der Knaap MS, Shults J, Adang LA, Vanderver A. The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy. Mol Genet Metab. 2025 Mar;144(3):109048. Epub 2025 Feb 1. PMID: 39951964

Alves CAPF, Rossi-Espagnet MC, Perez F,  Manteghinejad A,  Peterson J,  Ganetzky R,  Napolitano A, Grassi F, George-Sankoh I,  Muraresku C,  Falk MJ, Martinelli D, Longo D,  Vanderver A, Gandolfo C,  Saneto RP,  Goldstein A, Vossough A, Single Large Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients." American Journal of Neuroradiology 2025 May 2. PMID: 40210455

Le A, Thibault KA, Yazdani PA, Bertini E, Nicita F, Pohl D, Venkateswaran S, Keller S, Renaud D, González-Morón D, Kauffman M, De Assis Pereira D, Vanderver A, Morsa M, POLR3-Related Leukodystrophy: A Qualitative Study on Parents’ Experiences with the Healthcare System. Pediatric Neurology, Pediatr Neurol. 2025 May;166:81-87. 2025.02.011. Epub 2025 Feb 27.PMID: 40106878.

Dominguez Gonzalez CA, Spinner NB, Ahrens-Nicklas RC,  Young LR,  Voss LA, Reichert SL,  Gallo  DJ, Cohen JS,  Bonkowsky JL,  Keller SR, Bennett ML,  Pizzino AM, Swantkowski M,  Arnold K,  Fraser JL,  Emerson FJ, Miettunen K,  Fatemi A, Van Haren KP,  Adang  L, Waldman A, Emrick L, Eichler F, Vanderver A, Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing. Genetics in Medicine, Genet Med. 2025 Apr 5:101425. PMID: 40202052 

Malhotra A, Thorpe E, Coffey A J, Rajkumar R, Adjeman J, Adjetey N D N A, Aglobitse S, Allotey F, Arsov T, Ashong J, Badoe E V, Basel D, Brew Y, Brown C, Bosfield K, Casas K, Cornejo-Olivas M, Davis-Keppen L, Freed A, Gibson K, Jayakar P, Jones M C, Kawome M, Lumaka A, Maier U, Makay P, Manassero G, Marbell-Wilson M, Marcuccilli C, Masser-Frye D, McCarrier J, Mills H S, Montoya J B, Mubungu G, Ngole M, Perez J, Pivnick E, Roque M M D, Salguero H P, Serize A, Shinawi M, Sirchia F, Soler-Alfonso C, Taylor A, Thompson L, Vance G, Vanderver A, Vaux K, Velasco D, Wiafe S, Interpretation and Reporting Team ILS, Taft R J, Perry D L, Kesari A. Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease. Human Genetics and Genomics Advances HGG Adv. 2025 Apr 7:100430. PMID: 40195116

Beerepoot S, Grinwis L, Vanderver AL, van der Knaap MS, Kuijpers TW. Tofacitinib treatment for psoriatic skin lesions associated with Aicardi-Goutières syndrome 7/Singleton-Merten syndrome 1. Orphanet J Rare Dis. 2025 Apr 2;20(1):155. PMID: 40176112

Cheung ACT, Di Pietro E, Argyriou C, Bareke E, D’Souza Y, Dua Puri R, Shabeer M, Ganetzky R, Goldstein A, Vanderver A, Mohan S, Majewski J, Yergeau C. Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders. Molecular Genetics and Metabolism, 2025 Mar 11; 145 (1) PMID: 40112482.

Tricoli L, Sase S, Hacker JL, Pham V, Chappell M, Breda L, Hurwitz SN, Tanaka N, Castruccio Castracani C, Guerra A, Hou Z, Schlotawa L, Radhakrishnan K, Hogenauer M, Roche A, Everett J, Bushman F, Kurre P, Ahrens-Nicklas R, M.D. Adang LA, Vanderver A, Rivella S, Effective Gene Therapy for Metachromatic Leukodystrophy Achieved with Minimal Lentiviral Genomic Integrations. Molecular Therapy - Nucleic Acids, 2025 Jan;36(1). PMID:40171445

Gavazzi F, Martin A, Sevagamoorthy A, Vaia Y, Vincent A,  Woidill S,  D'Aiello E, DeMauro S, Lorch S, Vanderver A, Adang L, Experiences and hope in caregivers of children with Aicardi Goutières Syndrome (AGS). J Child Neurol. 2025 Aug;40(7):543-554.  Epub 2025 May 22. PMID: 40400365

Kotes ER, Woidill S, D’Aiello R, Khan A, McCann J, Ramos M, Gavazzi F,  Keller S, Van Haren K,  Fatemi AS, Eichler E, Bonkowsky J, Fraser J, Emrick L, Sherbini O,  Hackett A, Gauna J, Amos D, Goodman J,  Smith Fine A,  Nagy A, Lee S, Page N,  Schmidt J,  Pizzino A,   Muirhead K, Bennett M, Waldman A, Shults J, Adang L,  Grundmeier R, Vanderver A, Clinically Important Endpoints in Children with Leukodystrophy: A Multisite Study, Annals of the Child Neurology Society, 2025 Jul 9, PMID: 40857416. 

Michell-Robinson MA, Perrier S, Gauthier S, Derksen A, Sabbagh Q, Girbig M, Misiaszek AD, Pizzino AM, Renaud DL, De Assis Pereira D, Okuda P, Karoleska LM, Keller S, Chong K, Gauquelin L, Brais B, Leube B, Grider T, Shy ME, Schüle R, Minnerop M, Bertini E, Nicita F, Tonduti D, Müller CW, Vanderver A, Wolf NI, Bernard G. Comprehensive Genotype-Phenotype Analysis in POLR3-Related Disorders.HGG Adv. 2025 Jul 18:100481. doi: 10.1016/j.xhgg.2025.100481. Online ahead of print. PMID: 40684265

van Voorst RJ, Schoenmakers DH, van Beelen I, Gavazzi F,   Chapleau A, Vanderver A,  Bernard G, Krägeloh-Mann I, van der Knaap MS. The impact of Vanishing White Matter on unaffected family members. Orphanet Journal of Rare Diseases, 2025 Aug 26;20(1):456 PMID: 40859278

Schwendeman E, Kaminski HJ, Vanderver A, Wagner M, King E; RDCRN Data Use & Data Sharing Committee; Macaluso M. Data Sharing Experience, Guidance, and Resources From the Rare Diseases Clinical Research Network (RDCRN). Clin Transl Sci. 2025 Sep;18(9):e70340. doi: 10.1111/cts.70340. PMID: 40898424 

Varesio C, Politano D, Adang L, Ballante E, Battini R, Bertini E, Borgatti R, De Giorgis V, Del Boca A, Dragoni F, Fazzi E, Galli J, Garau J, Gavazzi F, Gardani A, La Piana R, Moroni I, Nicita F, Pichiecchio A, Pini A, Ricci F, Sartori S, Tonduti D, Vanderver A, Orcesi S. 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. Pediatr Neurol. 2025 Jul 25;171:92-99.  Epub ahead of print. PMID: 40812004.

De Pace R, Gonzalez CD, Williamson CD, Helman G, Sanderson LE, Disanza B, Hsiao-Sánchez N, Pizzino A, Muirhead K, Bonkowsky JL, Taft RJ, Sannaa NA, Dias P, Quintas AS, Mutlu MB, Bas H, Oztürk H, Mojarrad M, Alerasool M, Sheikhani S, Jabbar HK, Issa AH, Houlden H, Zonic E, Barakat TS, Tripolski K, Romito A, Teferedegn E, Vossough A, Whitehead MT, Bhoj E, Ahrens-Nicklas RC, Simons C, Wolvetang E, van Ham TJ, Bertoli-Avella AM, Maroofian R, Bonifacino JS, Vanderver A. BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy. medRxiv [Preprint]. 2025 Jul 17:2025.07.17.25331211. PMID: 40791729; PMCID: PMC12338918.

Dominguez Gonzalez CA, Bell KM, Rajagopalan R, de Silva MG, Lemes A, Zabala C, Pérez-Vidarte F, Cerisola A, Vossough A, Whitehead MT, Cunningham C, Brown NJ, Quin R, Simons C, Conway T, Uebergang E, Rius R, Kumaheri MA, Kotes ER, Vohra A, Zalusky MPG, Anderson ZB, Storz SHR, Ward SA, Goffena J, Gustafson JA, White SM, Vanderver A, Miller DE. Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated with Canavan Disease: A Diagnostic Blind Spot. Neurol Genet. 2025 Sep 22;11(5):e200291. eCollection 2025 Oct. PMID: 40995055

Gavazzi F, Patel V, Erler JA,  Charsar B, Vaia Y,  Sevagamoorthy, A Vincent A, Woidill S,  Wassmer, E, Houlden H, Garcia- Cazorla A, Tonduti D,  Wolf NI, van der Knaap M, Bernard G, Adang LA,  Vanderver A, Critical functional domains in pediatric onset TUBB4A-related leukodystrophy: a clinical and caregiver’s perspective, Pediatric Neurology, 2025 Oct 3;173:156-165. doi: 10.1016/j.pediatrneurol.2025.09.019. Online ahead of print. PMID: 41129987

DiSanza BL, Porcari GS, Finoti LS, Ramos-Rodriguez L, Burris DM, McDonough JA, Ning G, Fagan G, Helman GT, Weiss E, Taft RJ, Pizzino A, Whitehead MT, Waldman A, Simons C, Ortiz-Gonzalez X, Skarnes WC, Vanderver A, Bhoj EJ, Ahrens-Nicklas RC. Biallelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder. HGG Adv. 2025 Sep 29:100525. Online ahead of print. PMID: 41029903

Vasilevsky NA, Toro S, Matentzoglu N, Flack JE, Mullen KR, Hegde H, Gehrke S, Whetzel PL, Shwetar Y, Harris NL, Ngu MS, Alyea GL, Kane MS, Roncaglia P, Sid E, Thaxton CL, Wood V, Abraham RS, Achatz MI, Ajuyah P, Amberger JS, Babb L, Baker J, Balhoff JP, …. Vanderver A, Wagner AH, Webb RF, Welter D, Yaya-Stupp D, …See abstract for full author list. Mondo: Integrating Disease Terminology Across Communities. Genetics. 2025 Oct 6: Online ahead of print. PMID: 41052288

van Voorst RJ, Schoenmakers DH, Bonkowsky JL, Vanderver A, Krägeloh-Mann I, Bernard G, Bertini E, Fatemi A, Sgobbi PV, Wolf NI, Groeschel S, Tonduti D, Sevin C, Orthmann-Murphy JL, Schöls L, Salsano E, Brais B, Jaffe N, Ter Horst KW, Hannema SE, Hayes KG, Meyburg J, van Heerde M, Sbrocchi AM, van Spaendonk R, Thiffault I, Hofsteenge GH, Sudmeier-Broek C, Timmer C, Skwirut D, Buck A, Hollberg B, Chapleau R, Dekker H, Campbell SG, Abbink TEM, Leferink PS, van der Knaap MS. Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter. Neurology. 2025 Dec 9;105(11):e214320.Epub 2025 Nov 13. PMID: 41232062

Waldman AT, Takanohashi A, Joung JY, Liu GW, Arnold K, Pizzino A, Faig W, Woidill S, Narula S, Vanderver AL. Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease. Ann Clin Transl Neurol. 2026 Jan 9. doi: 10.1002/acn3.70305. Online ahead of print. PMID: 41513585

Le A, Thibault KA, Yazdani PA, Chapleau A, van Voorst RJ, Bertini E, Nicita F, Pohl D, Venkateswaran S, Keller S, Renaud D, Gonzalez Moron D, Kauffman M, De Assis Pereira D, Vanderver A, van der Knaap MS, Morsa M, Bernard G. The Impact of RNA Polymerase III-Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study. Pediatr Neurol. 2025 Dec 16;176:31-40. PMID: 41518854

