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Author Details

Helmut Fuchs
Institute of Experimental Genetics, German Mouse Clinic
1999
260
53
PMIDPaper TitleJournal TitlePublished Year
36349687Identifying causal serum protein-cardiometabolic trait relationships using whole genome sequencing.Hum Mol Genet2023
37968388Single-cell, whole-embryo phenotyping of mammalian developmental disorders.Nature2023
37326672A review of standardized high-throughput cardiovascular phenotyping with a link to metabolism in mice.Mamm Genome2023
37221250Echo2Pheno: a deep-learning application to uncover echocardiographic phenotypes in conscious mice.Mamm Genome2023
37160609Knockout mouse models as a resource for the study of rare diseases.Mamm Genome2023
36993625Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).medRxiv2023
37467750Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.Am J Hum Genet2023
37230398AOX delays the onset of the lethal phenotype in a mouse model of Uqcrh (complex III) disease.Biochim Biophys Acta Mol Basis Dis2023
37130781Deletion of SERF2 in mice delays embryonic development and alters amyloid deposit structure in the brain.Life Sci Alliance2023
37294348Comprehensive ECG reference intervals in C57BL/6N substrains provide a generalizable guide for cardiac electrophysiology studies in mice.Mamm Genome2023
36409022Aqp5<sup>-/-</sup> mice exhibit reduced maximal body O<sub>2</sub> consumption under cold exposure, normal pulmonary gas exchange, and impaired formation of brown adipose tissue.Am J Physiol Regul Integr Comp Physiol2023
36538124A rationale for considering heart/brain axis control in neuropsychiatric disease.Mamm Genome2023
36825469Knockout mice are an important tool for human monogenic heart disease studies.Dis Model Mech2023
36565314Knockout of the Complex III subunit Uqcrh causes bioenergetic impairment and cardiac contractile dysfunction.Mamm Genome2023
34312900N471D WASH complex subunit strumpellin knock-in mice display mild motor and cardiac abnormalities and BPTF and KLHL11 dysregulation in brain tissue.Neuropathol Appl Neurobiol2022
35505192Dietary intervention improves health metrics and life expectancy of the genetically obese Titan mouse.Commun Biol2022
35533204Mice lacking the mitochondrial exonuclease MGME1 develop inflammatory kidney disease with glomerular dysfunction.PLoS Genet2022
36396684New C3H Kit<sup>N824K/WT</sup> cancer mouse model develops late-onset malignant mammary tumors with high penetrance.Sci Rep2022
36182809Seizures, ataxia and parvalbumin-expressing interneurons respond to selenium supply in Selenop-deficient mice.Redox Biol2022
36369285Deep phenotyping and lifetime trajectories reveal limited effects of longevity regulators on the aging process in C57BL/6J mice.Nat Commun2022
36270613Validation of Mct8/Oatp1c1 dKO mice as a model organism for the Allan-Herndon-Dudley Syndrome.Mol Metab2022
35893787Thermosensitive PLGA-PEG-PLGA Hydrogel as Depot Matrix for Allergen-Specific Immunotherapy.Pharmaceutics2022
36028522Monitoring longitudinal disease progression in a novel murine Kit tumor model using high-field MRI.Sci Rep2022
36115851Mutations within the cGMP-binding domain of CNGA1 causing autosomal recessive retinitis pigmentosa in human and animal model.Cell Death Discov2022
36083289Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.Genet Med2022
33631790On the Nature of Murine Radiation-Induced Subcapsular Cataracts: Optical Coherence Tomography-Based Fine Classification, In Vivo Dynamics and Impact on Visual Acuity.Radiat Res2022
34964047Post-synaptic scaffold protein TANC2 in psychiatric and somatic disease risk.Dis Model Mech2022
33131190Diabetes type 2 risk gene Dusp8 is associated with altered sucrose reward behavior in mice and humans.Brain Behav2021
33727559Author Correction: Endogenous FGF21-signaling controls paradoxical obesity resistance of UCP1-deficient mice.Nat Commun2021
33773996Creld1 regulates myocardial development and function.J Mol Cell Cardiol2021
34546973Hyperexcitable interneurons trigger cortical spreading depression in an Scn1a migraine model.J Clin Invest2021
34400653Offspring born to influenza A virus infected pregnant mice have increased susceptibility to viral and bacterial infections in early life.Nat Commun2021
