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Michael T. Zimmermann PhD

Director, Assistant Professor

Institution: Medical College of Wisconsin
Department: Clinical and Translational Science Institute
Program: Governance

Member of the Cancer Center
Member of the Center for Immunology
Member of the Data Science Institute
Member of the Mellowes Center for Genomic Sciences and Precision Medicine

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Publications (144)

A multi-layered computational structural genomics approach enhances domain-specific interpretation of Kleefstra syndrome variants in EHMT1. (Chi YI, Jorge SD, Jensen DR, Smith BC, Volkman BF, Mathison AJ, Lomberk G, Zimmermann MT, Urrutia R) Comput Struct Biotechnol J 2023;21:5249-5258 PMID: 37954151 PMCID: PMC10632586 SCOPUS ID: 2-s2.0-85174744984 11/13/2023

RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation. (Haque N, Kawai T, Ratnasinghe BD, Wagenknecht JB, Urrutia R, Notarangelo LD, Zimmermann MT) iScience 2023 Oct 20;26(10):108040 PMID: 37854700 PMCID: PMC10579426 SCOPUS ID: 2-s2.0-85174692439 10/19/2023

Beyond structural bioinformatics for genomics with dynamics characterization of an expanded KRAS mutational landscape. (Ratnasinghe BD, Haque N, Wagenknecht JB, Jensen DR, Valdivia Esparza GK, Leverence EN, Milech De Assuncao T, Mathison AJ, Lomberk G, Smith BC, Volkman BF, Urrutia R, Zimmermann MT) Comput Struct Biotechnol J 2023;21:4790-4803 PMID: 37841325 PMCID: PMC10570560 SCOPUS ID: 2-s2.0-85173171942 10/16/2023

Writers and readers of H3K9me2 form distinct protein networks during the cell cycle that include candidates for H3K9 mimicry. (Pollin G, De Assuncao TM, Doria Jorge S, Chi YI, Charlesworth MC, Madden B, Iovanna J, Zimmermann MT, Urrutia R, Lomberk G) Biosci Rep 2023 Oct 31;43(10) PMID: 37782747 PMCID: PMC10611923 SCOPUS ID: 2-s2.0-85175273435 10/02/2023

IL6Myc mouse is an immunocompetent model for the development of aggressive multiple myeloma. (Pisano MD, Sun F, Cheng Y, Parashar D, Zhou V, Jing X, Sompallae R, Abrudan J, Zimmermann MT, Mathison A, Janz S, Pufall MA) Haematologica 2023 Dec 01;108(12):3372-3383 PMID: 37439384 PMCID: PMC10690922 SCOPUS ID: 2-s2.0-85178652041 07/13/2023

Advanced computational analysis of CD40LG variants in atypical X-linked hyper-IgM syndrome. (Pazhanisamy A, Jorge SD, Zimmermann MT, Kitcharoensakkul M, Abdalgani M, Khojah A, Victor C, Rueda C, Urrutia R, Abraham RS) Clin Immunol 2023 Aug;253:109692 PMID: 37433422 SCOPUS ID: 2-s2.0-85164736502 07/12/2023

Priming therapy by targeting enhancer-initiated pathways in patient-derived pancreatic cancer cells (Fraunhoffer NA, Moreno Vega AI, Abuelafia AM, Morvan M, Lebarbier E, Mary-Huard T, Zimmermann M, Lomberk G, Urrutia R, Dusetti N, Blum Y, Nicolle R, Iovanna J) eBioMedicine June 2023;92 SCOPUS ID: 2-s2.0-85154565512 06/01/2023 2 Citations

Beyond Structural Bioinformatics for Genomics with Dynamics Characterization of an Expanded KRAS Mutational Landscape. (Ratnasinghe BD, Haque N, Wagenknecht JB, Jensen DR, Esparza GV, Leverence EN, De Assuncao TM, Mathison AJ, Lomberk G, Smith BC, Volkman BF, Urrutia R, Zimmermann MT) bioRxiv 2023 Apr 28 PMID: 37207265 PMCID: PMC10189839 05/19/2023

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy. (Morales-Rosado JA, Schwab TL, Macklin-Mantia SK, Foley AR, Pinto E Vairo F, Pehlivan D, Donkervoort S, Rosenfeld JA, Boyum GE, Hu Y, Cong ATQ, Lotze TE, Mohila CA, Saade D, Bharucha-Goebel D, Chao KR, Grunseich C, Bruels CC, Littel HR, Estrella EA, Pais L, Kang PB, Zimmermann MT, Lupski JR, Lee B, Schellenberg MJ, Clark KJ, Wierenga KJ, Bönnemann CG, Klee EW) Am J Hum Genet 2023 Jun 01;110(6):989-997 PMID: 37167966 PMCID: PMC10257193 SCOPUS ID: 2-s2.0-85160290739 05/12/2023 2 Citations

Priming therapy by targeting enhancer-initiated pathways in patient-derived pancreatic cancer cells. (Fraunhoffer NA, Moreno Vega AI, Abuelafia AM, Morvan M, Lebarbier E, Mary-Huard T, Zimmermann MT, Lomberk G, Urrutia R, Dusetti N, Blum Y, Nicolle R, Iovanna J) EBioMedicine 2023 Jun;92:104602 PMID: 37148583 PMCID: PMC10189188 SCOPUS ID: 2-s2.0-85154565512 05/06/2023 2 Citations

Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). (Reddi HV, Wand H, Funke B, Zimmermann MT, Lebo MS, Qian E, Shirts BH, Zou YS, Zhang BM, Rose NC, Abu-El-Haija A, ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net) Genet Med 2023 May;25(5):100804 PMID: 36971772 SCOPUS ID: 2-s2.0-85152941721 03/28/2023 6 Citations

Erratum: Impact of integrated translational research on clinical exome sequencing (Genetics in Medicine (2021) 23(3) (498–507), (S1098360021049455), (10.1038/s41436-020-01005-9)) (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) Genetics in Medicine February 2023;25(2) SCOPUS ID: 2-s2.0-85146870414 02/01/2023

The splanchnic mesenchyme is the tissue of origin for pancreatic fibroblasts during homeostasis and tumorigenesis. (Han L, Wu Y, Fang K, Sweeney S, Roesner UK, Parrish M, Patel K, Walter T, Piermattei J, Trimboli A, Lefler J, Timmers CD, Yu XZ, Jin VX, Zimmermann MT, Mathison AJ, Urrutia R, Ostrowski MC, Leone G) Nat Commun 2023 Jan 03;14(1):1 PMID: 36596776 PMCID: PMC9810714 SCOPUS ID: 2-s2.0-85145429848 01/04/2023 13 Citations

A multi-layered computational structural genomics approach enhances domain-specific interpretation of Kleefstra syndrome variants in EHMT1 (Chi YI, Jorge SD, Jensen DR, Smith BC, Volkman BF, Mathison AJ, Lomberk G, Zimmermann MT, Urrutia R) Computational and Structural Biotechnology Journal January 2023;21:5249-5258 SCOPUS ID: 2-s2.0-85174744984 01/01/2023