2024

Kilich G, Hassey K, Behrens EM, Falk M, Vanderver A, Rader DJ, Cahill PJ, Raper A, Zhang Z, Westerfer D, Jadhav T, Conlin L, Izumi K, Rajagopalan R, Sullivan KE; UDN Consortium. Kagami Ogata syndrome: a small deletion refines critical region for imprinting. NPJ Genom Med. 2024 Jan 11;9(1):5. PMID: 38212313 

Garcia L, Gonzalez CD, Gagne A, McGuire JA, French D, Takanohashi A, Almad A, Vanderver A, Sase S. Generation of three induced pluripotent stem cell lines from individuals with Aicardi-Goutières syndrome caused by a c.3019G>A (p.G1007R) autosomal dominant pathogenic variant in ADAR1. Stem Cell Res. 2024 Feb;74:103299. Epub 2023 Dec 28. PMID: 38181636

de Barcelos IP, Woidill S, Gavazzi F, Modesti NB, Sevagamoorthy A, Vanderver A, Adang L. Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutieres Syndrome (AGS). Mol Genet Metab. 2024 Feb 13;142(1):108346.PMID: 38368708

Gavazzi F, Gonzalez CD, Arnold K, Swantkowski M, Charlton L, Modesti N, Dar AA, Vanderver A, Bennett M, Adang LA. Nucleotide metabolism, leukodystrophies, and CNS pathology. J Inherit Metab Dis. 2024 Feb 29. Online ahead of print. PMID: 38421058 

Armangue T, Whitehead MT, Tonduti D,  Farina L, Tavasoli AR, Vossough A,  Bennett M, Vaia Y,  Bernard G,  Mercimek-Mahmutoglu S, Waldman A,  Vanderver A, Brainstem chipmunk sign: a diagnostic imaging clue across all subtypes of Alexander disease. American Journal of Neuroradiology, AJNR Am J Neuroradiol. 2024 May 2. PMID: 38697787

Cusack S, Gavazzi F, Barcelos I, Modesti N, Woidill S,  Formanowski B, DeMauro S, Lorch S, Vincent A, Jawad A,  Estilow T, Glanzman A, Vanderver A,  Adang L,  Characterization of fine motor and visual motor skills in Aicardi-Goutières Syndrome. J Child Neurol. 2024 Mar 27. PMID: 38532733

Adang LA, Sevagamoorthy A, Sherbini S, Fraser JL, Bonkowsky JL, Gavazzi F, D’Aiello R, Modesti N, Yu E, Mutua S, Kotes E, Shults J, Vincent A, Emrick LT, Keller S, Van Haren KP, Woidill S, Barcelos I, Pizzino A, Schmidt JL, Eichler F, Fatemi A, Vanderver A. Longitudinal Natural History Studies based on Real-World Data in Rare Diseases: Opportunity and a Novel Approach. Molecular Genetics and Metabolism, Mol Genet Metab. 2024 May;142(1):108453. Epub 2024 Mar 18. PMID: 38522179 Review.

Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L, Vanderver A. Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States. Cytotherapy. 2024 Apr 1:S1465-3249(24)00579-6. Online ahead of print. PMID: 38613540 

Tricoli L, Sase S, Hacker J, Pham V, Smith S, Chappell M, Breda L, Hurwitz S, Tanaka N, Castracani CC, Guerra A, Hou Z, Schlotawa L, Radhakrishnan K, Kurre P, Ahrens-Nicklas R, Adang L, Vanderver A, Rivella S. Effective Gene Therapy for Metachromatic Leukodystrophy Achieved with Minimal Lentiviral Genomic Integrations. bioRxiv [Preprint]. 2024 Mar 14. PMID: 38559013 

Gold J, Stefanatos AK, Fraser JL, Vanderver A, Cuddapah S. Enasidenib-induced Hepatitis In An Individual With Type Ii D2-hydroxyglutaric Aciduria. JIMD reports. 2024 Apr 16;65(3):156-162. PMID: 38736636

Gavazzi F, Vaia Y, Woidill S, Formanowski B, Barcelos de Peixoto I,  Sevagamoorthy A, Modesti NB, Vincent A, D’Aiello R, Jawad A, Galli J, Varesio C, Fazzi E, Orcesi S, Glanzman AB, Lorch SA,3DeMauro SB, Waldman A, Vanderver A, Adang L.  Non-verbal cognitive skills in children with Aicardi Goutières Syndrome, Neurology. J Child Neurol. 2024 Aug 4. PMID: 31559893

Thorpe E, Williams T, Shaw C, Chekalin E, Ortega J, Robinson K, Button J, Jones MC, del Campo M, Basel D, McCarrier J, Davis  Keppen L, Royer E, Foster-Bonds R, Duenas Roque MM, Urraca N, Bosfield K, Brown CW, Lydigsen H, Mroczkowski HJ, Ward J, Sirchia F, Giorgio E, Vaux K, Peña Salguero H, Lumaka Zola A, Mubungu G, Makay P, Ngole M, Lukusa P, Vanderver A, Muirhead K, Sherbini O, Lah MD, Anderson K, Bazalar-Montoya J, Rodriguez RS, Cornejo-Olivas M, Milla-Neyra K, Shinawi M, Magoulas P, Gibson HD, Wiafe S, Jayakar P, Salyakina D, Masser-Frye D, Serize A, Perez JE, Taylor A, Shenbagam S, Abou Tayoun A, Malhotra A, Bennett M, Rajan V, Avecilla J, Warren A, Arseneault M, Kalista T, Crawford A, Ajay SS, Perry DL, Belmont J, Taft RJ. The impact of clinical genome sequencing in a global population with suspected rare genetic disease. Am J Hum Genet. 2024 Jun 3:S0002-9297(24)00169-1. PMID: 38843839

Adang LA, D'Aiello R, Takanohashi A, Woidill S, Gavazzi F, Behrens EM, Sullivan KE, Goldbach-Mansky R, de Jesus AA, Workgroup AGS, Vanderver A, Shults J. Interferon signaling gene expression as a diagnostic biomarker for monogenic interferonopathies. JCI Insight. 2024 Jun 11:e178456. Online ahead of print. PMID: 38885315

Adang LA, Groeschel S, Grzyb C, D'Aiello R, Gavazzi F, Sherbini O, Bronner N, Patel A, Vincent A, Sevagamoorthy A, Mutua S, Muirhead K, Schmidt J, Pizzino A, Yu E, Jin D, Eichler F, Fraser JL, Emrick L, Van Haren K, Boulanger JM, Ruzhnikov M, Sylvain M, Nguyen CÉ, Potic A, Keller S, Fatemi A, Uebergang E, Poe M, Yazdani PA, Bernat J, Lindstrom K, Bonkowsky JL, Bernard G, Stutterd CA, Orchard P, Gupta AO, Ljungberg M, Groenborg S, Zambon A, Locatelli S, Fumagalli F, Elguen S, Kehrer C, Krägeloh-Mann I, Shults J, Vanderver A, Escolar ML. Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy. Mol Genet Metab. 2024 Jun 29;142(4):108521. PMID: 38964050

Nomakuchi TT, Teferedegn EY, Li D, Muirhead KJ, Dubbs H, Leonard J, Muraresku C, Sergio E, Arnold K, Pizzino A, Skraban CM, Zackai EH, Wang K, Ganetzky RD, Vanderver AL, Ahrens-Nicklas RC, Bhoj EJK. Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes. Am J Med Genet A. 2024 Jul 19:e63817. PMID: 39031459

Peixoto de Barcelos I,  Jan AK,  Modesti N,  Woidill S, Gavazzi F, Isaacs D,  D'Aiello R,  Sevagamoorthy A, Charlton L,  Pizzino A,  Schmidt J, van Haren K, Keller S, Eichler F,  Emrick L,  Fraser J,   Shults J, Vanderver A, Adang A. Systemic complications of Aicardi Goutières Syndrome using real world data. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108578. doi: 10.1016/j.ymgme.2024.108578. Epub 2024 Sep 15. PMID: 39332260

Oudejans E, van Rooijen-van Leeuwen G, Takanohashi A,  van der Sluis S, Abbink TEM, Vanderver A, van der Knaap MS. ISR mRNAs as potential blood biomarkers in patients with vanishing white matter. Brain Disorder, in press

Kornbluh AB, Baldwin A, Fatemi A, Vanderver A, Adang L, van Haren K, Sampson JB, Eichler F, Seyedsadjadi R, Engelen M, Orthmann-Murphy J, A practical approach to longitudinal neurological care of adults with X-linked adrenoleukodystrophy and adrenomyeloneuropathy (ALD/AMN). Neurol Genet. 2024 Oct 3;10(5):e200192. eCollection 2024 Oct. PMID: 39372123.

Lentini L, Toutounchi H, Chapleau A, Le A, Fournier S, Emari F, Flamini R, Rossi A, Gentile A, Bertini E, Nicita F, Pohl D, Venkateswaran S, Keller S, Rossignol E, Renaud D, Assis Pereira D, Chen X, Vanderver A, Bernard G. Stress and Quality of Life of Parents of Children with POLR3-RelatedLeukodystrophy: A Cross-Sectional Pilot Study.J Child Neurol. 2024 Oct 21:8830738241283171. Online ahead of print. PMID: 39429022

Mutua S, Sevagamoorthy A, Woidill S, Orchard PJ, Gavazzi F, MacFarland SP, Russo P, Vanderver A, Adang LA. Characterization of gallbladder disease in metachromatic leukodystrophy across the lifespan. Mol Genet Metab. 2024 Dec 22;144(1):109003. PMID: 39733668

2023

Mirchi A,  Guay SP, Tran LT,  Wolf NI, Vanderver A, Brais B, Sylvain M, Pohl D, Rossignol E, Saito M,  Moutton S, Gutierrez-Solana LG,  Thiffault I,   Gonzales Moron D,  Kauffman M, Shiffmann R, Goizet C,  Sztriha L,  Glamuzina E,  Melançon S, Sakkubai N, Retrouvey JM,  Lacombe S,  De Bie I,  Bernard G, MD, Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C. Journal of Medical Genetics. J Med Genet. 2023 Oct;60(10):1026-1034. Epub 2023 May 16. PMID: 37197783

Al-Saady M, Beerepoot S, Plug B, Breur M, Galabova H, Pouwels P, Boelens JJ, Lindemans C, van Hasselt P, Matzner U, Vanderver A, Bugiani M, van der Knaap MS, Wolf N. Neurodegenerative disease after haematopoietic stem cell transplantation in metachromatic leukodystrophy. Annals of Clinical and Translational Neurology, 2023 May 22. Online ahead of print. PMID: 37212343

Almad AA, Garcia L, Takanohashi A, Gagne A, Yang W, Ann McGuire J, French D, Vanderver A. Generation of three induced Pluripotent Stem Cell lines from individuals with Hypomyelination with Atrophy of Basal Ganglia and Cerebellum caused by a c.745G>A (p.D249N) autosomal dominant mutation in TUBB4A. Stem Cell Res. 2023 Mar 26;69:103083. Online ahead of print. PMID: 37003180

Gavazzi F, Patel V, Charsar B, Glanzman A, McKenzie E, Kornafel T,  Balance E, Harrington A, Pierce SR, Teng M, Formanowski B, Woidill S, Shults J, Williams D, Wassmer E, Tonduti D, Francesca M, Bernard G, van der Knaap MS,  Wolf N, Adang L, Vanderver A, Gross Motor function in pediatric onset TUBB4A-related Leukodystrophy: GMFM-88 performance and validation of GMFC-MLD in TUBB4A" Journal of Child Neurology, 2023 July 17. PMID: 37461315 

Gavazzi F,  Glanzman A, Woidill S, Formanowski B,  Dixit A, Isaacs D, Kornafel T, Balance E, Pierce S, Modesti N, Barcelos I, Cusack S,  Jan A, Flores Z, Sherbini O, Vincent A, D'Aiello R,  Lorch S,  DeMauro S, Jawad A, Vanderver A, Adang L. Exploration of Gross Motor Function in Aicardi Goutières Syndrome (AGS).  Journal of Child Neurology, 2023 July 27. PMID: 37499181

Armangue T, Olivé-Cirera G, Martínez-Hernandez E, Rodes M, Peris-Sempere V, Guasp M, Ruiz R, Palou E, González A, Marcos MÁ, Erro ME, Bataller L, Corral-Corral Í, Planagumà J, Caballero E, Vlagea A, Chen J, Bastard P, Materna M, Marchal A, Abel L, Cobat A, Alsina L, Fortuny C, Saiz A, Mignot E, Vanderver A, Casanova JL, Zhang SY, Dalmau J. Neurologic complications in herpes simplex encephalitis: clinical, immunological and genetic studies. Brain 15 July 2023, online ahead of print. PMID: 37453099

Schoenmakers DH, Leferink PS, Vanderver A, Bonkowsky JL, Krägeloh-Mann I, Bernard G, Bertini E, Fatemi A, Fogel BL, Wolf NI, Skwirut D, Buck A, Holberg B, Saunier-Vivar EF, Rauner R, Dekker H, van Bokhoven P, Stellingwerff MD, Berkhof J, van der Knaap MS. Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates. BMC Neurol. 2023 Aug 17;23(1):305. PMID: 37592248. 
166.    Ahmed F, Do N, Vanderver A, Treat JR, Dyschromatosis symmetrica hereditaria: a clue to early diagnosis of Aicardi-Goutières syndrome. Pediatric Dermatology 2023 Sep 28. Online ahead of print. PMID: 37770123.