34750991Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes.EMBO Mol Med2021
34043061A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse.Mamm Genome2021
34039610Disruption of paternal circadian rhythm affects metabolic health in male offspring via nongerm cell factors.Sci Adv2021
33454312Ionising radiation causes vision impairment in neonatal B6C3F1 mice.Exp Eye Res2021
31591642Soft windowing application to improve analysis of high-throughput phenotyping data.Bioinformatics2020
32060626A comprehensive and comparative phenotypic analysis of the collaborative founder strains identifies new and known phenotypes.Mamm Genome2020
31751552Spectral domain - Optical coherence tomography (SD-OCT) as a monitoring tool for alterations in mouse lenses.Exp Eye Res2020
32106289Mutation in Bmpr1b Leads to Optic Disc Coloboma and Ventral Retinal Gliosis in Mice.Invest Ophthalmol Vis Sci2020
32066665A truncating Aspm allele leads to a complex cognitive phenotype and region-specific reductions in parvalbuminergic neurons.Transl Psychiatry2020
32005798Endogenous FGF21-signaling controls paradoxical obesity resistance of UCP1-deficient mice.Nat Commun2020
31941883Irp2 regulates insulin production through iron-mediated Cdkal1-catalyzed tRNA modification.Nat Commun2020
33370286Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density.PLoS Genet2020
33110090Increased estrogen to androgen ratio enhances immunoglobulin levels and impairs B cell function in male mice.Sci Rep2020
33054088Murine tissue factor disulfide mutation causes a bleeding phenotype with sex specific organ pathology and lethality.Haematologica2020
32593773Physiological relevance of the neuronal isoform of inositol-1,4,5-trisphosphate 3-kinases in mice.Neurosci Lett2020
32923617METTL6 is a tRNA m<sup>3</sup>C methyltransferase that regulates pluripotency and tumor cell growth.Sci Adv2020
32217665The rRNA m<sup>6</sup>A methyltransferase METTL5 is involved in pluripotency and developmental programs.Genes Dev2020
31541322Costs of Implementing Quality in Research Practice.Handb Exp Pharmacol2020
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Collaborators

German Center for Diabetes Research (DZD e.V.)
Co-authored papers 258
Institute of Experimental Genetics, German Mouse Clinic
Co-authored papers 191
Institute of Developmental Genetics, German Research Center for Environmental Health
Co-authored papers 77
German Center for Diabetes Research (DZD)
Co-authored papers 73
German Research Centre for Environmental Health
Co-authored papers 71
Technical University of Munich
Co-authored papers 53
Institut Clinique de la Souris (ICS), Universite de Strasbourg, CNRS, INSERM
Co-authored papers 11
University of Washington
Co-authored papers 10
The Turing Institute
Co-authored papers 9
Wellcome Trust Sanger Institute
Co-authored papers 8
Co-authored papers 8
Mary Lyon Centre at Medical Research Council
Co-authored papers 8
Mary Lyon Centre Harwell Science and Innovation Campus Oxfordshire UK.
Co-authored papers 8
The Hospital for Sick Children
Co-authored papers 8
Universite de Strasbourg, CNRS, INSERM, Institut de La Clinique de La Souris
Co-authored papers 8
Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital
Co-authored papers 7
Technical University of Munich, Institute of Human Genetics
Co-authored papers 7
University of California davis
Co-authored papers 6
University of Tennessee Health Science Center
Co-authored papers 6
European Molecular Biology Laboratory - European Bioinformatics Institute
Co-authored papers 6
European Bioinformatics Institute
Co-authored papers 5
The Turing Institute
Co-authored papers 5
University of Maine
Co-authored papers 5
European Bioinformatics Institute
Co-authored papers 5
Translational and Clinical Research Institute, Newcastle University
Co-authored papers 5
Columbia University.
Co-authored papers 5
Monterotondo Mouse Clinic (MMC), Italian National Research Council (CNR)
Co-authored papers 5
HudsonAlpha Institute for Biotechnology, Stanford University
Co-authored papers 5
The Hospital for Sick Children
Co-authored papers 5
Harwell Institute
Co-authored papers 4