Georg F. Hoffmann

Research interests

Publications

• The Genetic Landscape and Epidemiology of Phenylketonuria

  The American Journal of Human Genetics · 2020 · https://doi.org/10.1016/j.ajhg.2020.06.006

• Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

  Brain · 2017 · https://doi.org/10.1093/brain/awx195

• Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

  Orphanet Journal of Rare Diseases · 2017 · https://doi.org/10.1186/s13023-016-0522-z

• Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

  Journal of Inherited Metabolic Disease · 2016 · https://doi.org/10.1007/s10545-016-9999-9

• Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3

  Nature Communications · 2016 · https://doi.org/10.1038/ncomms12039

• Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

  Nature Genetics · 2012 · https://doi.org/10.1038/ng.2497

• Diagnosis and management of glutaric aciduria type I – revised recommendations

  Journal of Inherited Metabolic Disease · 2011 · https://doi.org/10.1007/s10545-011-9289-5

• Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

  The Lancet Neurology · 2010 · https://doi.org/10.1016/s1474-4422(10)70269-6

• Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

  Neurology · 2010 · https://doi.org/10.1212/wnl.0b013e3181e620ae

• The deuterium excess records of EPICA Dome C and Dronning Maud Land ice cores (East Antarctica)

  Quaternary Science Reviews · 2009 · https://doi.org/10.1016/j.quascirev.2009.10.009

• A Review of Antarctic Surface Snow Isotopic Composition: Observations, Atmospheric Circulation, and Isotopic Modeling*

  Journal of Climate · 2008 · https://doi.org/10.1175/2007jcli2139.1

• Water isotope expressions of intrinsic and forced variability in a coupled ocean‐atmosphere model

  Journal of Geophysical Research Atmospheres · 2007 · https://doi.org/10.1029/2006jd007781

• Orbital and Millennial Antarctic Climate Variability over the Past 800,000 Years

  Science · 2007 · https://doi.org/10.1126/science.1141038

• Long-Term Outcome in Methylmalonic Acidurias Is Influenced by the Underlying Defect (mut0, mut−, cblA, cblB)

  Pediatric Research · 2007 · https://doi.org/10.1203/pdr.0b013e3180a0325f

• Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency

  Pediatric Research · 2006 · https://doi.org/10.1203/01.pdr.0000219387.79887.86

• Modeling atmospheric stable water isotopes and the potential for constraining cloud processes and stratosphere‐troposphere water exchange

  Journal of Geophysical Research Atmospheres · 2005 · https://doi.org/10.1029/2005jd005790

• Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase

  Human Molecular Genetics · 2005 · https://doi.org/10.1093/hmg/ddi120

• Magnitude of isotope/temperature scaling for interpretation of central Antarctic ice cores

  Journal of Geophysical Research Atmospheres · 2003 · https://doi.org/10.1029/2002jd002677

• Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications

  PEDIATRICS · 2003 · https://doi.org/10.1542/peds.111.6.1399

• Borehole versus isotope temperatures on Greenland: Seasonality does matter

  Geophysical Research Letters · 2000 · https://doi.org/10.1029/1999gl006075

• Water isotopes in precipitation:

  Quaternary Science Reviews · 2000 · https://doi.org/10.1016/s0277-3791(99)00069-4

• Diffusion of stable isotopes in polar firn and ice: the isotope effect in firn diffusion

  Hokkaido University Collection of Scholarly and Academic Papers (Hokkaido University) · 2000 · https://doi.org/10.7916/d8kw5d4x

• Water isotope module of the ECHAM atmospheric general circulation model: A study on timescales from days to several years

  Journal of Geophysical Research Atmospheres · 1998 · https://doi.org/10.1029/98jd00423

• A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype

  The American Journal of Human Genetics · 1998 · https://doi.org/10.1086/301920

• Validity of the temperature reconstruction from water isotopes in ice cores

  Journal of Geophysical Research Atmospheres · 1997 · https://doi.org/10.1029/97jc01283

Current projects

No projects listed.