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Author Details
Full Name
Michael T Zimmermann
Affiliation
Medical College of Wisconsin
ORCID
Career Start Year
2009
Papers
106
H Index
24
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
36745126
Impact of integrated translational research on clinical exome sequencing.
Genet Med
2023
34414607
Computational modeling reveals key molecular properties and dynamic behavior of disruptor of telomeric silencing 1-like (DOT1L) and partnering complexes involved in leukemogenesis.
Proteins
2022
35615018
Structural bioinformatics enhances the interpretation of somatic mutations in KDM6A found in human cancers.
Comput Struct Biotechnol J
2022
35469044
NADPH oxidase 4 contributes to TRPV4-mediated endothelium-dependent vasodilation in human arterioles by regulating protein phosphorylation of TRPV4 channels.
Basic Res Cardiol
2022
35205286
Microglia 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 Genet
2022
32202667
RNA Sequencing Reveals Cancer-Associated Changes in Laryngeal Cells Exposed to Non-Acid Pepsin.
Laryngoscope
2021
33546721
Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.
Orphanet J Rare Dis
2021
33876203
SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.
Blood
2021
33844317
RNA Sequencing and Pathways Analyses of Middle Ear Epithelia From Patients With Otitis Media.
Laryngoscope
2021
33754402
Germline evaluation of patients undergoing tumor genomic profiling: An academic cancer center's experience with implementing a germline review protocol.
J Genet Couns
2021
33747920
Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.
Front Oncol
2021
34976316
Enhanced interpretation of 935 hotspot and non-hotspot RAS variants using evidence-based structural bioinformatics.
Comput Struct Biotechnol J
2021
34377961
P<sup>2</sup>T<sup>2</sup>: Protein Panoramic annoTation Tool for the interpretation of protein coding genetic variants.
JAMIA Open
2021
34649604
Kras<sup>G12D</sup> induces changes in chromatin territories that differentially impact early nuclear reprogramming in pancreatic cells.
Genome Biol
2021
34249932
Inactivation 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 Biol
2021
34074320
Correction to: Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.
Orphanet J Rare Dis
2021
34040190
Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.
Genet Med
2021
34211179
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Nat Genet
2021
33144682
Impact of integrated translational research on clinical exome sequencing.
Genet Med
2021
33226070
Structural bioinformatics enhances mechanistic interpretation of genomic variation, demonstrated through the analyses of 935 distinct RAS family mutations.
Bioinformatics
2021
33140240
POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development.
J Clin Immunol
2021
32646888
A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype.
Haematologica
2021
32324784
Interaction between Mas1 and AT1RA contributes to enhancement of skeletal muscle angiogenesis by angiotensin-(1-7) in Dahl salt-sensitive rats.
PLoS One
2020
32027651
Discovery, expression, cellular localization, and molecular properties of a novel, alternative spliced HP1γ isoform, lacking the chromoshadow domain.
PLoS One
2020
31778854
Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism.
Eur J Med Genet
2020
31985165
Novel KLHL26 variant associated with a familial case of Ebstein's anomaly and left ventricular noncompaction.
Mol Genet Genomic Med
2020
31826312
Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations.
J Bone Miner Res
2020
33154747
Polymorphisms in STING Affect Human Innate Immune Responses to Poxviruses.
Front Immunol
2020
33203829
Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes.
Blood Cancer J
2020
32712562
Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome.
Parkinsonism Relat Disord
2020
32721632
Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa.
Thromb Res
2020
32121108
Motor Neuron Generation from iPSCs from Identical Twins Discordant for Amyotrophic Lateral Sclerosis.
Cells
2020
30515767
Genetic variations in human papillomavirus and cervical cancer outcomes.
Int J Cancer
2019
31355053
RITAN: rapid integration of term annotation and network resources.
PeerJ
2019
31240838
Molecular characterization of known and novel ACVR1 variants in phenotypes of aberrant ossification.
Am J Med Genet A
2019
31604776
Novel biallelic variants in <i>MSTO1</i> associated with mitochondrial myopathy.
Cold Spring Harb Mol Case Stud
2019
31625810
Mitochondrial Metabolic Reprogramming by CD36 Signaling Drives Macrophage Inflammatory Responses.
Circ Res
2019
31130069
Aurora kinase B-phosphorylated HP1α functions in chromosomal instability.
Cell Cycle
2019
30778614
Molecular modeling of LDLR aids interpretation of genomic variants.
J Mol Med (Berl)
2019
31152607
Modeling post-translational modifications and cancer-associated mutations that impact the heterochromatin protein 1α-importin α heterodimers.
Proteins
2019
30704449
Predict drug sensitivity of cancer cells with pathway activity inference.
BMC Med Genomics
2019
30990878
X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia.
J Neuropathol Exp Neurol
2019
31160358
A case of Coffin-Siris syndrome with severe congenital heart disease and a novel <i>SMARCA4</i> variant.
Cold Spring Harb Mol Case Stud
2019
29335477
Transcriptomic signatures of cellular and humoral immune responses in older adults after seasonal influenza vaccination identified by data-driven clustering.
Sci Rep
2018
30187681
Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II.
Mol Genet Genomic Med
2018
30021563
Correction to: the impact of pharmacokinetic gene profiles across human cancers.
BMC Cancer
2018
30093168
A Patient With Hereditary ATTR and a Novel AGel p.Ala578Pro Amyloidosis.
Mayo Clin Proc
2018
30090112
Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties.
Front Genet
2018
30197986
Apolipoprotein CII Amyloidosis Associated With p.Lys41Thr Mutation.
Kidney Int Rep
2018
1 - 50 of 106
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