Adang LA, Mowafy S, Herbst ZM, Zhou Z, Schlotawa L, Radhakrishnan K, Bentley B, Pham V, Yu E, Pillai NR, dys PJ, De Castro M, Vanderver A, Pasquali M, Gelb MH, Ahrens-Nicklas RC. Biochemical signatures of disease severity in multiple sulfatase deficiency. J Inherit Metab Dis. 2023 Oct 23. doi: 10.1002/jimd.12688. Online ahead of print. PMID: 37870986

Wong KN, Botto LD, He M, Baker PR 2nd, Vanderver A, Bonkowsky JL. Novel SLC13A3 Variants and Cases of Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation and Literature Review. Neurol Genet. 2023 Sep 26;9(6):e200101. eCollection 2023 Dec. PMID: 38235040  

2022

Casas-Alba D, Darling A, Caballero E, Mensa A, Bartrons J, Antón J, García-Cazorla A, Vanderver A, Armangué T, Efficacy of baricitinib on chronic pericardial effusion in a patient with Aicardi-Goutières syndrome. Rheumatology. 2022 April 61(4), e87–e89. PMID: 34850826

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. 2022 Feb 2;8(2):e657. eCollection 2022 Apr.PMID: 35128050

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. 2022 Jan 31. PMID: 35099671

Husain R, Vanderver A. Expanded phenotype of AARS1-related white matter disease. Response to Leidi et al. Genetics in Medicine, 2022 Feb 14:S1098-3600(22)00027-2. PMID: 34446925, 

Stellingwerff MD, Nulton C, Helman G, Roosendaal S, Benko W, Pizzino A, Bugiani M, Vanderver A, Simons C, van der Knapp MS. Early-onset vascular leukoencephalopathy caused by biallelic NOTCH3 variants. Neurogenetics. 2022 Jan 31. PMID: 35099671

Gedik KC*, Lamot L*, Romano M*, Demirkaya E, Piskin D, Torreggiani S, Adang L, Armangue T, Barchus K, Cordova DR, Crow YJ, Dale RC, Durrant KL, Eleftheriou D, Fazzi E, Gattorno M, Gavazzi F, Hanson EP, Lee-Kirsch MA, Montealegre Sanchez GA, Neven B, Orcesi S, Ozen S, Poli C, Schumacher E, Tonduti D, Uss K, Aletaha D, Feldman BM, Vanderver A, Brogan P, Goldbach-Mansky R. The 2021 EULAR and ACR points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS. Annals of the Rheumatic Diseases,  2022 Jan 27. PMID: 35086813

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. 2022 Mar 21.  PMID: 35315249

Calame DG, Herman I, Marshall AE, Maroofian R, Donis KC, Fatih JM, Mitani T, Du H, Grochowski CM, Sousa S, Bakhtiari 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, 2022 Apr 26. PMID: 35471564

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, AJNR Am J Neuroradiol. 2022 Jun 30. PMID: 35772801

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. 2022 Jul 5:104551. doi: 10.1016/j.ejmg.2022.104551. PMID: 35803560.

Wu K, Takanohashi A, Woidill S, Seylani A, Helman G, Dias P, Beers J, Lin Y, Simons C, Wolvetang E, Zou J, Vanderver A, Sack MN, Generation of human induced pluripotential stem cells from individuals with complex heterozygous, isogenic corrected, and homozygous Bloc1s1 mutations, Stem Cell Research. 2022 Aug 30;64:102905. Online ahead of print. PMID: 36070637

Takanohashi A, Alameh MG, Woidill S,  Hacker J, Davis B, Helman G, Gavazzi F, Adang L,  D’Aiello R,  Winters P, Cordova D, Khandaker T, Ni H, Tam Y, Lin P, Weissman D, Shults J, Vanderver A SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome, Mol Genet Metab. 2022 Dec;137(4):320-327. doi: 10.1016/j.ymgme.2022.10.001. Epub 2022 Oct 10. PMID: 36334423

Modesti NB, Evans SH, Jaffe N, Vanderver A, Gavazzi F. Early recognition of patients with leukodystrophies. Curr Probl Pediatr Adolesc Health Care. 2022 Dec;52(12):101311. doi: 10.1016/j.cppeds.2022.101311. Epub 2022 Dec 2. PMID: 36470810.

Harting I, Garbade SF, Rosendaal SD, Mohr A, Sherbini O, Vanderver A, Wolf NI. Identification of PMD subgroups using a myelination score for PMD. Eur J Paediatr Neurol. 2022 Nov;41:71-79. PMID: 36368233 

2021

Mallack EJ, Turk BR, Yan H, Price C, Demetres M, Moser AB, Becker C, Hollandsworth K, Adang L, Vanderver A, Van Haren K, Ruzhnikov M, Kurtzberg J, Maegawa G, Orchard PJ, Lund TC, Raymond GV, Regelmann M, Orsini JJ, Seeger E, Kemp S, Eichler F, Fatemi A. MRI Surveillance of Boys with X-linked Adrenoleukodystrophy Identified by Newborn Screening: Meta-analysis and Consensus Guidelines. J Inherit Metab Dis. 2021 May;44(3):728-739. doi: 10.1002/jimd.12356. Epub 2021 Jan 9. PMID: 33373467

Gavazzi F, Cross ZM, Woidill S, McMann JM, Rand EB, Takanohashi A, Ulrick N, Shults J, Vanderver AL, Adang L. Hepatic Involvement in Aicardi-Goutières Syndrome. Neuropediatrics 2021 Jan 14. PMID: 33445189

Adang L, Goldbach-Mansky R, Vanderver A. JAK Inhibition in the Aicardi-Goutieres Syndrome. Reply. N Engl J Med. 2020 Nov 26;383(22):2191-2193.PMID: 33252885

Gavazzi F, Charsar BA, Williams C,  Shults J, Alves CA, Adang L, Vanderver A, Acquisition of Developmental Milestones in Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related Leukoencephalopathy, J Child Neurol. 2021 Sep;36(10):805-811. PMID: 34514881

Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Vertemati Secches T, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny P, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM, Faivre L, Banka S, Wang T, Eichler EE, Priolo M, Dallapiccola B, Visser LELM, Sadikovic B, Scott DA, Holder JL, Tartaglia M,  SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome and is associated with a distinctive episignature of the X chromosome in females. Am J Hum Genet. 2021 Mar 4;108(3):502-516. Epub 2021 Feb 16. PMID: 33596411

Helman G,  Zerem A,  Almad A,  Hacker JL, Woidill A, Sase S, LeFevre AN, Ekstein J, Johansson MM, Stutterd CA, Taft RJ,  Simons C, Grinspan JB, Pizzino A, Schmidt JL, Harding B, Hirsch Y, Viaene AN, Fattal-Valevski  A, Vanderver A, Further delineation of the clinical and pathologic features of HIKESHI-related hypomyelinating leukodystrophy. Pediatric Neurology, 2021 May 14;121:11-19. PMID: 34111619

Cappuccio G, Berti CC, Baruffini E, Sullivan J, Shashi V, Jewett T, Stamper T, Maitz S, Canonico A, Revah A, Kupchik GS, Anyane K, Aggarwal V, Benneche A, Bratland E, Berland S, D'Arco F, Alves CA, Vanderver A, Longo D, Bertini E, Torella A, Nigro V, Telethon Undiagnosed Diseases Program, D'Amico A, van der Knaap MS, Goffrini P, Brunetti N‚ Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multi-system disease. Human Mutation, 2021 Jun;42(6):745-761. Epub 2021 May 11.PMID: 33942428

Barczykowski AL, Langan TJ, Vanderver A, Jalal K, Carter RL. Death Rates in the U.S. Due to Leukodystrophies with Pediatric Forms, American Journal of Medical Genetics Part A, 2021 Aug;185(8):2361-2373. Epub 2021 May 7. PMID: 33960638

Helman G, Mendes MI, Nicita F, Darbelli L, Sherbini O, Moore T, Derksen A, Pizzino A, Carrozzo R, Torraco A, Catteruccia M, Aiello C, Goffrini P, Figuccia S, Smith DEC, Hadzsiev K, Hahn A, Biskup S, Brösse I,  Kotzaeridou U, Gauck D, Grebe TA, Elmslie F, Stals K, Gupta R, Bertini E, Thiffault I, Taft RJ, Schiffmann R, Brandl U, Haack TB, Salomons GS, Simons C, Bernard G, van der Knaap MS, Vanderver A, Husain RA. Expanded phenotype of AARS1-related white matter disease. Genetics in Medicine, 2021 Dec;23(12):2352-2359. Epub 2021 Aug 27.PMID: 34446925

Roosendaal SD, van de Brug T, Alves CAPF, Blaser S, Vanderver A, Wolf NI, van der Knaap MS. Imaging Patterns Characterizing Mitochondrial Leukodystrophies. AJNR Am J Neuroradiol. 2021 Jul;42(7):1334-1340. Epub 2021 Apr 1. PMID: 34255734

Gavazzi F, Fraser J, Bloom M, Tochen L, Rhee J, Kwan M, Victoria T, Teachey D, Cho C, Vanderver A, Hodgkin Lymphoma in an individual with TREX1 mediated Aicardi Goutières Syndrome. Pediatr Blood Cancer. Pediatr Blood Cancer. 2022 Jan;69(1):e29322. Epub 2021 Sep 7. PMID: 34490982

Gavazzi F, Adang L, Waldman A, Jan AK, Liu G, Lorch SA, DeMauro SB, Shults J, Pierce SR, Ballance E, Kornafel T, Harrington A, Glanzman AM, Vanderver A. Reliability of the Telemedicine Application of the Gross Motor Function Measure-88 in Patients With Leukodystrophy. Pediatr Neurol. 2021 Dec;125:34-39. Epub 2021 Sep 24. PMID: 34624609

Muirhead KJ, Clause AR, Schlachetzki Z, Dubbs H, Perry DL, Tanner Hagelstrom, Taft RJ, and Vanderver A. Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndrome. Molecular Case Studies, Cold Spring Harbor Laboratories, 2021 Dec 9;7(6):a006143. Print 2021 Dec. PMID: 34737199

2020

Bursle C, Yiu EM, Yeung A, Freeman JL, Stutterd C, Leventer RJ, Vanderver A, Lee J, Hyperinsulinaemic hypoglycaemia: a rare association of vanishing white matter disease. JIMD Rep. 2019 Nov 12;51(1):11-16. eCollection 2020 Jan. PMID: 32071834

Helman G, Lajoie BR, Crawford J, Takanohashi A, Walkiewicz M, Dolzhenko E, Gross AM, Gainullin VG, Bent SJ, Jenkinson EM, Ferdinandusse S, Waterham HR, Dorboz I, Bertini E, Miyake N, Wolf NI, Abbink TEM, Kirwin SM, Tan CM, Hobson GM, Guo L, Ikegawa S, Pizzino A, Schmidt JL, Bernard G, Schiffmann R, van der Knaap MS, Simons C, Taft RJ, Vanderver A, Genome sequencing in persistently unsolved white matter disorders" Ann Clin Transl Neurol. 2020 Jan 7. PMID: 31912665

Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL, Hur S, Crow YJ. Genetic and phenotypic spectrum associated with IFIH1 gain-of-function. Hum Mutat. 2020 Jan 3. PMID: 31898846

Mendes M, Green, L, Bertini, E, Aiello, C, Tonduti, D, Smith, D, Salsano, E, Beerepoot, S, Hertecant, J, von Spiczak, S, Livingston, J, Emrick, L, Fraser, J, Russell, L, Bernard, G, Di Bella, D,  Magri, S, Taroni, F, Koenig, MK, Moroni, I, Cappuccio, G, Brunetti-Pierri, N, Rhee, J, Mendelsohn, B, Helbig, I, Helbig, K, Muhle, H, Ismayl, O, Vanderver, A, Salomons, G, van der Knaap, MS, Wolf, N,  RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.  Ann Clin Transl Neurol. 2020 Jan;7(1):83-93 PMID: 31814314.

