Michael T. Zimmermann, PhD

Publications

• 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

• 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

• 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 SCOPUS ID: 2-s2.0-85078067783 12/12/2019

• 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

• 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. 2020 Mar 23 PMID: 32202667 SCOPUS ID: 2-s2.0-85082674385 03/24/2020

• 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 03/04/2020

• 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

• 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

• 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 12 06;125(12):1087-1102 PMID: 31625810 PMCID: PMC6921463 SCOPUS ID: 2-s2.0-85076330129 10/19/2019

• 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 12;5(6) PMID: 31604776 PMCID: PMC6913144 SCOPUS ID: 2-s2.0-85076504636 10/13/2019

• 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 09;179(9):1764-1777 PMID: 31240838 SCOPUS ID: 2-s2.0-85068139246 06/27/2019

• 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 07/30/2019