Michael T. Zimmermann, PhD

Publications

• 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 07/03/2021

• 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

• 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

• 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 May 26 PMID: 34040190 05/28/2021

• 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

• 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 02 05;16(1):66 PMID: 33546721 PMCID: PMC7866879 SCOPUS ID: 2-s2.0-85100579633 02/07/2021

• 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 07/13/2021

• LPCAT1-TERT fusions are uniquely recurrent in epithelioid trophoblastic tumors and positively regulate cell growth.

  (Oliver GR, Marcano-Bonilla S, Quist J, Tolosa EJ, Iguchi E, Swanson AA, Hoppman NL, Schwab T, Sigafoos A, Prodduturi N, Voss JS, Knight SM, Zhang J, Fadra N, Urrutia R, Zimmerman M, Egan JB, Bilyeu AG, Jen J, Veras E, Al-Safi R, Block M, Kerr S, Fernandez-Zapico ME, Schoolmeester JK, Klee EW.) PLoS One. 2021;16(5):e0250518 PMID: 34033669 PMCID: PMC8148365 SCOPUS ID: 2-s2.0-85106573389 05/26/2021

• 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

• 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

• 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