Michael T. Zimmermann, PhD

Publications

• Novel BRAF alteration in desmoplastic infantile ganglioglioma with response to targeted therapy.

  (Blessing MM, Blackburn PR, Balcom JR, Krishnan C, Harrod VL, Zimmermann MT, Barr Fritcher EG, Zysk CD, Jackson RA, Nair AA, Jenkins RB, Halling KC, Kipp BR, Ida CM.) Acta Neuropathol Commun. 2018 Nov 05;6(1):118.

• Apolipoprotein CII Amyloidosis Associated With p.Lys41Thr Mutation.

  (Sethi S, Dasari S, Plaisier E, Ronco P, Nasr SH, Brocheriou I, Theis JD, Vrana JA, Zimmermann MT, Quint PS, McPhail ED, Kurtin PJ.) Kidney Int Rep. 2018 Sep;3(5):1193-1201.

• Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II.

  (Richter JE Jr, Zimmermann MT, Blackburn PR, Mohammad AN, Klee EW, Pollard LM, Macmurdo CF, Atwal PS, Caulfield TR.) Mol Genet Genomic Med. 2018 Nov;6(6):1229-1235.

• A Patient With Hereditary ATTR and a Novel AGel p.Ala578Pro Amyloidosis.

  (Sridharan M, Highsmith WE, Kurtin PJ, Zimmermann MT, Theis JD, Dasari S, Dingli D.) Mayo Clin Proc. 2018 Nov;93(11):1678-1682.

• Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties.

  (Zimmermann MT, Urrutia R, Cousin MA, Oliver GR, Klee EW.) Front Genet. 2018;9:276.

• Correction to: the impact of pharmacokinetic gene profiles across human cancers.

  (Zimmermann MT, Therneau TM, Kocher JA.) BMC Cancer. 2018 07 18;18(1):743.

• Even pore-localizing missense variants at highly conserved sites in -encoded K7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation.

  (Paquin A, Ye D, Tester DJ, Kapplinger JD, Zimmermann MT, Ackerman MJ.) HeartRhythm Case Rep. 2018 Feb;4(2):37-44.

• The impact of pharmacokinetic gene profiles across human cancers.

  (Zimmermann MT, Therneau TM, Kocher JA.) BMC Cancer. 2018 May 21;18(1):577.

• Genomic and Molecular Landscape of DNA Damage Repair Deficiency across The Cancer Genome Atlas.

  (Knijnenburg TA, Wang L, Zimmermann MT, Chambwe N, Gao GF, Cherniack AD, Fan H, Shen H, Way GP, Greene CS, Liu Y, Akbani R, Feng B, Donehower LA, Miller C, Shen Y, Karimi M, Chen H, Kim P, Jia P, Shinbrot E, Zhang S, Liu J, Hu H, Bailey MH, Yau C, Wolf D, Zhao Z, Weinstein JN, Li L, Ding L, Mills GB, Laird PW, Wheeler DA, Shmulevich I, Cancer Genome Atlas Research Network, Monnat RJ Jr, Xiao Y, Wang C.) Cell Rep. 2018 Apr 03;23(1):239-254.e6.

• Transcriptomic signatures of cellular and humoral immune responses in older adults after seasonal influenza vaccination identified by data-driven clustering.

  (Voigt EA, Grill DE, Zimmermann MT, Simon WL, Ovsyannikova IG, Kennedy RB, Poland GA.) Sci Rep. 2018 01 15;8(1):739.

• Novel variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.

  (Kaiwar C, Zimmermann MT, Ferber MJ, Niu Z, Urrutia RA, Klee EW, Babovic-Vuksanovic D.) Cold Spring Harb Mol Case Stud. 2017 Nov;3(6).

• Functional validation reveals the novel missense V419L variant in associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling.

  (Cousin MA, Zimmermann MT, Mathison AJ, Blackburn PR, Boczek NJ, Oliver GR, Lomberk GA, Urrutia RA, Deyle DR, Klee EW.) Cold Spring Harb Mol Case Stud. 2017 07;3(4).