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome. (Cousin MA, Veale EL, Dsouza NR, Tripathi S, Holden RG, Arelin M, Beek G, Bekheirnia MR, Beygo J, Bhambhani V, Bialer M, Bigoni S, Boelman C, Carmichael J, Courtin T, Cogne B, Dabaj I, Doummar D, Fazilleau L, Ferlini A, Gavrilova RH, Graham JM Jr, Haack TB, Juusola J, Kant SG, Kayani S, Keren B, Ketteler P, Klöckner C, Koopmann TT, Kruisselbrink TM, Kuechler A, Lambert L, Latypova X, Lebel RR, Leduc MS, Leonardi E, Lewis AM, Liew W, Machol K, Mardini S, McWalter K, Mignot C, McLaughlin J, Murgia A, Narayanan V, Nava C, Neuser S, Nizon M, Ognibene D, Park J, Platzer K, Poirsier C, Radtke M, Ramsey K, Runke CK, Guillen Sacoto MJ, Scaglia F, Shinawi M, Spranger S, Tan ES, Taylor J, Trentesaux AS, Vairo F, Willaert R, Zadeh N, Urrutia R, Babovic-Vuksanovic D, Zimmermann MT, Mathie A, Klee EW) Genome Med 2022 Jun 13;14(1):62 PMID: 35698242 PMCID: PMC9195326 SCOPUS ID: 2-s2.0-85131795908 06/14/2022 3 Citations

Structural bioinformatics enhances the interpretation of somatic mutations in KDM6A found in human cancers. (Chi YI, Stodola TJ, De Assuncao TM, Leverence EN, Smith BC, Volkman BF, Mathison AJ, Lomberk G, Zimmermann MT, Urrutia R) Comput Struct Biotechnol J 2022;20:2200-2211 PMID: 35615018 PMCID: PMC9111933 SCOPUS ID: 2-s2.0-85130080827 05/27/2022 4 Citations

Molecular Modeling is an Enabling Approach to Complement and Enhance Channelopathy Research. (Zimmermann MT) Compr Physiol 2022 Mar 29;12(2):3141-3166 PMID: 35578963 SCOPUS ID: 2-s2.0-85130059929 05/18/2022

To ChIP, or to CUT, that is the question: Comparative Evaluation of NextGen Methodologies for Studying the genome-wide distribution of Histone H3 Lysine 9 di-methyl mark in pancreatic cells. (Urrutia G, Abrudan JL, Du M, de Assuncao TM, Mathison AJ, Zimmermann MT, Lomberk G, Urrutia R) FASEB J 2022 May;36 Suppl 1 PMID: 35556470 SCOPUS ID: 2-s2.0-85130072518 05/14/2022

Transcriptional Landscape Established by the Euchromatic Histone-lysine N-methyltransferase Pathway During Pancreas Ontogenesis and Pancreatitis. (Urrutia R, Salmonson A, Urrutia G, de Assuncao TM, Zimmermann MT, Mathison AJ, Lomberk G) FASEB J 2022 May;36 Suppl 1 PMID: 35556469 SCOPUS ID: 2-s2.0-85130010001 05/14/2022

Defining the Mutational Landscape That Affects the Histone Demethylase KDM6A/UTX in Human Cancer. (Chi YI, Stodola TJ, de Assuncao TM, Volkman B, Smith B, Mathison AJ, Lomberk G, Zimmermann MT, Urrutia R) FASEB J 2022 May;36 Suppl 1 PMID: 35555661 SCOPUS ID: 2-s2.0-85130046941 05/14/2022

Epigenomic mechanisms used by KrasG12D to regulate inflammatory gene clusters in epithelial pancreatic cancer cells, which are critical for reprogramming the tumor microenvironment. (Du M, Abrudan JL, Urrutia G, de Assuncao TM, Mathison AJ, Zimmermann MT, Lomberk G, Urrutia R) FASEB J 2022 May;36 Suppl 1 PMID: 35552230 SCOPUS ID: 2-s2.0-85130057842 05/14/2022

NADPH oxidase 4 contributes to TRPV4-mediated endothelium-dependent vasodilation in human arterioles by regulating protein phosphorylation of TRPV4 channels. (Xie Y, Nishijima Y, Zinkevich NS, Korishettar A, Fang J, Mathison AJ, Zimmermann MT, Wilcox DA, Gutterman DD, Shen Y, Zhang DX) Basic Res Cardiol 2022 Apr 25;117(1):24 PMID: 35469044 PMCID: PMC9119129 SCOPUS ID: 2-s2.0-85128849246 04/27/2022 5 Citations

Microglia Influence Neurofilament Deposition in ALS iPSC-Derived Motor Neurons. (Allison RL, Adelman JW, Abrudan J, Urrutia RA, Zimmermann MT, Mathison AJ, Ebert AD) Genes (Basel) 2022 Jan 27;13(2) PMID: 35205286 PMCID: PMC8871895 SCOPUS ID: 2-s2.0-85124092767 02/26/2022 6 Citations

Microglia Influence Neurofilament Deposition in ALS iPSC-Derived Motor Neurons (Allison RL, Adelman JW, Abrudan J, Urrutia RA, Zimmermann MT, Mathison AJ, Ebert AD) Genes February 2022;13(2) SCOPUS ID: 2-s2.0-85124092767 02/01/2022 6 Citations

Enhanced interpretation of 935 hotspot and non-hotspot RAS variants using evidence-based structural bioinformatics. (Tripathi S, Dsouza NR, Mathison AJ, Leverence E, Urrutia R, Zimmermann MT) Comput Struct Biotechnol J 2022;20:117-127 PMID: 34976316 PMCID: PMC8688876 SCOPUS ID: 2-s2.0-85121238740 01/04/2022 3 Citations

Enhanced interpretation of 935 hotspot and non-hotspot RAS variants using evidence-based structural bioinformatics (Tripathi S, Dsouza NR, Mathison AJ, Leverence E, Urrutia R, Zimmermann MT) Computational and Structural Biotechnology Journal January 2022;20:117-127 SCOPUS ID: 2-s2.0-85121238740 01/01/2022 3 Citations

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability. (Schalk A, Cousin MA, Dsouza NR, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, Lasseaux E, Lacombe D, Angelini C, Michaud V, Van-Gils J, Spataro N, Ruiz A, Gabau E, Stolerman E, Washington C, Louie R, Lanpher BC, Kemppainen JL, Innes M, Kooy F, Meuwissen M, Goldenberg A, Lecoquierre F, Vera G, Diderich KEM, Sheidley B, El Achkar CM, Park M, Hamdan FF, Michaud JL, Lewis AJ, Zweier C, Reis A, Wagner M, Weigand H, Journel H, Keren B, Passemard S, Mignot C, van Gassen K, Brilstra EH, Itzikowitz G, O'Heir E, Allen J, Donald KA, Korf BR, Skelton T, Thompson M, Robin NH, Rudy NL, Dobyns WB, Foss K, Zarate YA, Bosanko KA, Alembik Y, Durand B, Tran Mau-Them F, Ranza E, Blanc X, Antonarakis SE, McWalter K, Torti E, Millan F, Dameron A, Tokita M, Zimmermann MT, Klee EW, Piton A, Gerard B) J Med Genet 2022 Oct;59(10):965-975 PMID: 34930816 PMCID: PMC9241146 SCOPUS ID: 2-s2.0-85134474339 12/22/2021 9 Citations