Hong X, Kumar AB, Daiker J, Yi F, Sadilek M, De Mattia F, Fumagalli F, Calbi V, Damiano R, Bona M, la Marca G, Vanderver A, Waldman A, Adang L, Sherbini O, Woidill S, Suhr T, Kurtzberg J, Beltran-Quintero M, Escolar M, Aiuti A, Gelb M, Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry, Anal Chem. 2020 Jan 10. [Epub ahead of print] PMID: 31922725

Wolf NI, Breur M, Plug B, Beerepoot S,. Westerveld ASR,. van Rappard DF, de Vries SI, Kole MHP, Vanderver A, van der Knaap MS, Lindemans CA, van Hasselt PM, Boelens JJ, Matzner U, Gieselmann V, Bugiani M, Metachromatic leukodystrophy and transplantation: Remyelination, no cross-correction. Ann Clin Transl Neurol. 2020 Feb;7(2):169-180. Epub 2020 Jan 22.PMID: 31967741 

Armangue T, Olivé-Cirera G, Martínez-Hernandez E, Sepulveda M, Ruiz-Garcia R, Muñoz-Batista, M, Ariño H,  González-Álvarez V, Felipe-RuciánA, Martínez-González MJ, Cantarín-Extremera V, Miranda-Herrero MC, Monge-Galindo L, Tomás-Vila M, Miravet E, Málaga I, Arrambide G, Auger C, Tintore M, Montalban X, Vanderver A, Graus F, Saiz A, Dalmau J. Investigations on Pediatric Demyelinating and Encephalitic Syndromes Associated with Myelin Oligodendrocyte Glycoprotein Antibodies. Lancet Neurol. 2020 Mar;19(3):234-246. Epub 2020 Feb 10. PMID: 32057303

Helman G, Takanohashi A, Hagemann TAL, Perng MD, Walkiewicz M, Woidill S, Sase S, Cross Z, Du Y, Zhao L, Waldman A, Haake BC, Fatemi A, Brenner M, Sherbini O, Messing A, Vanderver A*, Simons C*. Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform. Human Mutation. 2020 Mar 3. PMID:32126152

Helman G, Viaene AN, Takanohashi A, Breur M, Berger R, Woidill S, Cottrell JR, Schiffmann R, Crow YJ, Simons C, Bugiani M, Vanderver A. Cerebral Microangiopathy in Leukoencephalopathy with Cerebral Calcifications and Cysts: a pathological description. Journal of Child Neurology J Child Neurol. 2020 Sep 2.  PMID: 32988269

Adang LA, Pizzino A, Malhotra A, Dubbs H, Williams C, Sherbini O, Anttonen AK, Lesca G,  Linnankivi T, Laurencin C, Milh M, Perrin C, Schaaf CP, Poulat AL, Ville D, Hagelstrom T, Perry DL, Taft RJ, Goldstein A, Vossough A, Helbig I, Vanderver A. Phenotypic and imaging spectrum associated with WDR45. Pediatr Neurol. 2020 Mar 11:S0887-8994(20)30084-9. PMID: 32387008.

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. 2020 Jun;130(2):153-160. Epub 2020 Apr 2.PMID: 32279991

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. 2020 Apr 13:S0887-8994(20)30122-3.PMID: 32446642

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. 2020 May 28;9:e52986. PMID: 32463361 

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. 2020 Apr 28. PMID: 32342562

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. 2020 Jun 3;29(9):1568-1579. PMID: 32356556

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. 2020 Jun 23. PMID: 32573057

Malhotra A, Ziegler A, Li S, Perrier R, Amlie-Wolf L, Wohler E, Sobreira N, Colin E, Vanderver A, Sherbini O,Stouff K, Scalais E, Serretti A, Barth M, Navet B, Rollier P, Hui X, Hua W, Hainan Z Perry DL, Ferrarini A, Colombo R, Pepler A, Schneider A, Tomiwa K, Okamoto N, Matsumoto N, Miyake N, Taft R, Mao X, Bonneau D,  ,De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features. J Med Genet. 2021 Oct;58(10):712-716. doi: 10.1136/jmedgenet-2020-107137. Epub 2020 Aug 20.PMID: 32820033

Pelletier F, Perrier S, Cayami FK, Mirchi A,  Saikali S,  Tran LT,  Ulrick N,  Guerrero K, Rampakakis E, van Spaendonk RML,  Naidu S,  Pohl D, Gibson WT, Demos M,  Goizet C,  Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sebire G, Lourenço CM,  Bonkowsky JL,  Catsman-Berrevoets C,  Pinto PS,  Tirupathi S, Strømme P,  de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H,  Rankin J,  Atik T, Banwell B, Benko WS,  Blaschek A,  Bley A,  Boltshauser E, Bratkovic D,  Brozova K,  Cimas I,  Clough C, Corenblum B, Dinopoulos A,  Dolan G,  Faletra F,  Fernandez R,  Fletcher J,  Garcia Garcia ME,  Gasparini P, Gburek-Augustat J,  Gonzalez Moron D, Hamati A,  Harting I,  Hertzberg C,  Hill A,  Hobson GM,  Innes AM, Kauffman M,  Kirwin SM,  Kluger G, Kolditz P,  Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M,  McKenzie F,  Melançon S,  Misbahuddin A, Suri M, Monton FI,  Moutton S,  Murphy RPJ,  Nickel M, Onay H,  Orcesi S,  Özkınay F,  Patzer S, Pedro H,  Pekic S,  Pineda Marfa M,  Pizzino A,  Plecko B, Poll-The BT, Popovic V,  Rating D,  Rioux MF, Rodriguez Espinosa N, Ronan A,  Ostergaard JR,  Rossignol E, Sanchez-Carpintero R,  Schossig A, Senbil N,  Sønderberg Roos LK,  Stevens CA, Synofzik M,  Sztriha L, Tibussek D, Timmann D, Tonduti D, van de Warrenburg BP, Vázquez-López M,  Venkateswaran S,  Wasling P, Wassmer E,  Webster RI, Wiegand G,  Yoon G,  Rotteveel J, Schiffmann R,  van der Knaap MS,  Vanderver A, Martos-Moreno GA,  Polychronakos C,  Wolf NI,  Bernard G, Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. Journal of Clinical Endocrinology and Metabolism 2021 Jan 23;106(2):e660-e674. PMID: 33005949

Vanderver A, Adang L,  Gavazzi F, McDonald K, Helman G,  Frank DB,  Jaffe N,  Yum SW,  Collins A,  Keller SR,  Lebon P,  Meritet JF,  Rhee J,  Takanohashi A,  Armangue T,  JAGA study Team, Shults J,  Janus kinase inhibition in Aicardi Goutières Syndrome, New England Journal of Medicine, 2020 Sep 3;383(10):986-989. PMID: 32877590 

Bryant L,, Li D,  Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga K, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho M, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino C, Retterer K, Schuette JL, Innis JW, Pizzino A, Lüttgen S, Denecke J, Strom TM, Monaghan KG,  DDD Study, Yuan ZF, Crump JG,  Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Günthner R,  Reutter H, Keren B, Radtke H, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S,  Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Õunap K, Ilves P, Innes AM, Kernohan KD, Care4Rare Canada Consortium, Costain G, Meyn MA, Chitayat D, Zackai E, Lehman A, Kitson H, CAUSES Study, Martin MG, Martinez-Agosto JA, Nelson SF, Palmer CGS, Papp JC, Parker NH,  Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli DC, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson M, McWalter K, Stumpe CTRM, Stevens SJC, Stegmann APA, Tveten K, Vøllo A, Prescott T, Fagerberg C, Laulund LW, Larsen MJ, Byler M, Lebel RR, Hurst AC, Dean J, Schrier Vergano SA, Norman J, Mercimek-Andrews S, Neira J, Van Allen MI, Longo N, Sellars E, Louie RJ, Cathey SS, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Chung W, Garcia B, Hakonarson HH, Bhoj EJ. Histone H3.3 beyond cancer: Germline mutations in histone 3 family 3A and 3B mechanism of a novel neurodegenerative disorder in 46 patients. Science Advances, 2020 Dec 2;6(49) PMID: 33268356 

Piccoli C,  Bronner N, Gavazzi F, Dubbs H, De Simone M, De Giorgis V, Orcesi S, Fazzi E, Galli J, Masnada S, Tonduti D, Varesio C, Vanderver A, Vossough A, Adang L. Late-onset Aicardi Goutières syndrome: a characterization of presenting clinical features. Pediatric Neurology. 2020 Nov 2;115:1-6. PMID: 33307271

2019

Choquet K, Forget D, Meloche E, Dicaire MJ, Bernard G, Vanderver A, Schiffmann R, Fabian MR, Teichmann M, Coulombe B, Brais B, Kleinman CL.Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200. J Biol Chem. 2019 May 3;294(18):7445-7459. Epub 2019 Mar 21. PMID 30898877

Lenk GM, Berry IR, Stutterd CA, Blyth M, Green L, Vadlamani G, Warren D, Craven I, Fanjul-Fernandez M, Rodriguez-Casero V, Lockhart PJ, Vanderver A, Simons C, Gibb S, Sadedin S, Broad Center for Mendelian Genomics, White SM, Christodoulou J, Skibina O, Ruddle J,  Tan TY, Leventer RJ, Livingston JH and Meisler MH. Cerebral hypomyelination associated with biallelic variants of FIG4. Hum Mutat. 2019 May;40(5):619-630. doi: 10.1002/humu.23720. Epub 2019 Feb 28. PMID:30740813

Al Yazidi G, Tran L, Guerrero K, Vanderver A, Schiffmann R, Wolf N, Sylvain C, Bernard G, Dystonia in RNA polymerase III-related leukodystrophy. Movement Disorders Clinical Practice. 2019 June 9;6(2):155-159. PMID 30898877.

Ikegawa S, Guo L, Romeo Bertola D, Takanohashi A, Saito A, Segawa Y, Yokota T, Yamamoto GL, Franco JF, Honjo RS, Kim CA, Mussoa CM, Timmons M, Amy P, Ryan T, Bryan L, Knigh MA, Fischbeck KH, Singleton AB, Ferreira CR, Wang Z, Yan L, Garbern JY, Ohashi H, Matsumoto N, Miyake N, Spranger J, Schiffmann R, Vanderver A, Nishimura G, Passos-Bueno MR, Simons C, Simsek-Kiper P, Ishibashi S, Nishida Y, Robey P, Boyde A. Bi-allelic CSF1R mutations cause a syndrome characterized by skeletal dysplasia of dysosteosclerosis-Pyle disease spectrum and degenerative encephalopathy with brain malformation. Am J Hum Genet. 2019 May 2;104(5):925-935. Epub 2019 Apr 11. PMID: 30982609.

