Michael T. Zimmermann, PhD

Publications

• SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.

  (Delmonte OM, Bergerson JRE, Kawai T, Kuehn HS, McDermott DH, Cortese I, Zimmermann MT, Dobbs K, Bosticardo M, Fink D, Majumdar S, Palterer B, Pala F, Dsouza NR, Pouzolles M, Taylor N, Calvo KR, Daley SR, Velez DS, Agharahimi A, Myint-Hpu K, Dropulic L, Lyons JJ, Holland SM, Freeman AF, Ghosh R, Similuk MN, Niemela JE, Stoddard JL, Kuhns DB, Urrutia R, Rosenzweig S, Walkiewicz MA, Murphy P, Notarangelo LD.) Blood. 2021 Apr 19 PMID: 33876203 04/21/2021

• RNA Sequencing and Pathways Analyses of Middle Ear Epithelia From Patients With Otitis Media.

  (Stabenau KA, Zimmermann MT, Mathison A, Zeighami A, Samuels TL, Chun RH, Papsin BC, McCormick ME, Johnston N, Kerschner JE.) Laryngoscope. 2021 Apr 12 PMID: 33844317 SCOPUS ID: 2-s2.0-85104152095 04/13/2021

• Germline evaluation of patients undergoing tumor genomic profiling: An academic cancer center's experience with implementing a germline review protocol.

  (Stachowiak S, Jacquart A, Zimmermann MT, George B, Dong H, Geurts JL.) J Genet Couns. 2021 Mar 22 PMID: 33754402 03/24/2021

• 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. 2021 Mar;23(3):498-507 PMID: 33144682 SCOPUS ID: 2-s2.0-85094871921 11/05/2020

• Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.

  (Chi YI, Stodola TJ, De Assuncao TM, Levrence EN, Tripathi S, Dsouza NR, Mathison AJ, Basel DG, Volkman BF, Smith BC, Lomberk G, Zimmermann MT, Urrutia R.) Orphanet J Rare Dis. 2021 02 05;16(1):66 PMID: 33546721 PMCID: PMC7866879 SCOPUS ID: 2-s2.0-85100579633 02/07/2021

• 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, Del Rey Jimenez JC, 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. 2021 Feb;23(2):384-395 PMID: 33173220 PMCID: PMC7862064 SCOPUS ID: 2-s2.0-85095780736 11/12/2020

• Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.

  (Zimmermann MT, Mathison AJ, Stodola T, Evans DB, Abrudan JL, Demos W, Tschannen M, Aldakkak M, Geurts J, Lomberk G, Tsai S, Urrutia R.) Front Oncol. 2021;11:606820 PMID: 33747920 PMCID: PMC7973372 SCOPUS ID: 2-s2.0-85102941394 03/23/2021

• 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

• 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