Kras^G12D induces changes in chromatin territories that differentially impact early nuclear reprogramming in pancreatic cells. (Mathison AJ, Kerketta R, de Assuncao TM, Leverence E, Zeighami A, Urrutia G, Stodola TJ, di Magliano MP, Iovanna JL, Zimmermann MT, Lomberk G, Urrutia R) Genome Biol 2021 Oct 14;22(1):289 PMID: 34649604 PMCID: PMC8518179 SCOPUS ID: 2-s2.0-85117299300 10/16/2021 5 Citations

Computational modeling reveals key molecular properties and dynamic behavior of disruptor of telomeric silencing 1-like (DOT1L) and partnering complexes involved in leukemogenesis. (Stodola TJ, Chi YI, De Assuncao TM, Leverence EN, Tripathi S, Dsouza NR, Mathison AJ, Volkman BF, Smith BC, Lomberk G, Zimmermann MT, Urrutia R) Proteins 2022 Jan;90(1):282-298 PMID: 34414607 PMCID: PMC8671179 SCOPUS ID: 2-s2.0-85114677469 08/21/2021 2 Citations

P²T²: Protein Panoramic annoTation Tool for the interpretation of protein coding genetic variants. (DeVoe E, Oliver GR, Zenka R, Blackburn PR, Cousin MA, Boczek NJ, Kocher JA, Urrutia R, Klee EW, Zimmermann MT) JAMIA Open 2021 Jul;4(3):ooab065 PMID: 34377961 PMCID: PMC8346652 SCOPUS ID: 2-s2.0-85118188543 08/12/2021 1 Citation

Inactivation of the Euchromatic Histone-Lysine N-Methyltransferase 2 Pathway in Pancreatic Epithelial Cells Antagonizes Cancer Initiation and Pancreatitis-Associated Promotion by Altering Growth and Immune Gene Expression Networks. (Urrutia G, de Assuncao TM, Mathison AJ, Salmonson A, Kerketta R, Zeighami A, Stodola TJ, Adsay V, Pehlivanoglu B, Dwinell MB, Zimmermann MT, Iovanna JL, Urrutia R, Lomberk G) Front Cell Dev Biol 2021;9:681153 PMID: 34249932 PMCID: PMC8261250 SCOPUS ID: 2-s2.0-85116952280 07/13/2021 4 Citations

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. (Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J, Undiagnosed Diseases Network, Genomics England Research Consortium, Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN) Nat Genet 2021 Jul;53(7):1006-1021 PMID: 34211179 PMCID: PMC8273149 SCOPUS ID: 2-s2.0-85111456769 07/03/2021 33 Citations

Correction to: 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, Leverence EN, Tripathi S, Dsouza NR, Mathison AJ, Basel DG, Volkman BF, Smith BC, Lomberk G, Zimmermann MT, Urrutia R) Orphanet J Rare Dis 2021 Jun 01;16(1):247 PMID: 34074320 PMCID: PMC8170813 SCOPUS ID: 2-s2.0-85107273180 06/03/2021

Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth. (Cottrell CE, Bender NR, Zimmermann MT, Heusel JW, Corliss M, Evenson MJ, Magrini V, Corsmeier DJ, Avenarius M, Dudley JN, Johnston JJ, Lindhurst MJ, Vigh-Conrad K, Davies OMT, Coughlin CC, Frieden IJ, Tollefson M, Zaenglein AL, Ciliberto H, Tosi LL, Semple RK, Biesecker LG, Drolet BA) Genet Med 2021 Oct;23(10):1882-1888 PMID: 34040190 PMCID: PMC8486672 SCOPUS ID: 2-s2.0-85106493295 05/28/2021 20 Citations

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 AK, Bosticardo M, Fink D, Majumdar S, Palterer B, Pala F, Dsouza NR, Pouzolles M, Taylor N, Calvo KR, Daley SR, Velez D, Agharahimi A, Myint-Hpu K, Dropulic LK, Lyons JJ, Holland SM, Freeman AF, Ghosh R, Similuk MB, Niemela JE, Stoddard J, Kuhns DB, Urrutia R, Rosenzweig SD, Walkiewicz MA, Murphy PM, Notarangelo LD) Blood 2021 Sep 23;138(12):1019-1033 PMID: 33876203 PMCID: PMC8462359 SCOPUS ID: 2-s2.0-85114709336 04/21/2021 29 Citations

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 Nov;131(11):2590-2597 PMID: 33844317 SCOPUS ID: 2-s2.0-85104152095 04/13/2021 7 Citations

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 Jun;30(3):900-910 PMID: 33754402 SCOPUS ID: 2-s2.0-85102814588 03/24/2021

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 4 Citations

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, Leverence EN, Tripathi S, Dsouza NR, Mathison AJ, Basel DG, Volkman BF, Smith BC, Lomberk G, Zimmermann MT, Urrutia R) Orphanet J Rare Dis 2021 Feb 05;16(1):66 PMID: 33546721 PMCID: PMC7866879 SCOPUS ID: 2-s2.0-85100579633 02/07/2021 11 Citations

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) Genetics in Medicine February 2021;23(2):384-395 SCOPUS ID: 2-s2.0-85095780736 02/01/2021 4 Citations

POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development (Nichols-Vinueza DX, Delmonte OM, Bundy V, Bosticardo M, Zimmermann MT, Dsouza NR, Pala F, Dobbs K, Stoddard J, Niemela JE, Kuehn HS, Keller MD, Rueda CM, Abraham RS, Urrutia R, Rosenzweig SD, Notarangelo LD) Journal of Clinical Immunology January 2021;41(1):270-273 SCOPUS ID: 2-s2.0-85094912585 01/01/2021 11 Citations

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 2021 Jun 16;37(10):1367-1375 PMID: 33226070 PMCID: PMC8208742 SCOPUS ID: 2-s2.0-85108386153 11/24/2020 3 Citations

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 Nov 17;10(11):120 PMID: 33203829 PMCID: PMC7673118 SCOPUS ID: 2-s2.0-85096124110 11/19/2020 2 Citations

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 4 Citations

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 13 Citations

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 23 Citations

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 1 Citation

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 2 Citations

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 13 Citations

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 Dec;140(6):971-975 PMID: 33015733 PMCID: PMC7665968 SCOPUS ID: 2-s2.0-85092164256 10/06/2020 21 Citations

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 Nov;195:187-189 PMID: 32721632 SCOPUS ID: 2-s2.0-85088387849 07/30/2020 1 Citation

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 Aug;77:110-113 PMID: 32712562 SCOPUS ID: 2-s2.0-85088215494 07/28/2020 6 Citations

A homozygous missense variant in UBE2T is associated with a 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 2021 Apr 01;106(4):1188-1192 PMID: 32646888 PMCID: PMC8018101 SCOPUS ID: 2-s2.0-85103682813 07/11/2020 2 Citations