Zarate Y, Bosanko KA, Caffrey AR, Mark PR, Manning MA, Williams MS, Bhambhani V, Seeley AH, Estrada-Veras JI, van Dooren M, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Berry-Kravis EM, Callewaert B, Oostra A, Maclean J, Bernstein JA, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SIM, Martin DM, Brautbar A, Thropp EK, SnijdersBlock L, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Martinez-Monseny A, Garcia-Miñaúr S, Roeder E, Grange D, Gavrilova R, Pfotenhauer J, Jones MC, Balasubramanian M, Fish JL. Mutation update for the SATB2 gene. Hum Mutat. 2019 Apr 25. PMID: 31021519

Gilani A, Adang LA, Vanderver A, Collins A, Kleinschmidt-DeMasters BK. Neuropathological Findings in a Case of IFIH1-Related Aicardi-Goutières Syndrome. Pediatr Dev Pathol. 2019 Apr 5:1093526619837797. PMID: 30952201

Gavazzi F, Foerster D, Ulrick N, Woidill S, Koh J, Shults J, Galli J, De Giorgis V, Orcesi S, Fazzi E, Vanderver A. Developmental outcomes of Aicardi Goutieres Syndrome patients. J Child Neurol. 2019 Sep 27 PMID:31559893

Vigdorovich N, Ben Sira L, Blumkin L, Precel R, Nezer I, Yosovich N, Cross Z, Vanderver A, Lev D, Lerman-Sagie T, Zerem A, Brain White Matter Abnormalities Associated with Copy Number Variants, Am J Med Genet A. 2019 Oct 17. PMID: 31622028

Gauquelin L, Cayami FK, Sztriha L, Yoon G, Tran LT, Guerrero K, Hocke  F, van Spaendonk RML, Fung EL, D’Arrigo S, Vasco G, Thiffault I, Niyazov DM, Person R, Lewis K, Wassmer E, Prescott T, Fallon P, McEntagart M, Rankin J, Webster R, Philippi H, van de Warrenburg B, Timmann-Braun D, Dixit A, Searle C, DDD Study, Thakur N, Kruer M, Sharma S, Vanderver A, Tonduti D, van der Knaap MS, Bertini E, Goizet C, Fribourg S, Wolf NI, Bernard G, Clinical Spectrum of POLR3-Related Leukodystrophy Caused by POLR1C Mutations. Neurol Genet. 2019 Oct 30;5(6):e369.PMID: 3204290

2018

Nahhas N, Conant A, Orthmann-Murphy J, et al. Pelizaeus-Merzbacher-Like Disease 1. 2017 Dec 21. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.

Helman G, Venkateswaran S, Vanderver A. The spectrum of adult-onset heritable white-matter disorders. Handb Clin Neurol. 2018;148:669-692. doi: 10.1016/B978-0-444-64076-5.00043-0. PMID:29478607

Wells E, Hacohen Y, Waldman A, Tillema JM, Soldatos A, Ances B, Benseler S, Bielekova B, Dale RC, Dalmau J, Gaillard W, Gorman M, Greenberg B, Hyslop A, Pardo CA, Tasker RC, Yeh EA, Bar-Or A, Pittock S, Vanderver A, Banwell B. Neuroimmune disorders of the central nervous system in children in the molecular era. Nat Rev Neurol. 2018 Jun 20. PMID: 29925924

Sase S, Takanohashi A, Vanderver A, Almad A. Astrocytes, an active player in Aicardi-Goutières syndrome. Brain Pathol. 2018 May;28(3):399-407. PMID: 29740948

Hamilton EMC, Tekturk P, Cialdella F, van Rappard DF, Wolf NI, Yalcinkaya C, Çetinçelik Ü, Rajaee A, Kariminejad A, Paprocka J, Yapici Z, Bošnjak VM, van der Knaap MS; MLC Research Group. Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants. Neurology. 2018 Apr 17;90(16):e1395-e1403. Epub 2018 Mar 21. PMID: 29661901

Hamilton EMC, van der Lei HDW, Vermeulen G, Gerver JAM, Lourenço CM, Naidu S, Mierzewska H, Gemke RJBJ, de Vet HCW, Uitdehaag BMJ, Lissenberg-Witte BI; VWM Research Group, van der Knaap MS. Natural History of Vanishing White Matter. Ann Neurol. 2018 Aug;84(2):274-288. doi: 10.1002/ana.25287. Epub 2018 Sep 6.

2017

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

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

Kahn I, Helman G, Vanderver A, Wells EM, Anti-NMDA receptor encephalitis: A survey of treatment progress and prospects from Pediatric Neurologists, Journal of Child Neurology, 2017 Feb;32(2):243-245.PMID: 27872179

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

Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Martí-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Pérez-Dueñas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodríguez-Pombo P, Roubertie A, Stödberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver A, Waldman A, Livingston JH, Crow YJ. Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease. Neuropediatrics. 2017 Jun;48(3):166-184. Epub 2017 Apr 10. PMID:28561207

McNeill NH, Nasca A, Reyes A, Lemoine B, Cantarel B, Vanderver A, Schiffmann R, Ghezzi D, Functionaly pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo. Neurol Genet. 2017 Jul 14;3(4):e162. PMID: 28748214

Armangue T, Orsini JJ, Takanohashi A, Gavazzi F, Conant A, Ulrick N, Morrissey MA, Nahhas N, Helman G, Gordish-Dressman H, Orcesi S, Tonduti D, Stutterd C, van Haren K, Toro C, Iglesias AD, van der Knaap MS, Goldbach Mansky R, Moser AB, Jones RO, Vanderver A, Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots. Mol Genet Metab. 2017 Jul 20. pii: S1096-7192(17)30369-4. PMID: 28739201

Hamilton EMC, Bertini ES, Kalaydjieva L, Morar B, Dojčáková D, Liu J, Vanderver A, Curiel J, Persoon CM, Diodato D, Pinelli L, van der Meij NL, Plecko B, Blaser S, Wolf NI, Waisfisz Q, Abbink TEM, and van der Knaap MS UFM1 founder mutation in the Roma population causes recessive variant of H-ABC. Neurology, 2017 Oct 24;89(17):1821-1828. Epub 2017 Sep 20. PMID:28931644

Dorboz I, Aiello C, Simons C, Stone RT, Niceta M, Elmaleh M, Abuawad M, Doummar D, Brusseles A, Wolf NI, Travaglini L, Boespflug Tanguy O, Tartaglia M, Vanderver A, Rodriguez D, Bertini E.  Biallelic mutations affecting the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy. Brain. 2017 Oct 1;140(10):2550-2556. PMID:28969374

Adang LA, Sherbini O, Ball L, Bloom M, Darbari A, Amartino H, Divito D, Eichler F, Escolar M, Evans SH, Fatemi A, Fraser J, Hollowell L, Jaffe N, Joseph C, Karpinski M, Keller S, Maddock R, Mancilla E, McClary B, Mertz J, Morgart K, Langan T, Leventer R, Parikh S, Pizzino A, Prange E, Renaud D, Rizzo W, Shapiro J, Suhr D, Suhr T, Tonduti D,  Waggoner J, Waldman A, Wolf NI, Zerem A, Bonkowsky JL, Bernard G, van Haren K, Vanderver A. Revised Consensus Statement on the Preventive and Symptomatic Care of Patients with Leukodystrophies.  Molecular Genetics and Metabolism. 2017 Sep;122(1-2):18-32. PMID:28863857

Curiel J, Rodríguez Bey G, Takanohashi A , Bugiani M, Fu X, Wolf NI, Nmezi B, Schiffmann R, Bugaighis M, Pierson T, Helman G, Simons C, van der Knaap MS, Liu J, Padiath Q, Vanderver A. TUBB4A mutations with clinically distinct phenotypes are associated with mutation specific cell selective abnormalities, Human Molecular Genetics 2017 Nov 15;26(22):4506-4518. PMID: 28973395

Perrier S, Gauquelin L, Tétreault M, Tran L, Webb N, Srour M, Mitchell JJ, Brunel-Guitton C, Majewski J, Gambello MJ, Care4Rare Canada, Vanderver A, and Bernard G. Recessive Mutations in NDUFA2 Cause Mitochondrial Leukoencephalopathy, Clin Genet. 2017 Aug 30. PMID:28857146

Miyake N, Wolf NI, Cayami F, Bent SJ, Bley A, Bulas D, Conant A, Crawford J, Gripp KW, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie BR, Lal D, Micha D, Pizzino A, Sinke RJ, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft RJ, Ogata T, Ozono K, Matsumoto N, Neubauer BA, Simons C, Vanderver A, X-linked Hypomyelination with Spondylometaphyseal Dysplasia (H-SMD) associated with mutations in AIFM1. Neurogenetics. 2017 Aug 26. PMID:28842795

2016

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 I,  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

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

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

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

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

Ng YS, Alston CS, Diodato D, Ulrick N, Haghighi A, Kmoch 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

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

2015

Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Ali Fatemi S, Leonard J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, Petryniak M, Rowitch D, Messing A, Wrabetz L, Schiffmann R, Eichler F, Escolar ML, Vanderver A; GLIA Consortium. Disease specific therapies in leukodystrophies and leukoencephalopathies.  Mol Genet Metab. 2015 Apr;114(4):527-536. Epub 2015 Feb 7. Review. PMID: 25684057

Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS; GLIA Consortium. Case definition and classification of leukodystrophies and leukoencephalopathies. Mol Genet Metab. 2015 Apr;114(4):494-500. Epub 2015 Jan 29. PMID: 25649058

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; GLIA Consortium. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephalopathies. Mol Genet Metab. 2015 Apr;114(4):501-515. Epub 2014 Dec 29. PMID: 25655951

Simons C, Griffin LB, Helman G, Golas G, Pizzino A, Bloom M, Murphy JL, Crawford J, Evans SH, Topper S, Whitehead MT, Schreiber JM, Chapman KA, Tifft C, Lu KB, Gamper H, Shigematsu M, Taft RJ, Antonellis A, Hou YM, Vanderver A. Am J Hum Genet. Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect. 2015 Apr 2;96(4):675-81. Epub 2015 Mar 26. PMID: 25817015

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, Faulkner GJ. Ubiquitous L1 mosaicism in hippocampal neurons. Cell. 2015 Apr 9;161(2):228-39Ubiquitous l1 mosaicism in hippocampal neurons. PMID: 25860606

Thiffault I, Wolf NI, Forget D, Guerrero K, Tran LT, Choquet K, Lavallée-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, Zimmermann A, Máté A, Goizet C, Fung E, van der Knaap MS, Fribourg S, Vanderver A, Simons C, Taft RJ, Yates JR, Coulombe B, Bernard G. Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III, Nat Commun. 2015 Jul 7;6:7623. PMID: 26151409.

Richards J, Korgenski EK, Taft R, Vanderver A, Bonkowsky JL. Targeted Leukodystrophy Diagnosis Based on Charges and Yields for Testing, Am J Med Genet A. 2015 Nov;167(11):2541-3. Epub 2015 Jul 16. PMID: 26183797

La Piana R, Uggetti C, Roncarolo F, Vanderver A, Olivieri I, Tonduti D, Helman G, Balottin U, Fazzi E, Crow YJ, Livingston J, Orcesi S. Neuroradiological patterns and novel imaging findings in Aicardi-Goutières syndrome. Neurology. 2016 Jan 5;86(1):28-35. Epub 2015 Nov 18. PMID: 26581299

Messing A, Jany P, Agosta GE, Benko WS, Eickhoff JC, Köehler W, Mar S, Ness JM, Pareyson D, Renaud DL, Rizzo W, Zempel J, Vanderver A, Eichler F, van der Knaap MS.  Cerebrospinal fluid and blood levels of GFAP in Alexander disease, eNeuro. 2015 Oct 1;2(5). eCollection 2015 Sep. PMID: 26478912

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 Rep. 2015;5:103-106.

