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Author Details

Michael T Zimmermann
Medical College of Wisconsin
2009
106
24
PMIDPaper TitleJournal TitlePublished Year
36745126Impact of integrated translational research on clinical exome sequencing.Genet Med2023
34414607Computational modeling reveals key molecular properties and dynamic behavior of disruptor of telomeric silencing 1-like (DOT1L) and partnering complexes involved in leukemogenesis.Proteins2022
35615018Structural bioinformatics enhances the interpretation of somatic mutations in KDM6A found in human cancers.Comput Struct Biotechnol J2022
35469044NADPH oxidase 4 contributes to TRPV4-mediated endothelium-dependent vasodilation in human arterioles by regulating protein phosphorylation of TRPV4 channels.Basic Res Cardiol2022
35205286Microglia Influence Neurofilament Deposition in ALS iPSC-Derived Motor Neurons.Genes (Basel)2022
34930816<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disability.J Med Genet2022
32202667RNA Sequencing Reveals Cancer-Associated Changes in Laryngeal Cells Exposed to Non-Acid Pepsin.Laryngoscope2021
33546721Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.Orphanet J Rare Dis2021
33876203SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.Blood2021
33844317RNA Sequencing and Pathways Analyses of Middle Ear Epithelia From Patients With Otitis Media.Laryngoscope2021
33754402Germline evaluation of patients undergoing tumor genomic profiling: An academic cancer center's experience with implementing a germline review protocol.J Genet Couns2021
33747920Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.Front Oncol2021
34976316Enhanced interpretation of 935 hotspot and non-hotspot RAS variants using evidence-based structural bioinformatics.Comput Struct Biotechnol J2021
34377961P<sup>2</sup>T<sup>2</sup>: Protein Panoramic annoTation Tool for the interpretation of protein coding genetic variants.JAMIA Open2021
34649604Kras<sup>G12D</sup> induces changes in chromatin territories that differentially impact early nuclear reprogramming in pancreatic cells.Genome Biol2021
34249932Inactivation of the Euchromatic Histone-Lysine <i>N</i>-Methyltransferase 2 Pathway in Pancreatic Epithelial Cells Antagonizes Cancer Initiation and Pancreatitis-Associated Promotion by Altering Growth and Immune Gene Expression Networks.Front Cell Dev Biol2021
34074320Correction to: Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.Orphanet J Rare Dis2021
34040190Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.Genet Med2021
34211179Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.Nat Genet2021
33144682Impact of integrated translational research on clinical exome sequencing.Genet Med2021
33226070Structural bioinformatics enhances mechanistic interpretation of genomic variation, demonstrated through the analyses of 935 distinct RAS family mutations.Bioinformatics2021
33140240POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development.J Clin Immunol2021
32646888A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype.Haematologica2021
32324784Interaction between Mas1 and AT1RA contributes to enhancement of skeletal muscle angiogenesis by angiotensin-(1-7) in Dahl salt-sensitive rats.PLoS One2020
32027651Discovery, expression, cellular localization, and molecular properties of a novel, alternative spliced HP1γ isoform, lacking the chromoshadow domain.PLoS One2020
31778854Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism.Eur J Med Genet2020
31985165Novel KLHL26 variant associated with a familial case of Ebstein's anomaly and left ventricular noncompaction.Mol Genet Genomic Med2020
31826312Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations.J Bone Miner Res2020
33154747Polymorphisms in STING Affect Human Innate Immune Responses to Poxviruses.Front Immunol2020
33203829Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes.Blood Cancer J2020
32712562Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome.Parkinsonism Relat Disord2020
32721632Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa.Thromb Res2020
32121108Motor Neuron Generation from iPSCs from Identical Twins Discordant for Amyotrophic Lateral Sclerosis.Cells2020
30515767Genetic variations in human papillomavirus and cervical cancer outcomes.Int J Cancer2019
31355053RITAN: rapid integration of term annotation and network resources.PeerJ2019
31240838Molecular characterization of known and novel ACVR1 variants in phenotypes of aberrant ossification.Am J Med Genet A2019
31604776Novel biallelic variants in <i>MSTO1</i> associated with mitochondrial myopathy.Cold Spring Harb Mol Case Stud2019
31625810Mitochondrial Metabolic Reprogramming by CD36 Signaling Drives Macrophage Inflammatory Responses.Circ Res2019
31130069Aurora kinase B-phosphorylated HP1α functions in chromosomal instability.Cell Cycle2019
30778614Molecular modeling of LDLR aids interpretation of genomic variants.J Mol Med (Berl)2019
31152607Modeling post-translational modifications and cancer-associated mutations that impact the heterochromatin protein 1α-importin α heterodimers.Proteins2019
30704449Predict drug sensitivity of cancer cells with pathway activity inference.BMC Med Genomics2019
30990878X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia.J Neuropathol Exp Neurol2019
31160358A case of Coffin-Siris syndrome with severe congenital heart disease and a novel <i>SMARCA4</i> variant.Cold Spring Harb Mol Case Stud2019
29335477Transcriptomic signatures of cellular and humoral immune responses in older adults after seasonal influenza vaccination identified by data-driven clustering.Sci Rep2018
30187681Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II.Mol Genet Genomic Med2018
30021563Correction to: the impact of pharmacokinetic gene profiles across human cancers.BMC Cancer2018
30093168A Patient With Hereditary ATTR and a Novel AGel p.Ala578Pro Amyloidosis.Mayo Clin Proc2018
30090112Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties.Front Genet2018
30197986Apolipoprotein CII Amyloidosis Associated With p.Lys41Thr Mutation.Kidney Int Rep2018
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Collaborators

Mayo Clinic College of Medicine and Science
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Mayo Clinic Vaccine Research Group
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Mayo Clinic Rochester Minnesota USA.
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Center for Individualized Medicine, Mayo Clinic
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Brown University, Brown University Warren Alpert Medical School, Dartmouth-Hitchcock Medical Center, Harvard School of Public Health, Johns Hopkins Medicine, Mayo Clinic Minnesota
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School of Pharmaceutical Sciences, Sun Yat-sen University
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National Institute of Allergy and Infectious Diseases
Co-authored papers 2
Georgetown University Medical Center
Co-authored papers 2
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University of Michigan Medical School ann arbor
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Mayo Clinic Rochester
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University at Buffalo
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Center for Individualized Medicine, College of Medicine, Mayo Clinic
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University at Buffalo
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University of Utah
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Mayo Clinic Gastroenterology and Hepatology, Mayo Clinic
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SickKids Research Institute
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