Interaction between Mas1 and AT1RA contributes to enhancement of skeletal muscle angiogenesis by angiotensin-(1-7) in Dahl salt-sensitive rats (Exner EC, Geurts AM, Hoffmann BR, Casati M, Stodola T, Dsouza NR, Zimmermann M, Lombard JH, Greene AS) PLoS ONE April 2020;15(4) SCOPUS ID: 2-s2.0-85083695035 04/01/2020 7 Citations

RNA Sequencing Reveals Cancer-Associated Changes in Laryngeal Cells Exposed to Non-Acid Pepsin. (Samuels TL, Zimmermann MT, Zeighami A, Demos W, Southwood JE, Blumin JH, Bock JM, Johnston N) Laryngoscope 2021 Jan;131(1):121-129 PMID: 32202667 SCOPUS ID: 2-s2.0-85082674385 03/24/2020 26 Citations

Motor Neuron Generation from iPSCs from Identical Twins Discordant for Amyotrophic Lateral Sclerosis. (Seminary ER, Santarriaga S, Wheeler L, Mejaki M, Abrudan J, Demos W, Zimmermann MT, Urrutia RA, Fee D, Barkhaus PE, Ebert AD) Cells 2020 Feb 28;9(3) PMID: 32121108 PMCID: PMC7140469 SCOPUS ID: 2-s2.0-85092221701 03/04/2020 10 Citations

Discovery, expression, cellular localization, and molecular properties of a novel, alternative spliced HP1γ isoform, lacking the chromoshadow domain. (Mathison A, Milech De Assuncao T, Dsouza NR, Williams M, Zimmermann MT, Urrutia R, Lomberk G) PLoS One 2020;15(2):e0217452 PMID: 32027651 PMCID: PMC7004349 SCOPUS ID: 2-s2.0-85079081692 02/07/2020 4 Citations

Novel KLHL26 variant associated with a familial case of Ebstein's anomaly and left ventricular noncompaction. (Samudrala SSK, North LM, Stamm KD, Earing MG, Frommelt MA, Willes R, Tripathi S, Dsouza NR, Zimmermann MT, Mahnke DK, Liang HL, Lund M, Lin CW, Geddes GC, Mitchell ME, Tomita-Mitchell A) Mol Genet Genomic Med 2020 Apr;8(4):e1152 PMID: 31985165 PMCID: PMC7196453 SCOPUS ID: 2-s2.0-85078673520 01/28/2020 9 Citations

Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations. (Kotwal A, Ferrer A, Kumar R, Singh RJ, Murthy V, Schultz-Rogers L, Zimmermann M, Lanpher B, Zimmerman K, Stabach PR, Klee E, Braddock DT, Wermers RA) J Bone Miner Res 2020 Apr;35(4):662-670 PMID: 31826312 PMCID: PMC7771569 SCOPUS ID: 2-s2.0-85078067783 12/12/2019 32 Citations

Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism. (Gupta A, Dsouza NR, Zarate YA, Lombardo R, Hopkin R, Linehan AR, Simpson J, McCarrier J, Agre KE, Gavrilova RH, Stephens MC, Grothe RM, Monaghan KG, Xie Y, Basel D, Urrutia RA, Cole CR, Klee EW, Zimmermann MT) Eur J Med Genet 2020 Apr;63(4):103817 PMID: 31778854 SCOPUS ID: 2-s2.0-85076241133 11/30/2019 8 Citations

Mitochondrial Metabolic Reprogramming by CD36 Signaling Drives Macrophage Inflammatory Responses. (Chen Y, Yang M, Huang W, Chen W, Zhao Y, Schulte ML, Volberding P, Gerbec Z, Zimmermann MT, Zeighami A, Demos W, Zhang J, Knaack DA, Smith BC, Cui W, Malarkannan S, Sodhi K, Shapiro JI, Xie Z, Sahoo D, Silverstein RL) Circ Res 2019 Dec 06;125(12):1087-1102 PMID: 31625810 PMCID: PMC6921463 SCOPUS ID: 2-s2.0-85076330129 10/19/2019 107 Citations

Novel biallelic variants in MSTO1 associated with mitochondrial myopathy. (Schultz-Rogers L, Ferrer A, Dsouza NR, Zimmermann MT, Smith BE, Klee EW, Dhamija R) Cold Spring Harb Mol Case Stud 2019 Dec;5(6) PMID: 31604776 PMCID: PMC6913144 SCOPUS ID: 2-s2.0-85076504636 10/13/2019 5 Citations

RITAN: rapid integration of term annotation and network resources. (Zimmermann MT, Kabat B, Grill DE, Kennedy RB, Poland GA) PeerJ 2019;7:e6994 PMID: 31355053 PMCID: PMC6644632 SCOPUS ID: 2-s2.0-85074134011 07/30/2019 10 Citations

Molecular characterization of known and novel ACVR1 variants in phenotypes of aberrant ossification. (Gupta A, Zimmermann MT, Wang H, Broski SM, Sigafoos AN, Macklin SK, Urrutia RA, Clark KJ, Atwal PS, Pignolo RJ, Klee EW) Am J Med Genet A 2019 Sep;179(9):1764-1777 PMID: 31240838 SCOPUS ID: 2-s2.0-85068139246 06/27/2019 12 Citations

A case of Coffin-Siris syndrome with severe congenital heart disease and a novel SMARCA4 variant. (Dsouza NR, Zimmermann MT, Geddes GC) Cold Spring Harb Mol Case Stud 2019 Jun;5(3) PMID: 31160358 PMCID: PMC6549553 SCOPUS ID: 2-s2.0-85067212433 06/05/2019 9 Citations

Modeling post-translational modifications and cancer-associated mutations that impact the heterochromatin protein 1α-importin α heterodimers. (Zimmermann MT, Williams MM, Klee EW, Lomberk GA, Urrutia R) Proteins 2019 Nov;87(11):904-916 PMID: 31152607 PMCID: PMC6790107 SCOPUS ID: 2-s2.0-85067403924 06/04/2019 4 Citations

Aurora kinase B-phosphorylated HP1α functions in chromosomal instability. (Williams MM, Mathison AJ, Christensen T, Greipp PT, Knutson DL, Klee EW, Zimmermann MT, Iovanna J, Lomberk GA, Urrutia RA) Cell Cycle 2019 Jun;18(12):1407-1421 PMID: 31130069 PMCID: PMC6592258 SCOPUS ID: 2-s2.0-85067316375 05/28/2019 7 Citations

Recurrent MSC ^E116K mutations in ALK-negative anaplastic large cell lymphoma. (Luchtel RA, Zimmermann MT, Hu G, Dasari S, Jiang M, Oishi N, Jacobs HK, Zeng Y, Hundal T, Rech KL, Ketterling RP, Lee JH, Eckloff BW, Yan H, Gaonkar KS, Tian S, Ye Z, Kadin ME, Sidhu J, Jiang L, Voss J, Link BK, Syrbu SI, Facchetti F, Bennani NN, Slager SL, Ordog T, Kocher JP, Cerhan JR, Ansell SM, Feldman AL) Blood 2019 Jun 27;133(26):2776-2789 PMID: 31101622 PMCID: PMC6598380 SCOPUS ID: 2-s2.0-85069235121 05/19/2019 50 Citations