Cuadrado E, Booiman T, van Hamme JL, Jansen MH, Vanderver A, Rice G, Crow Y, Kootstra NA, Kuijpers TW, ADAR1 facilitates HIV-1 infection in primary CD4+ T cells, PLoS One. 2015 Dec 2;10(12):e0143613. doi: 10.1371/journal.pone.0143613. eCollection 2015.PMID: 26629815 

Helman G, Caldovic L, Whitehead MT, Simons C, Bloom M, Evans SH, Bai R, Brockmann K, Edvardson S, Kurlemann G, Yalcinkaya C, Elsaid MF, Ganesh J, Moroni I, Ardissone A, Wassmer E, Rodenburg RJ, Raiman JAJ, Yavuz H, Reggin JD, Taylor JM, van Haren K, Taft RJ, Vanderver A, van der Knaap MS, MRI spectrum of SDH deficiency-related infantile leukoencephalopathy, Ann Neurol. 2015 Dec 8. doi: 10.1002/ana.24572. PMID: 26642834

2014

Vanderver A, Tonduti D, Kahn I, Schmidt JL, Livija Medne L, Vento J, Chapman K, Lanpher B, Pearl PL, Gropman A, Lourenco C, Bamforth JS, Sharpe C, Pineda M, Schallner J, Bodamer O, Orcesi S, Lesnick Oberstein SAJ, Sistermans EA, Yntema HG, Bonnemann C, Waldman AT, van der Knaap MS “Characteristic Brain Magnetic Resonance Imaging Pattern in PTEN associated disorders.” AJMG, 2014 Mar;164A(3):627-33. PMID: 24375884

Gotoh L, Inoue K, Helman G, Mora S, Maski K, Soul JS, Bloom M, Evans SH, Goto Y, Caldovic L, Hobson GM, Vanderver A. GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease. Mol Genet Metab. 2014 Mar;111(3):393-8. Epub 2013 Dec 16. PubMed PMID: 24374284; PubMed Central PMCID: PMC4183365.

Han S, Lin YC, Wu T, Salgado AD, Mexhitaj I, Wuest SC, Romm E, Ohayon J, Goldbach-Mansky R, Vanderver A, Marques A, Toro C, Williamson P, Cortese I, Bielekova B. Comprehensive immunophenotyping of cerebrospinal fluid cells in patients with neuroimmunological diseases. J Immunol. 2014 Mar 15;192(6):2551-63. Epub 2014 Feb 7. PubMed PMID: 24510966; PubMed Central PMCID: PMC4045479.

King JE, Dexter A, Gadi I, Zvereff V, Martin M, Bloom M, Vanderver A, Pizzino A, Schmidt JL. Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report. J Genet Couns. 2014 Oct;23(5):734-41. Epub 2014 Apr 30. PubMed PMID: 24777551.

Rice GI, del Toro Duany Y, Jenkinson EM, Forte GM, Anderson BH, Ariaudo G, Bader-Meunier B, Baildam EM, Battini R, Beresford MW, Casarano M, Chouchane M, Cimaz R, Collins AE, Cordeiro NJ, Dale RC, Davidson JE, De Waele L, Desguerre I,  Faivre L, Fazzi E, Isidor B, Lagae L, Latchman AR, Lebon P, Li C, Livingston JH,  Lourenço CM, Mancardi MM, Masurel-Paulet A, McInnes IB, Menezes MP, Mignot C, O'Sullivan J, Orcesi S, Picco PP, Riva E, Robinson RA, Rodriguez D, Salvatici E,  Scott C, Szybowska M, Tolmie JL, Vanderver A, Vanhulle C, Vieira JP, Webb K, Whitney RN, Williams SG, Wolfe LA, Zuberi SM, Hur S, Crow YJ. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nat Genet. 2014 May;46(5):503-9. Epub 2014 Mar 30. PubMed PMID: 24686847; PubMed Central PMCID: PMC4004585.

Cuadrado E, Vanderver A, Brown KJ, Sandza A, Takanohashi A, Jansen MH, Anink J, Herron B, Orcesi S, Olivieri I, Rice GI, Aronica E, Lebon P, Crow YJ, Hol EM, Kuijpers TW. Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies. Ann Rheum Dis. 2014 Jun 6. pii: annrheumdis-2014-205396. PubMed PMID: 24906636.

Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TE, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D, van der Knaap MS. Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology. 2014 Jun 10;82(23):2063-71. Epub 2014 May 7. PubMed PMID: 24808023; PubMed Central PMCID: PMC4118500.

Renvoisé B, Chang J, Singh R, Yonekawa S, FitzGibbon EJ, Mankodi A, Vanderver A, Schindler A, Toro C, Gahl WA, Mahuran DJ, Blackstone C, Pierson TM. Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11. Ann Clin Transl Neurol. 2014 Jun 1;1(6):379-389. PubMed PMID: 24999486; PubMed Central PMCID: PMC4078876.

Pouwels PJ, Vanderver A, Bernard G, Wolf NI, Dreha-Kulczewksi SF, Deoni SC, Bertini E, Kohlschütter A, Richardson W, Ffrench-Constant C, Köhler W, Rowitch D, Barkovich AJ. Hypomyelinating leukodystrophies: translational research progress and prospects. Ann Neurol. 2014 Jul;76(1):5-19. Epub 2014 Jun 24. Review. PubMed PMID: 24916848.

Hamilton EM, Polder E, Vanderver A, Naidu S, Schiffmann R, Fisher K, Raguž AB, Blumkin L; H-ABC Research Group, van Berkel CG, Waisfisz Q, Simons C, Taft RJ, Abbink TE, Wolf NI, van der Knaap MS. Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. Brain. 2014 Jul;137(Pt 7):1921-30. Epub 2014 Apr 30. PubMed PMID: 24785942.

Pizzino A, Pierson TM, Guo Y, Helman G, Fortini S, Guerrero K, Saitta S, Murphy JL, Padiath Q, Xie Y, Hakonarson H, Xu X, Funari T, Fox M, Taft RJ, van der Knaap MS, Bernard G, Schiffmann R, Simons C, Vanderver A. TUBB4A de novo mutations cause isolated hypomyelination. Neurology. 2014 Sep 2;83(10):898-902. Epub 2014 Aug 1. PubMed PMID: 25085639; PubMed Central PMCID: PMC4153852 and featured on the cover of the journal

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. 2014 Nov;164A(11):2892-900. Epub 2014 Sep 22. PubMed PMID: 25251875; PubMed Central PMCID: PMC4205164

Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology. 2014 Nov 18;83(21):1898-905. Epub 2014 Oct 22. PubMed PMID: 25339210; PubMed Central PMCID: PMC4248461.

Van Haren K, Bonkowsky JL, Bernard G, Murphy JL, Pizzino A, Helman G, Suhr D, Waggoner J, Hobson D, Patterson MC, Vanderver A; on behalf of the GLIA Consortium. Consensus statement on preventive and symptomatic care of leukodystrophy patients. Mol Genet Metab. 2014 Dec 27. Epub 2014 Dec 27 PubMed PMID: 25577286.

Vanderver A, Prust M, Kadom N, Demarest S, Crow YJ, Helman G, Orcesi S, Piana R, Uggetti C, Wang J, Gordisch-Dressman H, Knaap MS, Livingston JH. Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition. J Child Neurol. 2014 Dec 22. PubMed PMID: 25535058.

Vanderver A, Simons C, Schmidt JL, Pearl PL, Bloom M, Lavenstein B, Miller D, Grimmond SM, Taft RJ. Identification of a novel de novo p. Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy. Pediatr Neurol. 2014 Jan;50(1):112-4. Epub 2013 Oct 10. PubMed PMID: 24120652; PubMed Central PMCID: PMC4303471.

La Piana R, Tonduti D, Gordish Dressman H, Schmidt JL, Murnick J, Brais B, Bernard G, Vanderver A. Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies. J Child Neurol. 2014 Feb;29(2):214-20. Epub 2013 Oct 7. PubMed PMID: 24105487.

Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Luisa Carpanelli M, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, Piana RL, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez D, Roubertie A, Salvatici E, Segers KA, Sinha GP, Soler D, Spiegel R, Stödberg TI, Straussberg R, Swoboda KJ, Suri M, Tacke U, Tan TY, Te Water Naude J, Wee Teik K, Mary Thomas M, Till M, Tonduti D, Maria Valente E, Noel Van Coster R, van der Knaap MS, Vassallo G, Vijzelaar R, Vogt J, Wallace GB, Wassmer E, Webb HJ, Whitehouse WP, Whitney RN, Zaki MS, Zuberi SM, Livingston JH, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice GI. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A. 2015 Feb;167(2):296-312. Epub 2015 Jan 16. PMID:25604658

Wolf NI, Toro C, Kister I, Latif KA, Leventer R, Pizzino A, Simons C, Abbink TE, Taft RJ, van der Knaap MS, Vanderver A. DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder Neurology. 2015 Jan 20;84(3):226-30. Epub 2014 Dec 19. PMID: 25527264

2013

Vanderver A, Tonduti D, Bernard G, Lai J, Rossi C, Carosso G, Quezado M, Wong K, Schiffmann R. More than hypomyelination in Pol-III disorder.  J Neuropathol Exp Neurol. 2013 Jan;72(1):67-75.PMID: 23242285

Daoud H, Tétreault M, Gibson W, Guerrero K, Cohen A, Gburek-Augustat J, Synofzik M, Brais B, Stevens CA, Sanchez-Carpintero R, Goizet C, Naidu S, Vanderver A, Bernard G. Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.  J Med Genet. 2013 Mar;50(3):194-7. PMID: 23355746

Takanohashi A, Prust M, Wang J, Gordish-Dressman H, Bloom M, Rice GI, Schmidt JL, Crow YJ, Lebon P, Kuijpers TW, Nagaraju K, Vanderver A. Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome. Neurology. 2013 Mar 12;80(11):997-1002.PMID: 23408864

Crow YJ, Vanderver A, Orcesi S, Kuijpers TW, Rice GI. Therapies In Aicardi-Goutières Syndrome. Clin Exp Immunol. 2013 Apr 5. PMID:23607857

Kevelam SH, Rodenburg RJ, Wolf NI, Ferreira P, Lunsing RJ, Nijtmans LG, Mitchell A, Arroyo HA, Rating D, Vanderver A, van Berkel CG, Abbink TE, Heutink P, van der Knaap MS. NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern. Neurology. 2013 Apr 23;80(17):1577-83. PMID: 23553477

Simons C, Wolf NI, McNeil N, Caldovic L, Devaney JM, Takanohashi A, Crawford J, Ru K, Grimmond SM, Miller D, Tonduti D, Schmidt JL, Chudnow RS, van Coster R, Lagae L, Kisler J, Sperner J, van der Knaap MS, Schiffmann R, Taft RJ, Vanderver A. A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. Am J Hum Genet. 2013 May 2;92(5):767-73. PMID:23582646

Taft RJ, Vanderver A, Leventer RJ, Damiani SA, Simons C, Grimmond SM, Miller D, Schmidt J, Lockhart PJ, Pope K, Ru K, Crawford J, Rosser T, de Coo IF, Juneja M, Verma IC, Prabhakar P, Blaser S, Raiman J, Pouwels PJ, Bevova MR, Abbink TE, van der Knaap MS, Wolf NI. Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. Am J Hum Genet. 2013 May 2;92(5):774-80. PMID: 23643384

Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Gregorio ED, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS. Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression. Hum Mutat. 2013 May 3. PMID: 23649844

Tonduti D, Vanderver A, Berardinelli A, Schmidt JL, Collins CD, Novara F, Genni AD, Mita A, Triulzi F, Brunstrom-Hernandez JE, Zuffardi O, Balottin U, Orcesi S. MCT8 Deficiency: Extrapyramidal Symptoms and Delayed Myelination as Prominent Features. J Child Neurol. 2013 Jun;28(6):792-7. PMID:22805248

