Michael T. Zimmermann, PhD

Publications

• Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.

  (García-Cazorla À, Verdura E, Juliá-Palacios N, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schlüter A, Urreizti R, Tarnowski JM, Gavrilova RH, SHMT2 Working Group, Ruiz M, Rodríguez-Palmero A, Fourcade S, Cogné B, Besnard T, Vincent M, Bézieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch R, Cousin MA, Pujol A.) Acta Neuropathol. 2020 12;140(6):971-975 PMID: 33015733 PMCID: PMC7665968 SCOPUS ID: 2-s2.0-85092164256 10/06/2020

• Structural Bioinformatics Enhances Mechanistic Interpretation of Genomic Variation, Demonstrated Through the Analyses of 935 Distinct RAS Family Mutations.

  (Tripathi S, Dsouza NR, Urrutia R, Zimmermann MT.) Bioinformatics. 2020 Nov 23 PMID: 33226070 11/24/2020

• Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes.

  (Ferrer A, Mangaonkar AA, Stroik S, Zimmermann MT, Sigafoos AN, Kamath PS, Simonetto DA, Wylam ME, Carmona EM, Lazaridis KN, Peters S, Stewart K, Klee EW, Hendrickson EA, Patnaik MM.) Blood Cancer J. 2020 11 17;10(11):120 PMID: 33203829 PMCID: PMC7673118 SCOPUS ID: 2-s2.0-85096124110 11/19/2020

• Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.

  (Brunet T, McWalter K, Mayerhanser K, Anbouba GM, Armstrong-Javors A, Bader I, Baugh E, Begtrup A, Bupp CP, Callewaert BL, Cereda A, Cousin MA, Jimenez JCDR, Demmer L, Dsouza NR, Fleischer N, Gavrilova RH, Ghate S, Graf E, Green A, Green SR, Iascone M, Kdissa A, Klee D, Klee EW, Lancaster E, Lindstrom K, Mayr JA, McEntagart M, Meeks NJL, Mittag D, Moore H, Olsen AK, Ortiz D, Parsons G, Pena LDM, Person RE, Punj S, Ramos-Rivera GA, Sacoto MJG, Bradley Schaefer G, Schnur RE, Scott TM, Scott DA, Serbinski CR, Shashi V, Siu VM, Stadheim BF, Sullivan JA, Švantnerová J, Velsher L, Wargowski DS, Wentzensen IM, Wieczorek D, Winkelmann J, Yap P, Zech M, Zimmermann MT, Meitinger T, Distelmaier F, Wagner M.) Genet Med. 2020 Nov 11 PMID: 33173220 11/12/2020

• Impact of integrated translational research on clinical exome sequencing.

  (Klee EW, Cousin MA, Pinto E Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN.) Genet Med. 2020 Nov 04 PMID: 33144682 11/05/2020

• Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa.

  (Pinto E Vairo F, Kroc SA, Bertsch NL, Sigafoos AN, Lee HB, Dsouza NR, Clark KJ, Pichurin PN, Zimmermann MT, Klee EW.) Thromb Res. 2020 11;195:187-189 PMID: 32721632 SCOPUS ID: 2-s2.0-85088387849 07/30/2020

• Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome.

  (Čierny M, Hooshmand SI, Fee D, Tripathi S, Dsouza NR, La Pean Kirschner A, Zimmermann MT, Brennan R.) Parkinsonism Relat Disord. 2020 08;77:110-113 PMID: 32712562 SCOPUS ID: 2-s2.0-85088215494 07/28/2020

• Homozygous missense variant in UBE2T is associated with mild Fanconi anemia phenotype.

  (Schultz-Rogers L, Lach FP, Rickman KA, Ferrer A, Mangaonkar AA, Schwab TL, Schmitz CT, Clark KJ, Dsouza NR, Zimmermann MT, Litzow M, Jacobi N, Klee EW, Smogorzewska A, Patnaik MM.) Haematologica. 2020 Jul 09 PMID: 32646888 07/11/2020

• Polymorphisms in STING Affect Human Innate Immune Responses to Poxviruses.

  (Kennedy RB, Haralambieva IH, Ovsyannikova IG, Voigt EA, Larrabee BR, Schaid DJ, Zimmermann MT, Oberg AL, Poland GA.) Front Immunol. 2020;11:567348 PMID: 33154747 PMCID: PMC7591719 SCOPUS ID: 2-s2.0-85094566648 11/07/2020

• Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa

  (Pinto e Vairo F, Kroc SA, Bertsch NL, Sigafoos AN, Lee HB, Dsouza NR, Clark KJ, Pichurin PN, Zimmermann MT, Klee EW.) Thrombosis Research. November 2020;195:187-189 SCOPUS ID: 2-s2.0-85088387849 11/01/2020

• Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes

  (Ferrer A, Mangaonkar AA, Stroik S, Zimmermann MT, Sigafoos AN, Kamath PS, Simonetto DA, Wylam ME, Carmona EM, Lazaridis KN, Peters S, Stewart K, Klee EW, Hendrickson EA, Patnaik MM.) Blood Cancer Journal. November 2020;10(11) SCOPUS ID: 2-s2.0-85096124110 11/01/2020

• Polymorphisms in STING Affect Human Innate Immune Responses to Poxviruses

  (Kennedy RB, Haralambieva IH, Ovsyannikova IG, Voigt EA, Larrabee BR, Schaid DJ, Zimmermann MT, Oberg AL, Poland GA.) Frontiers in Immunology. 14 October 2020;11 SCOPUS ID: 2-s2.0-85094566648 10/14/2020