X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia. (Blackburn PR, Lin WL, Miller DA, Lorenzo-Betancor O, Edwards ES, Zimmermann MT, Farrugia LP, Freeman WD, Soto AI, Walton RL, Klee EW, Atwal PS, Abraham RS, Billadeau DD, Ross OA, Dickson DW, Meschia JF) J Neuropathol Exp Neurol 2019 May 01;78(5):460-466 PMID: 30990878 PMCID: PMC6467195 SCOPUS ID: 2-s2.0-85064977307 04/17/2019 7 Citations

Molecular modeling of LDLR aids interpretation of genomic variants. (Klee EW, Zimmermann MT) J Mol Med (Berl) 2019 Apr;97(4):533-540 PMID: 30778614 PMCID: PMC6440939 SCOPUS ID: 2-s2.0-85061714006 02/20/2019 8 Citations

Predict drug sensitivity of cancer cells with pathway activity inference. (Wang X, Sun Z, Zimmermann MT, Bugrim A, Kocher JP) BMC Med Genomics 2019 Jan 31;12(Suppl 1):15 PMID: 30704449 PMCID: PMC6357358 SCOPUS ID: 2-s2.0-85060845256 02/02/2019 30 Citations

The Importance of Biologic Knowledge and Gene Expression Context for Genomic Data Interpretation. (Zimmermann MT) Front Genet 2018;9:670 PMID: 30619486 PMCID: PMC6305277 SCOPUS ID: 2-s2.0-85087274822 01/09/2019 6 Citations

Characteristics of Protein Fold Space Exhibits Close Dependence on Domain Usage (Zimmermann MT, Towfic F, Jernigan RL, Kloczkowski A) Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics) 2019;11465 LNBI:356-369 SCOPUS ID: 2-s2.0-85065832374 01/01/2019

Genetic variations in human papillomavirus and cervical cancer outcomes. (Rader JS, Tsaih SW, Fullin D, Murray MW, Iden M, Zimmermann MT, Flister MJ) Int J Cancer 2019 May 01;144(9):2206-2214 PMID: 30515767 PMCID: PMC6450540 SCOPUS ID: 2-s2.0-85059541854 12/06/2018 20 Citations

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 PMID: 30396366 PMCID: PMC6219207 SCOPUS ID: 2-s2.0-85056274844 11/07/2018 11 Citations

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 PMID: 30197986 PMCID: PMC6127408 SCOPUS ID: 2-s2.0-85049018957 09/11/2018 18 Citations

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 PMID: 30187681 PMCID: PMC6305665 SCOPUS ID: 2-s2.0-85052926167 09/07/2018 5 Citations

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 PMID: 30093168 SCOPUS ID: 2-s2.0-85051044997 08/11/2018 18 Citations

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 PMID: 30090112 PMCID: PMC6068234 SCOPUS ID: 2-s2.0-85067395217 08/10/2018 10 Citations

Correction to: the impact of pharmacokinetic gene profiles across human cancers. (Zimmermann MT, Therneau TM, Kocher JA) BMC Cancer 2018 Jul 18;18(1):743 PMID: 30021563 PMCID: PMC6050650 SCOPUS ID: 2-s2.0-85050264332 07/20/2018

Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded K_v7.1 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 PMID: 29876285 PMCID: PMC5988472 SCOPUS ID: 2-s2.0-85039993420 06/08/2018 4 Citations

The impact of pharmacokinetic gene profiles across human cancers. (Zimmermann MT, Therneau TM, Kocher JA) BMC Cancer 2018 May 21;18(1):577 PMID: 29783934 PMCID: PMC5963084 SCOPUS ID: 2-s2.0-85047362003 05/23/2018 3 Citations

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 PMID: 29617664 PMCID: PMC5961503 SCOPUS ID: 2-s2.0-85044676615 04/05/2018 658 Citations

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 Jan 15;8(1):739 PMID: 29335477 PMCID: PMC5768803 SCOPUS ID: 2-s2.0-85040795492 01/18/2018 21 Citations

Novel NR2F1 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) PMID: 28963436 PMCID: PMC5701304 SCOPUS ID: 2-s2.0-85039764135 10/01/2017 35 Citations

Functional validation reveals the novel missense V419L variant in TGFBR2 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 Jul;3(4) PMID: 28679693 PMCID: PMC5495030 SCOPUS ID: 2-s2.0-85037598912 07/07/2017 7 Citations

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases. (Blackburn PR, Barnett SS, Zimmermann MT, Cousin MA, Kaiwar C, Pinto E Vairo F, Niu Z, Ferber MJ, Urrutia RA, Selcen D, Klee EW, Pichurin PN) Cold Spring Harb Mol Case Stud 2017 May;3(3):a001743 PMID: 28487885 PMCID: PMC5411688 05/11/2017

Integration of Immune Cell Populations, mRNA-Seq, and CpG Methylation to Better Predict Humoral Immunity to Influenza Vaccination: Dependence of mRNA-Seq/CpG Methylation on Immune Cell Populations. (Zimmermann MT, Kennedy RB, Grill DE, Oberg AL, Goergen KM, Ovsyannikova IG, Haralambieva IH, Poland GA) Front Immunol 2017;8:445 PMID: 28484452 PMCID: PMC5399034 SCOPUS ID: 2-s2.0-85018454015 05/10/2017 15 Citations

Genome-wide associations of CD46 and IFI44L genetic variants with neutralizing antibody response to measles vaccine. (Haralambieva IH, Ovsyannikova IG, Kennedy RB, Larrabee BR, Zimmermann MT, Grill DE, Schaid DJ, Poland GA) Hum Genet 2017 Apr;136(4):421-435 PMID: 28289848 PMCID: PMC5433429 SCOPUS ID: 2-s2.0-85015026077 03/16/2017 42 Citations

Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing. (Zimmermann MT, Urrutia R, Oliver GR, Blackburn PR, Cousin MA, Bozeck NJ, Klee EW) PLoS One 2017;12(2):e0170822 PMID: 28182693 PMCID: PMC5300139 SCOPUS ID: 2-s2.0-85012093055 02/10/2017 14 Citations

Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome. (Zimmermann MT, Urrutia RA, Blackburn PR, Cousin MA, Boczek NJ, Klee EW, Macmurdo C, Atwal PS) Case Rep Genet 2017;2017:7263780 PMID: 28163941 PMCID: PMC5253504 02/07/2017

A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding. (Blackburn PR, Tischer A, Zimmermann MT, Kemppainen JL, Sastry S, Knight Johnson AE, Cousin MA, Boczek NJ, Oliver G, Misra VK, Gavrilova RH, Lomberk G, Auton M, Urrutia R, Klee EW) J Biol Chem 2017 Mar 03;292(9):3866-3876 PMID: 28057753 PMCID: PMC5339767 SCOPUS ID: 2-s2.0-85014566714 01/07/2017 15 Citations