Depienne C, Bugiani M, Dupuits C, Galanaud D, Touitou V, Postma N, van Berkel C, Polder E, Tollard E, Darios F, Brice A, de Die-Smulders CE, Vles JS, Vanderver A, Uziel G, Yalcinkaya C, Frints SG, Kalscheuer VM, Klooster J, Kamermans M, Abbink TE, Wolf NI, Sedel F, van der Knaap MS. Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. Lancet Neurol. 2013 Jul;12(7):659-68. PMID:23707145

Rice G, Forte GM,  Szynkiewicz M, Chase D, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, Barnerias C, Bernard G, Bodemer C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De Laet C, De Goede CG, del Toro M, Effat L, Enamorado NN, Fazzi E, Gener B, Haldre M, S Lin JP, Livingston JH, Lourenco CM, Marques W, Oades P, Peterson P, Rasmussen M, Roubertie A, Schmidt JL Shalev SA, Simon R, Spiegel R, Swoboda KJ, Temtamy, SA, Vassallo G, Vilain CN, Vogt J, Wermenbol V, Whitehouse WP, Soler D, Olivieri I, Orcesi S, Aglan MS, Zaki MS, Abdel-Salam GM, Vanderver A, Kisand K, Rozenberg F, Lebon P,  Crow YJ, Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1 and ADAR1: a case-control study, Lancet Neurology, 2013 Dec;12(12):1159-69. PMID: 24183309

2012

Schmidt JL, Olivieri I, Vento JM, Fazzi E, Gordish-Dressman H, Orcesi S, Vanderver A. Family history of autoimmune disease in patients with Aicardi-Goutières syndrome. Clin Dev Immunol. 2012;2012:206730. PMID:23251212

Tétreault M, Putorti ML, Thiffault I, Sylvain M, Vanderver A, Schiffmann R, Brais B, Bernard G. TACH leukodystrophy: locus refinement to chromosome 10q22.3-23.1.Can J Neurol Sci. 2012 Jan;39(1):122-3. PMID: 22384513

Brown KJ, Vanderver A, Hoffman EP, Schiffmann R, Hathout Y. Characterization of Transferrin Glycopeptide Structures in Human Cerebrospinal Fluid. Int J Mass Spectrom. 2012 Feb 15;312:97-106. PMID: 22408387

La Piana R, Vanderver A, van der Knaap M, Roux L, Tampieri D, Brais B, Bernard G. Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation. Arch Neurol. 2012 Jun;69(6):765-68.PMID:22312164

Steenweg ME, Vanderver A, Ceulemans B, Prabhakar P, Régal L, Fattal-Valevski A, Richer L, Simonetti BG, Barkhof F, Rodenburg RJ, Pouwels PJ, van der Knaap MS. Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement. Arch Neurol. 2012 Jun;69(6):718-22. PMID:22312165

Vanderver A, Tonduti D, Auerbach S, Schmidt JL, Parikh S, Gowans GC, Jackson KE, Brock PL, Patterson M, Nehrebecky M, Godfrey R, Zein WM, Gahl W, Toro C. Neurotransmitter abnormalities and response to supplementation in SPG11. Mol Genet Metab. 2012 Sep;107(1-2):229-33. PMID:22749184

Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M, Kumar R, Lin JP, Lourenco CM, Male AM, Marques W Jr, Mignot C, Olivieri I, Orcesi S, Prabhakar P, Rasmussen M, Robinson RA, Rozenberg F, Schmidt JL, Steindl K, Tan TY, van der Merwe WG, Vanderver A, Vassallo G, Wakeling EL, Wassmer E, Whittaker E, Livingston JH, Lebon P, Suzuki T, McLaughlin PJ, Keegan LP, O'Connell MA, Lovell SC, Crow YJ. Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.  Nat Genet. 2012 Nov;44(11):1243-8. PMID:23001123

Vanderver A, Hussey H, Schmidt JL, Pastor W, Hoffman HJ. Relative incidence of inherited white matter disorders in childhood to acquired pediatric demyelinating disorders. Semin Pediatr Neurol. 2012 Dec;19(4):219-23. PMID:23245555

2011

Formolo CA, Mintz M, Takanohashi A, Brown KJ, Vanderver A, Halligan B, Hathout Y. Time series proteome profiling. Methods Mol Biol. 2011;694:365-77.PMID:21082445

Ah Mew N, Loewenstein JB, Kadom N, Lichter-Konecki U, Gropman AL, Martin JM, Vanderver A. MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency. Pediatr Neurol. 2011 Jul;45(1):57-9. PMID:21723463

Bernard G, Chouery E, Putorti ML, Tétreault M, Takanohashi A, Carosso G, Clément I, Boespflug-Tanguy O, Rodriguez D, Delague V, Abou Ghoch J, Jalkh N, Dorboz I, Fribourg S, Teichmann M, Megarbane A, Schiffmann R, Vanderver A, Brais B. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet. 2011 Sep 9;89(3):415-23. PMID:21855841

Prust M, Wang J, Morizono H, Messing A, Brenner M, Gordon E, Hartka T, Sokohl A, Schiffmann R, Gordish-Dressman H, Albin R, Amartino H, Brockman K, Dinopoulos A, Dotti MT, Fain D, Fernandez R, Ferreira J, Fleming J, Gill D, Griebel M, Heilstedt H, Kaplan P, Lewis D, Nakagawa M, Pedersen R, Reddy A, Sawaishi Y, Schneider M, Sherr E, Takiyama Y, Wakabayashi K, Gorospe JR, Vanderver A. GFAP mutations, age at onset, and clinical subtypes in Alexander disease. Neurology. 2011 Sep 27;77(13):1287-94. PMID:21917775

Barreau P, Prust MJ, Crane J, Loewenstein J, Kadom N, Vanderver A. Focal central white matter lesions in Alexander disease. J Child Neurol. 2011 Nov;26(11):1422-4. PMID:21572052

Tétreault M, Choquet K, Orcesi S, Tonduti D, Balottin U, Teichmann M, Fribourg S, Schiffmann R, Brais B, Vanderver A, Bernard G. Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. Am J Hum Genet. 2011 Nov 11;89(5):652-5. PMID:22036172 

2010

Hsieh DT, Chang T, Tsuchida TN, Vezina LG, Vanderver A, Siedel J, Brown K, Berl MM, Stephens S, Zeitchick A, Gaillard WD. New-onset afebrile seizures in infants: role of neuroimaging. Neurology. 2010 Jan 12;74(2):150-6. PMID: 20065250

Mochel F, Engelke UF, Barritault J, Yang B, McNeill NH, Thompson JN, Vanderver A, Wolf NI, Willemsen MA, Verheijen FW, Seguin F, Wevers RA, Schiffmann R. Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases. Neurology. 2010 Jan 26;74(4):302-5. PMID: 20101035

Bernard G, Thiffault I, Tetreault M, Putorti ML, Bouchard I, Sylvain M, Melançon S, Laframboise R, Langevin P, Bouchard JP, Vanasse M, Vanderver A, Sébire G, Brais B. Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31. Neurogenetics. 2010 Oct;11(4):457-64. pub 2010 Jul 17. PMID: 20640464

Steenweg ME, Vanderver A, Blaser S, Bizzi A, de Koning TJ, Mancini GM, van Wieringen WN, Barkhof F, Wolf NI, van der Knaap MS. Brain. Magnetic resonance imaging pattern recognition in hypomyelinating disorders. 2010 Oct;133(10):2971-82. PMID: 20881161

2009

Mochel F, Sedel F, Vanderver A, Engelke UF, Barritault J, Yang BZ, Kulkarni B, Adams DR, Clot F, Ding JH, Kaneski CR, Verheijen FW, Smits BW, Seguin F, Brice A, Vanier MT, Huizing M, Schiffmann R, Durr A, Wevers RA. Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA). Brain. 2009 Mar;132(Pt 3):801-9. PMID: 19153153

Singh RK, Leshner RT, Kadom N, Vanderver AL. Isolated cranial nerve enhancement in metachromatic leukodystrophy. Pediatr Neurol. 2009 May;40(5):380-2. PMID: 19380076

Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet. 2009 Jul;41(7):829-32. PMID: 19525956

2008

Kantor L, Pinchasi D, Mintz M, Hathout Y, Vanderver A, Elroy-Stein O. A point mutation in translation initiation factor 2B leads to a continuous hyper stress state in oligodendroglial-derived cells. PLoS One. 2008;3(11). PMID:19023445 

Maletkovic J, Schiffmann R, Gorospe JR, Gordon ES, Mintz M, Hoffman EP, Alper G, Lynch DR, Singhal BS, Harding C, Amartino H, Brown CM, Chan A, Renaud D, Geraghty M, Jensen L, Senbil N, Kadom N, Nazarian J, Yuanjian Feng, Zuyi Wang, Hartka T, Morizono H, Vanderver A. Genetic and clinical heterogeneity in eIF2B-related disorder. J Child Neurol. 2008 Feb;23(2):205-15.PMID:18263758

Mintz M, Vanderver A, Brown KJ, Lin J, Wang Z, Kaneski C, Schiffmann R, Nagaraju K, Hoffman EP, Hathout Y. Time series proteome profiling to study endoplasmic reticulum stress response. J Proteome Res. 2008 Jun;7(6):2435-44. PMID: 18435558

Vanderver A, Hathout Y, Maletkovic J, Gordon ES, Mintz M, Timmons M, Hoffman EP, Horzinski L, Niel F, Fogli A, Boespflug-Tanguy O, Schiffmann R. Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder. Neurology. 2008 Jun 3;70(23):2226-32.PMID: 18519871

Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat. 2008 Sep;29(9):  PMID: 18546365

2007

Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, Vles JS, Voit T, Wassmer E, Weschke B, Whiteford ML, Willemsen MA, Zankl A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJ. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet. 2007 Oct;81(4):713-25.  PMID:17846997

2005

Vanderver A, Schiffmann R, Timmons M, Kellersberger KA, Fabris D, Hoffman EP, Maletkovic J, Hathout Y. Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter disease. Clin Chem. 2005 Nov;51(11):2031-42. Epub 2005 Sep 9. PMID:16155092

1995

Zhong Z, Pirotte-Warnier M, Vanderver A et al. Transport of Tyramine in Short-Term cultures of rat liver parenchymal cells, endothelial cells and Kupffer cells. International Hepatology Communications. 1995; 3: 105-111.

2026

Fragoso D, Goldman Yassen A, Jaimes c, Mirsky D, Yang E, Winden K, Goldstein A, Valencia S, Cardenas A, Martin Hernandez E, Quijada-Fraile P, Reddy N, Pavaine J, Fazio Ferraciollo S, Russo C, Cristofano A, Longo D, Guarner A, Siri B, Martinelli D, Pincerato R, Loos M, Araoz V, Rugilo C, Kandemirli S, Vanderver A, Whitehead M,  Vossough A, Alves C. Uncovering the Link Between Primary Mitochondrial Disorders and Brain Malformations: Neuroimaging Phenotype Variability and Their Organoid Model Insights. ASPNR, Tampa FL, January 2026.

O’Halloran L, Fragoso DC, Whitehead M, Rameh V, Yang E, Ganetzky R, Vanderver A, Goldstein A, Rodan L, Anselm I, Vossough A, Alves C. Unraveling the Overlapping Disorders in Mitochondrial Diseases: A Case Series of Diverse Pediatric Neurological Conditions Sharing Primary Mitochondrial Pathogenesis. American Society of Pediatric Neuroradiology (ASPNR) Annual Meeting, 2026.

