Vanderver Laboratory Publications

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Below is a list of selected publications from the Vanderver Lab.

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, Ulrick N, Sherbini O, Koh J, Peer K, Besnier C, Scher C, Boyle K, Dubbs H, Kramer-Golinkoff J, Pizzino A, Woidill S, Shults J. Janus Kinase Inhibition in the Aicardi-Goutières Syndrome. N Engl J Med. 2020 Sep; 383(10):986-989. PubMed PMID: 32877590
Schmidt JL, Pizzino A, Nicholl J, Foley A, Wang Y, Rosenfeld JA, Mighion L, Bean L, da Silva C, Cho MT, 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. J Med Genet A. 2020 Aug; 182(8):1906-1912. Epub 2020 Jun 23. PMID: 32573057
Adang LA, Pizzino A, Malhotra A, Dubbs H, Williams C, Sherbini O, Anttonen AK, Lesca G, Linnankivi T, Laurencin C, Milh M, Perrine 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 Aug; 109:56-62. Epub 2020 Mar 11. PMID: 32387008; PMCID: PMC7387198
Vanderver A, Bernard G, Helman G, Sherbini O, Boeck R, Cohn J, Collins A, Demarest S, Dobbins K, Emrick L, Fraser JL, 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 MS, Pizzino A, Dubbs H, Shults J, Simons C, Taft RJ; LeukoSEQ Workgroup. Randomized clinical trial of first-line genome sequencing in pediatric white matter disorders. Ann Neurol. 2020 Aug; 88(2):264-273. Epub 2020 Jun 9. PMID: 32342562
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; PMCID: PMC7366613
Sase S, Almad AA, Boecker CA, Guedes-Dias P, Li JJ, Takanohashi A, Patel A, McCaffrey T, Patel H, Sirdeshpande D, Curiel J, Shih-Hwa Liu J, Padiath Q, Holzbaur EL, Scherer SS, Vanderver A. TUBB4A mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model. Elife. 2020 May; 9:e52986. PMID: 32463361; PMCID: PMC7255805
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(1):144-152. Epub 2020 Jan 7. PMID: 31912665
Adang L, Gavazzi F, De Simone M, Fazzi E, Galli J, Koh J, Kramer-Golinkoff J, De Giorgis V, Orcesi S, Peer K, Ulrick N, Woidill S, Shults J, Vanderver A. Developmental outcomes of Aicardi Goutières Syndrome. J Child Neurol. 2020 Jan; 35(1):7-16. Epub 2019 Sep 27. PMID: 31559893; PMCID: PMC7402202
Adang LA, Frank DB, Gilani A, Takanohashi A, Ulrick N, Collins A, Cross Z, Galambos C, Helman G, Kanaan U, Keller S, Simon D, Sherbini O, Hanna BD, Vanderver AL. Aicardi goutières syndrome is associated with pulmonary hypertension. Mol Genet Metab. 2018 Dec; 125(4):351-358. Epub 2018 Sep 7. PMID: 30219631; PMCID: PMC6880931
Helman G, Venkateswaran S, Vanderver A. The spectrum of adult-onset heritable white-matter disorders. Handb Clin Neurol. 2018 Jan; 148:669-692. PMID: 29478607
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 result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes. Hum Mol Genet. 2017 Nov; 26(22):4506-4518. PMID: 28973395; PMCID: PMC7462055
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 DL, 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; Global Leukodystrophy Initiative (GLIA) Consortium. Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies. Mol Genet Metab. 2017 Sep; 122(1-2):18-32. Epub 2017 Aug 20. PMID: 28863857