Hereditary Lysozyme Amyloidosis Variant p.Leu102Ser Associates with Unique Phenotype. (Nasr SH, Dasari S, Mills JR, Theis JD, Zimmermann MT, Fonseca R, Vrana JA, Lester SJ, McLaughlin BM, Gillespie R, Highsmith WE Jr, Lee JJ, Dispenzieri A, Kurtin PJ) J Am Soc Nephrol 2017 Feb;28(2):431-438 PMID: 28049649 PMCID: PMC5280032 SCOPUS ID: 2-s2.0-85021398424 01/05/2017 23 Citations

The development of non-coding RNA ontology. (Huang J, Eilbeck K, Smith B, Blake JA, Dou D, Huang W, Natale DA, Ruttenberg A, Huan J, Zimmermann MT, Jiang G, Lin Y, Wu B, Strachan HJ, de Silva N, Kasukurthi MV, Jha VK, He Y, Zhang S, Wang X, Liu Z, Borchert GM, Tan M) Int J Data Min Bioinform 2016;15(3):214-232 PMID: 27990175 PMCID: PMC5156483 SCOPUS ID: 2-s2.0-84975847387 12/19/2016 9 Citations

A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics. (Blackburn PR, Zimmermann MT, Gass JM, Harris KG, Cousin MA, Boczek NJ, Ross OA, Klee EW, Brazis PW, Van Gerpen JA, Atwal PS) BMC Med Genet 2016 Dec 05;17(1):93 PMID: 27919237 PMCID: PMC5139108 SCOPUS ID: 2-s2.0-85000613296 12/07/2016 12 Citations

Immunosenescence-Related Transcriptomic and Immunologic Changes in Older Individuals Following Influenza Vaccination. (Kennedy RB, Ovsyannikova IG, Haralambieva IH, Oberg AL, Zimmermann MT, Grill DE, Poland GA) Front Immunol 2016;7:450 PMID: 27853459 PMCID: PMC5089977 SCOPUS ID: 2-s2.0-85006108550 11/18/2016 34 Citations

Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic. (Boczek NJ, Sigafoos AN, Zimmermann MT, Maus RL, Cousin MA, Blackburn PR, Urrutia R, Clark KJ, Patterson MC, Wick MJ, Klee EW) Clin Case Rep 2016 Sep;4(9):885-95 PMID: 27648269 PMCID: PMC5018595 09/21/2016

Single-sample expression-based chemo-sensitivity score improves survival associations independently from genomic mutations for ovarian cancer Patients. (Zimmermann MT, Jiang G, Wang C) AMIA Jt Summits Transl Sci Proc 2016;2016:94-100 PMID: 27570657 PMCID: PMC5001782 08/30/2016

Gene signatures associated with adaptive humoral immunity following seasonal influenza A/H1N1 vaccination. (Ovsyannikova IG, Salk HM, Kennedy RB, Haralambieva IH, Zimmermann MT, Grill DE, Oberg AL, Poland GA) Genes Immun 2016 Dec;17(7):371-379 PMID: 27534615 PMCID: PMC5133148 SCOPUS ID: 2-s2.0-84983059453 08/19/2016 18 Citations

Whole Transcriptome Profiling Identifies CD93 and Other Plasma Cell Survival Factor Genes Associated with Measles-Specific Antibody Response after Vaccination. (Haralambieva IH, Zimmermann MT, Ovsyannikova IG, Grill DE, Oberg AL, Kennedy RB, Poland GA) PLoS One 2016;11(8):e0160970 PMID: 27529750 PMCID: PMC4987012 SCOPUS ID: 2-s2.0-84984830272 08/17/2016 17 Citations

Gene signatures related to HAI response following influenza A/H1N1 vaccine in older individuals. (Ovsyannikova IG, Oberg AL, Kennedy RB, Zimmermann MT, Haralambieva IH, Goergen KM, Grill DE, Poland GA) Heliyon 2016 May;2(5):e00098 PMID: 27441275 PMCID: PMC4946173 SCOPUS ID: 2-s2.0-84981360337 07/22/2016 16 Citations

"The molecule's the thing:" the promise of molecular modeling and dynamic simulations in aiding the prioritization and interpretation of genomic testing results. (Oliver GR, Zimmermann MT, Klee EW, Urrutia RA) F1000Res 2016;5:766 PMID: 27408685 PMCID: PMC4920209 07/14/2016

Transcriptional signatures of influenza A/H1N1-specific IgG memory-like B cell response in older individuals. (Haralambieva IH, Ovsyannikova IG, Kennedy RB, Zimmermann MT, Grill DE, Oberg AL, Poland GA) Vaccine 2016 Jul 25;34(34):3993-4002 PMID: 27317456 PMCID: PMC5520794 SCOPUS ID: 2-s2.0-84979279998 06/19/2016 25 Citations

Novel Type of Renal Amyloidosis Derived from Apolipoprotein-CII. (Nasr SH, Dasari S, Hasadsri L, Theis JD, Vrana JA, Gertz MA, Muppa P, Zimmermann MT, Grogg KL, Dispenzieri A, Sethi S, Highsmith WE Jr, Merlini G, Leung N, Kurtin PJ) J Am Soc Nephrol 2017 Feb;28(2):439-445 PMID: 27297947 PMCID: PMC5280007 SCOPUS ID: 2-s2.0-85016439246 06/15/2016 52 Citations

Recursive Indirect-Paths Modularity (RIP-M) for Detecting Community Structure in RNA-Seq Co-expression Networks. (Rahmani B, Zimmermann MT, Grill DE, Kennedy RB, Oberg AL, White BC, Poland GA, McKinney BA) Front Genet 2016;7:80 PMID: 27242890 PMCID: PMC4861003 SCOPUS ID: 2-s2.0-84975293547 06/01/2016 12 Citations

De novo RRAGC mutation activates mTORC1 signaling in syndromic fetal dilated cardiomyopathy. (Long PA, Zimmermann MT, Kim M, Evans JM, Xu X, Olson TM) Hum Genet 2016 Aug;135(8):909-917 PMID: 27234373 PMCID: PMC4947566 SCOPUS ID: 2-s2.0-84971006595 05/29/2016 23 Citations

The Non-Coding RNA Ontology (NCRO): a comprehensive resource for the unification of non-coding RNA biology. (Huang J, Eilbeck K, Smith B, Blake JA, Dou D, Huang W, Natale DA, Ruttenberg A, Huan J, Zimmermann MT, Jiang G, Lin Y, Wu B, Strachan HJ, He Y, Zhang S, Wang X, Liu Z, Borchert GM, Tan M) J Biomed Semantics 2016;7:24 PMID: 27152146 PMCID: PMC4857245 SCOPUS ID: 2-s2.0-84965074859 05/07/2016 11 Citations

System-Wide Associations between DNA-Methylation, Gene Expression, and Humoral Immune Response to Influenza Vaccination. (Zimmermann MT, Oberg AL, Grill DE, Ovsyannikova IG, Haralambieva IH, Kennedy RB, Poland GA) PLoS One 2016;11(3):e0152034 PMID: 27031986 PMCID: PMC4816338 SCOPUS ID: 2-s2.0-84982076927 04/01/2016 40 Citations