Fragoso D, Jaimes C, Mirsky D, Yang E, Goldstein A, Valencia S, Cardenas A,Quijada-Fraile P, Reddy N, Pavaine J, Russo C, Cristofano A, Rossi-Espagnet C, Guarnera A, Siri B, Martinelli D, Loos M, Aráoz V, Rugilo C, Vanderver A, Whitehead MT, Vossough A, Alves C, “Uncovering The Link Between Primary Mitochondrial Disorders and Brain Malformations: Neuroimaging Phenotype Variability and Their Organoid Model Insights,” Oral Presentation at the 8th Annual Meeting of the American Society of Pediatric Neuroradiology, Tampa, FL, January 2026

Calame DG, Wiener E, Gavazzi F, Sevagamoorthy A, Pizzino A, Arnold K, Jammihal T, Bennett M, Adang L, Woidill S, D’Aiello R, Takanohashi A, Lele J, Whitehead MT, Vossough A, Sullivan K, DeMarzo D, Dawood M, Gandhi M, Levine JM, Chinn IK, Fisher K, Emrick L, Jhangiani SN, Posey JE, Lupski JR, Gibbs RA, Rajagopalan R, Vanderver A, PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance, Poster presentation at the American College of Medical Genetics, Baltimore, MD, March 2026

Wiener E, Rius R, Pizzino A, Arnold K, Dominguez Gonzalez C, Whitehead MT, Vossough A, Higdon L, Graveran-Perez K, Toback C, Sperling M, Gurnett CA, Canna S, Behrens E, Simons C, Vanderver A, Bi-allelic IRAK4 Variants are Associated with Severe Neurological Autoinflammation: An Expansion of the Clinical Phenotype, Poster presentation at the American College of Medical Genetics, Baltimore, MD, March 2026

2025

Kilich G, Schindewolf E, Lairson L, Maurer K, Jadhav T, Jammihal T, Hassey K, Vanderver A, Ganetzky R, Skraban C, Breen C, Undiagnosed Diseases Network, Rajagopalan R, Sullivan KE. Immunodeficiency in Mitochondrial DNA Depletion Syndrome 20: A New Phenotypic Insight into LIG3 Mutations. Clinical Immunology Society (CIS) Annual Meeting in Philadelphia, May 1–4, 2025.

Kilich G, Schindewolf E, Maurer K, Jadhav T, Jammihal T, Behrens E, Hassey K, Vanderver A, Ganetzky R, Skraban C, Undiagnosed Diseases Network, Rajagopalan R, Sullivan KE. VPS45 Deficiency with Features of Hemophagocytic Lymphohistiocytosis and Progressive Neurologic Involvement. Clinical Immunology Society (CIS) Annual Meeting in Philadelphia, May 1–4, 2025.

Porcari G,  Takanohashi A, Narula S, Joung J, Liu G,  Faig W, Mix Wannasarnmetha M, Vossough A, Vanderver A, Waldman A, levels are elevated in cerebrospinal fluid in Alexander Disease, American Academy of Neurology Annual Meeting, April 5–9, 2025, in San Diego

Venti ET, Masser-Frye D, Jones MC, del Campo M, Duenas-Roque MM, Cornejo-Olivas M, Palomino AM, Manassero G, Rodriguez RS, Bazalar-Montoya J, Peña Salguero H, Cervantes M, Lumaka A, Mubungu G, Makay P, Ngole M, Tshilobo Lukusa P, Wiafe S, Nyakambangwe T, Kuona P, Kandawasvika G, Napata N, Basel D, McCarrier J, Vanderver A,  Pizzino A, Sherbini O, Shinawi M, Urraca M, Brown CW, Taylor A, Shenbagam S, Abou Tayoun A, Sirchia F, Giorgio E, Arsov T, Royer E, Schmidt L, Perry D, Kesari A, Marshall C, Pan A, Boycott K, Gillespie MK, Chisholm C, Jobanputra V,. Wilson AL, Fielding L, Schlesinger D, Kok F, Terry S, Taft RJ, Impact and evolution of a philanthropic global network providing clinical genomic testing. ACMG 2025

Vaia Y, Gavazzi F, Vanderver A, Tonduti D, Nucleotide Excision Repair (NER) Disorders as differential diagnosis in isolated hypomyelination, Société Européenne de Neurologie Pédiatrique, March 2025

2024

Sevagamoorthy A, Gavazzi F, Sherbini O, Vincent A, D’Aiello R, Barcelos I, Modesti NB, Mutua S, Yu E, Woidill S, Schmidt JL, Pizzino A, Shults J, Vanderver A, Adang A. “Development of a rigorous approach for retrospective natural history studies in leukodystrophies”. World Symposium 2024, San Diego, CA. (Feb 2024) 

Adang L, Malanga C, Burton B, Biugliani R, Gröschel S, Inbar-Feigenberg M, Sevin C, del Toro Riera M, Yin S, Rathmann S, Whiteman D, Vanderver A. “A phase 2 study assessing TAK-611 150 mg intrathecal weekly in patients with late-infantile metachromatic leukodystrophy (NCT03771898; SHP611-201; EMBOLDEN) compared to matched historical control data from children with late-infantile MLD (GLIA-MLD)”. World Symposium 2024, San Diego, CA. (Feb 2024)

Dominguez Gonzalez CA, Sanderson LE, Depace R, Helman G,Wu K, Disanza B, Pizzino A, Schmidt J, Muirhead K, Bonkowsky J, Taft R, Sannaa N, Dias P, Burak Mutlu M, Bertoli-Avell AM, Maroofian R, Barakat TS, Bhoj E, Ahrens-Nicklas R, Simons C, Wolvetang E, Sack MN, van Ham T, Hsiao-Sánchez N, Bonifacino JS, Vanderver A. Autosomal Recessive BLOC1S1 Variants Cause A Hypomyelinating Leukodystrophy With Epileptic Encephalopathy. Society for Inherited Metabolic Disorders (SIMD) 2024 Meeting, Charlotte, NC

Gavazzi F, Vaia Y, Woidill S, Fromanowski B, Peixoto de Barcelos I, Sevagamoorthy A, Modesti N, Cusack S, Vincent A, D’Aiello R, Jawad A, Gall J, Varesio C, Fazzi E, Orcesi S, Glanzman A, Lorch S, De Mauro S, Waldman A, Adang L, Vanderver A. Preservation of Cognitive Skills in Aicardi Goutières Syndrome. Society for Inherited Metabolic Disorders (SIMD) 2024 Meeting, Charlotte, NC

Charsar BA, Gavazzi F, Hamilton E, Patel V, Sirdeshpande D, D’Aiello R, Cross Z, Sherbini O, Simons C, Shults J, Kramer-Golinkoff J, Schmidt J, Takanohashi A, Pizzino A, Muirhead K, Stellingwerff M, Van Beelen I, Toutounchi H, Magrinelli F, Doi H, Miyatake S, Saitsu H, Matsumoto N, Wang J, Rocha de Carvalho D,  Bonkowsky JL, Delgado MR, Clegg NJ, Narayanan V, Sanchez-Castillo M, Naidu S, Fatemi A, Chamova T, Tournev I, Jordanova A, Tonduti D, Masnada S, Bernard G, Adang L, van der Knaap MS, Vanderver A. The phenotypic spectrum of pediatric onset TUBB4A-related leukoencephalopathies: A new classification system among the pediatric population. Society for Inherited Metabolic Disorders (SIMD) 2024 Meeting, Charlotte, NC

Barbieri N, Sergio E, Regan M,  Woidill S, Khan A, Gavazzi F, Horn BD, Baldwin K, Spiegel D, D’Aiello R, Grundmeier R, Kotes E, Vanderver A, Goodbody C, Evans S.  The Importance of Ambulatory Status on Risk of Hip Displacement in Patients with Leukodystrophy. 2024 American Academy for Cerebral Palsy and Developmental Medicine (AACPDM) Annual Meeting, Quebec City, (October 2024).

Mutua S,  Sevagamoorthy A,  Gavazzi F,  Thakur N,  Woidill S, Yu E,  Gröschel S, Fumagalli F,   Bernard G, Stutterd C,  Kehrer C,  Emrick L,  Shults J, Vanderver A,  Adang LAA,  Validation of GMFC-MLD scale as a measure of Gross Motor Function in Metachromatic Leukodystrophy WORLD 20th Annual, February 2024

2025

Vanderver A. “Natural History Studies in Pelizaeus-Merzbacher Disease,” European Leukodystrophy Association, Luxembourg City, Luxembourg, December 5th, 2025

Vanderver A. “Transformation in Rare Disease, Challenges and Opportunities from the Perspective of a Multidisciplinary Rare Disease Program,” Hugo Moser Lecturer at the Kennedy Krieger Institute, Baltimore, MD, April 23rd, 2025

Vanderver A. “Diagnostic Strategies in the Leukodystrophies,” van der Knaap Symposium at the Amsterdam Leukodystrophy Center, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, NL, May 21, 2025

Vanderver A. “Diagnostic Biomarkers in Aicardi Goutières Syndrome,” United Leukodystrophy Foundation, Chicago, IL, June 26, 2025

Vanderver A. “Diagnosis and treatment of Aicardi Goutières Syndrome” IAGSA international Meeting, Pavia, Italy, September 11, 2025

2024

Vanderver A. Aicardi-Goutières Syndrome, invited lecture during a session on ALD newborn screening. SIMD 2024 Charlotte NC (April 2024)

Vanderver, A, Takanohashi A, Adang L, D’Aiello R, Woidill S, Gavazzi F, Behrens E, Sullivan K, Goldbach Mansky R, de Jesus A, Shults J. Interferon signaling gene expression as a diagnostic biomarker. Platform presentation SIMD 2024 Charlotte NC (April 2024)

Vanderver A. “Update on Aicardi-Goutières Syndrome”, invited lecture to the Amsterdam Leukodystrophy Center, Amsterdam, August 2024

Vanderver, A, “What’s new in leukodystrophies” invited lecture as part of a session on “what’s new in neurotherapeutics” ACMG Virtual Fall Seminar, September 10-12, 2024

Vanderver A. “Translational Therapeutics in H-ABC,” invited lecture to the Annual Scientific Meeting of the Alex the Leukodystrophy Charity, Birmingham, UK, October 11, 2024

2024

Inherited White Matter Disorders and Their Mimics, Volume 204, Handbook of Clinical Neurology series, editors David S. Lynch and Henry Houlden, October 2024

2017

Sabetrasekh P, Vanderver A. Alexander disease; Pediatric Demyelinating Diseases of the Central Nervous System and Their Mimics: A case-based clinical guide. Editors: Emmanuelle Waubant and Timothy Lotze, Publisher: Springer, Projected Publication Date: January 2017

Ulrick N, Vanderver A. Hypomyelination with Brainstem and Spine involvement and Leg spasticity; Pediatric Demyelinating Diseases of the Central Nervous System and Their Mimics: A case-based clinical guide. Editors: Emmanuelle Waubant and Timothy Lotze, Publisher: Springer, Projected Publication Date: January 2017

2016

G Helman, BS, S Venkateswaran, MD, A Vanderver, MD. The Spectrum of Adult-Onset Heritable White Matter Disorders. Handbook of Clinical Neurology. (Submitted for 2016 Publication).

Vanderver A, Wolf N “Metabolic and Genetic Disorders of the White Matter” Swaiman’s: Pediatric Neurology, Principles of Practice, Fall 2011, updated Spring 2015 for publication 2016

2015

G Helman, BS, K Van Haren, MD, ML Escolar, MD, A Vanderver, MD. Emerging Therapeutics in Pediatric Leukodystrophies. Pediatric Clinics of North America: New Advances in Pediatric Neurologic and Developmental Disorders in the Era of Genomics. (Submitted for 2015 Publication).

2013

Tonduti, D, Vanderver A, Leukodystrophies and Epilepsy.  In: Inherited Metabolic Epilepsies, Ed. PL Pearl, Demos Pubs, New York, NY, 2013

2006

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

Vanderver A.  “Alexander disease” Pediatric Neurology for the Oral Boards: A Case-based Review. Ed Tena Rosser, Lippincott Williams & Wilkins, September 2006.  

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

2005

Vanderver A, Gaillard WD. Lennox-Gastaut Syndrome. In Treatment of Pediatric Neurologic Disorders. Ed. H Singer. Taylor and Francis, 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. Humana Press, April 2005

2003

Vanderver A, Pearl P, “Giant Axonal Neuropathy,” in NORD Guide to Rare Disorders. Lippincott Williams & Wilkins: Philadelphia, 2003, p569.

Vanderver A, Pearl P, “Beckwith-Wiedemann syndrome,” in NORD Guide to Rare Disorders.  Lippincott Williams & Wilkins: Philadelphia, 2003, p518.

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