"The molecule's the thing": The promise of molecular modeling and dynamic simulations in aiding the prioritization and interpretation of genomic testing results [version 2; referees: 2 approved, 1 approved with reservations] (Oliver GR, Zimmermann MT, Klee EW, Urrutia RA) F1000Research 2016;5 SCOPUS ID: 2-s2.0-85026335697 01/01/2016

The molecule's the thing"": The promise of molecular modeling and dynamic simulations in aiding the prioritization and interpretation of genomic testing results (Oliver GR, Zimmermann MT, Klee EW, Urrutia RA) F1000Research 2016;5 SCOPUS ID: 2-s2.0-85010943959 01/01/2016 5 Citations

"The molecule's the thing": The promise of molecular modeling and dynamic simulations in aiding the prioritization and interpretation of genomic testing results [version 1; referees: 3 approved with reservations] (Oliver GR, Zimmermann MT, Klee EW, Urrutia RA) F1000Research 2016;5 SCOPUS ID: 2-s2.0-85010934610 01/01/2016

Ribosome Mechanics Informs about Mechanism. (Zimmermann MT, Jia K, Jernigan RL) J Mol Biol 2016 Feb 27;428(5 Pt A):802-810 PMID: 26687034 PMCID: PMC4789072 SCOPUS ID: 2-s2.0-84951804907 12/22/2015 14 Citations

A domain ontology for the Non-Coding RNA field (Huang J, Eilbeck K, Blake JA, Dou D, Natale DA, Ruttenberg A, Smith B, Zimmermann MT, Jiang G, Lin Y, Wu B, He Y, Zhang S, Wang X, Zhang H, Liu Z, Tan M) Proceedings - 2015 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2015 16 December 2015:621-624 SCOPUS ID: 2-s2.0-84962348997 12/16/2015 1 Citation

Whole-exome analysis reveals novel somatic genomic alterations associated with outcome in immunochemotherapy-treated diffuse large B-cell lymphoma. (Novak AJ, Asmann YW, Maurer MJ, Wang C, Slager SL, Hodge LS, Manske M, Price-Troska T, Yang ZZ, Zimmermann MT, Nowakowski GS, Ansell SM, Witzig TE, McPhail E, Ketterling R, Feldman AL, Dogan A, Link BK, Habermann TM, Cerhan JR) Blood Cancer J 2015 Aug 28;5(8):e346 PMID: 26314988 PMCID: PMC4558593 SCOPUS ID: 2-s2.0-84975318451 09/01/2015 52 Citations

A Semantic Web-based System for Mining Genetic Mutations in Cancer Clinical Trials. (Priya S, Jiang G, Dasari S, Zimmermann MT, Wang C, Heflin J, Chute CG) AMIA Jt Summits Transl Sci Proc 2015;2015:142-6 PMID: 26306257 PMCID: PMC4525254 08/26/2015

Drug Normalization for Cancer Therapeutic and Druggable Genome Target Discovery. (Jiang G, Sohn S, Zimmermann MT, Wang C, Liu H, Chute CG) AMIA Jt Summits Transl Sci Proc 2015;2015:72-6 PMID: 26306243 PMCID: PMC4525232 08/26/2015

Adverse Drug Events-based Tumor Stratification for Ovarian Cancer Patients Receiving Platinum Therapy. (Wang C, Zimmermann MT, Chute CG, Jiang G) AMIA Jt Summits Transl Sci Proc 2015;2015:51-5 PMID: 26306234 PMCID: PMC4525249 08/26/2015

Structural origins of misfolding propensity in the platelet adhesive von Willebrand factor A1 domain. (Zimmermann MT, Tischer A, Whitten ST, Auton M) Biophys J 2015 Jul 21;109(2):398-406 PMID: 26200876 PMCID: PMC4621621 SCOPUS ID: 2-s2.0-84937578847 07/23/2015 11 Citations

Recessive MYH6 Mutations in Hypoplastic Left Heart With Reduced Ejection Fraction. (Theis JL, Zimmermann MT, Evans JM, Eckloff BW, Wieben ED, Qureshi MY, O'Leary PW, Olson TM) Circ Cardiovasc Genet 2015 Aug;8(4):564-71 PMID: 26085007 SCOPUS ID: 2-s2.0-84940035829 06/19/2015 61 Citations

PANDA: pathway and annotation explorer for visualizing and interpreting gene-centric data. (Hart SN, Moore RM, Zimmermann MT, Oliver GR, Egan JB, Bryce AH, Kocher JA) PeerJ 2015;3:e970 PMID: 26038725 PMCID: PMC4451017 SCOPUS ID: 2-s2.0-84930614304 06/04/2015 3 Citations

MACE: model based analysis of ChIP-exo. (Wang L, Chen J, Wang C, Uusküla-Reimand L, Chen K, Medina-Rivera A, Young EJ, Zimmermann MT, Yan H, Sun Z, Zhang Y, Wu ST, Huang H, Wilson MD, Kocher JP, Li W) Nucleic Acids Res 2014 Nov 10;42(20):e156 PMID: 25249628 PMCID: PMC4227761 SCOPUS ID: 2-s2.0-84926099280 09/25/2014 63 Citations

TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy. (Theis JL, Zimmermann MT, Larsen BT, Rybakova IN, Long PA, Evans JM, Middha S, de Andrade M, Moss RL, Wieben ED, Michels VV, Olson TM) Hum Mol Genet 2014 Nov 01;23(21):5793-804 PMID: 24925317 PMCID: PMC4189907 SCOPUS ID: 2-s2.0-84911374570 06/14/2014 41 Citations

Understanding protein-nanoparticle interaction: a new gateway to disease therapeutics. (Giri K, Shameer K, Zimmermann MT, Saha S, Chakraborty PK, Sharma A, Arvizo RR, Madden BJ, Mccormick DJ, Kocher JP, Bhattacharya R, Mukherjee P) Bioconjug Chem 2014 Jun 18;25(6):1078-90 PMID: 24831101 PMCID: PMC4128259 SCOPUS ID: 2-s2.0-84902649945 05/17/2014 74 Citations

Elastic network models capture the motions apparent within ensembles of RNA structures. (Zimmermann MT, Jernigan RL) RNA 2014 Jun;20(6):792-804 PMID: 24759093 PMCID: PMC4024634 SCOPUS ID: 2-s2.0-84901471787 04/25/2014 25 Citations

Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses. (Dasari S, Theis JD, Vrana JA, Zenka RM, Zimmermann MT, Kocher JP, Highsmith WE Jr, Kurtin PJ, Dogan A) J Proteome Res 2014 May 02;13(5):2352-8 PMID: 24650283 SCOPUS ID: 2-s2.0-84899824789 03/22/2014 40 Citations

Factors correlating with significant differences between X-ray structures of myoglobin. (Rashin AA, Domagalski MJ, Zimmermann MT, Minor W, Chruszcz M, Jernigan RL) Acta Crystallogr D Biol Crystallogr 2014 Feb;70(Pt 2):481-91 PMID: 24531482 PMCID: PMC3940193 SCOPUS ID: 2-s2.0-84894175971 02/18/2014 8 Citations

Adverse Drug Event-based Stratification of Tumor Mutations: A Case Study of Breast Cancer Patients Receiving Aromatase Inhibitors. (Wang C, Zimmermann MT, Prodduturi N, Chute CG, Jiang G) AMIA Annu Symp Proc 2014;2014:1160-9 PMID: 25954427 PMCID: PMC4419882 SCOPUS ID: 2-s2.0-84964312834 01/01/2014 2 Citations

Computational and experimental characterization of RNA cubic nanoscaffolds. (Afonin KA, Kasprzak W, Bindewald E, Puppala PS, Diehl AR, Hall KT, Kim TJ, Zimmermann MT, Jernigan RL, Jaeger L, Shapiro BA) Methods 2014 May 15;67(2):256-65 PMID: 24189588 PMCID: PMC4007386 SCOPUS ID: 2-s2.0-84899738170 11/06/2013 49 Citations

Revealing rotational modes of functionalized gold nanorods on live cell membranes. (Gu Y, Sun W, Wang G, Zimmermann MT, Jernigan RL, Fang N) Small 2013 Mar 11;9(5):785-92 PMID: 23124917 SCOPUS ID: 2-s2.0-84874710471 11/06/2012 31 Citations

A computational investigation on the connection between dynamics properties of ribosomal proteins and ribosome assembly. (Burton B, Zimmermann MT, Jernigan RL, Wang Y) PLoS Comput Biol 2012;8(5):e1002530 PMID: 22654657 PMCID: PMC3359968 SCOPUS ID: 2-s2.0-84863666750 06/02/2012 21 Citations

Combining statistical potentials with dynamics-based entropies improves selection from protein decoys and docking poses. (Zimmermann MT, Leelananda SP, Kloczkowski A, Jernigan RL) J Phys Chem B 2012 Jun 14;116(23):6725-31 PMID: 22490366 SCOPUS ID: 2-s2.0-84862290983 04/12/2012 22 Citations

Protein loop dynamics are complex and depend on the motions of the whole protein (Zimmermann MT, Jernigan RL) Entropy April 2012;14(4):687-700 SCOPUS ID: 2-s2.0-84860688588 04/01/2012 10 Citations

The importance of slow motions for protein functional loops. (Skliros A, Zimmermann MT, Chakraborty D, Saraswathi S, Katebi AR, Leelananda SP, Kloczkowski A, Jernigan RL) Phys Biol 2012 Feb;9(1):014001 PMID: 22314977 PMCID: PMC3783528 SCOPUS ID: 2-s2.0-84856962357 02/09/2012 20 Citations

MAVENs: motion analysis and visualization of elastic networks and structural ensembles. (Zimmermann MT, Kloczkowski A, Jernigan RL) BMC Bioinformatics 2011 Jun 28;12:264 PMID: 21711533 PMCID: PMC3213244 SCOPUS ID: 2-s2.0-79959582444 06/30/2011 36 Citations

Free energies for coarse-grained proteins by integrating multibody statistical contact potentials with entropies from elastic network models. (Zimmermann MT, Leelananda SP, Gniewek P, Feng Y, Jernigan RL, Kloczkowski A) J Struct Funct Genomics 2011 Jul;12(2):137-47 PMID: 21674234 PMCID: PMC3227679 SCOPUS ID: 2-s2.0-80054031361 06/16/2011 14 Citations

Human telomerase model shows the role of the TEN domain in advancing the double helix for the next polymerization step. (Steczkiewicz K, Zimmermann MT, Kurcinski M, Lewis BA, Dobbs D, Kloczkowski A, Jernigan RL, Kolinski A, Ginalski K) Proc Natl Acad Sci U S A 2011 Jun 07;108(23):9443-8 PMID: 21606328 PMCID: PMC3111281 SCOPUS ID: 2-s2.0-79959357726 05/25/2011 44 Citations

Crystal structure of the CusBA heavy-metal efflux complex of Escherichia coli. (Su CC, Long F, Zimmermann MT, Rajashankar KR, Jernigan RL, Yu EW) Nature 2011 Feb 24;470(7335):558-62 PMID: 21350490 PMCID: PMC3078058 SCOPUS ID: 2-s2.0-79952145187 02/26/2011 167 Citations

ICGA-PSO-ELM approach for accurate multiclass cancer classification resulting in reduced gene sets in which genes encoding secreted proteins are highly represented. (Saraswathi S, Sundaram S, Sundararajan N, Zimmermann M, Nilsen-Hamilton M) IEEE/ACM Trans Comput Biol Bioinform 2011;8(2):452-63 PMID: 21233525 SCOPUS ID: 2-s2.0-79551661137 01/15/2011 107 Citations

Immunoglobulin Structure Exhibits Control over CDR Motion. (Zimmermann MT, Skliros A, Kloczkowski A, Jernigan RL) Immunome Res 2011;7(5) PMID: 25191522 PMCID: PMC4151861 SCOPUS ID: 2-s2.0-84856534275 01/01/2011 4 Citations

Immunoglobulin structure exhibits control over CDR Motion (Zimmermann MT, Skliros A, Kloczkowski A, Jernigan RL) Immunome Research 2011;7(2) SCOPUS ID: 2-s2.0-84856534275 01/01/2011 4 Citations

Immunoglobulin functional motions and their effects on the complementarity determining regions (Zimmermann MT, Skliros A, Saraswathi S, Kloczkowski A, Jernigan RL) 2010 ACM International Conference on Bioinformatics and Computational Biology, ACM-BCB 2010 2010:621-626 SCOPUS ID: 2-s2.0-77958065907 10/25/2010

Immunological implications of a structural analysis of two different porcine IL 1β proteins expressed in macrophages and embryos (Katebi AR, Gniewek P, Zimmermann M, Saraswathi S, Gong Z, Tuggle CK, Kloczkowski A, Jernigan RL) 2010 ACM International Conference on Bioinformatics and Computational Biology, ACM-BCB 2010 2010:653-655 SCOPUS ID: 2-s2.0-77958068276 10/25/2010 3 Citations

Crystal structures of the CusA efflux pump suggest methionine-mediated metal transport. (Long F, Su CC, Zimmermann MT, Boyken SE, Rajashankar KR, Jernigan RL, Yu EW) Nature 2010 Sep 23;467(7314):484-8 PMID: 20865003 PMCID: PMC2946090 SCOPUS ID: 2-s2.0-77957141422 09/25/2010 188 Citations

Short paths in protein structure space originate in graph structure. (Zimmermann M, Towfic F, Jernigan RL, Kloczkowski A) Proc Natl Acad Sci U S A 2009 Dec 22;106(51):E137; author reply E138 PMID: 20018710 PMCID: PMC2799793 SCOPUS ID: 2-s2.0-76049101903 12/19/2009 3 Citations

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Profiles for MCW, MU, MSOE, UWM, BCW, CW, Froedtert, and VA Faculty

Michael T. Zimmermann PhD

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Publications (144)