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R. Fingerhut · SciRah

Researcher profile · Semantic Scholar

R. Fingerhut

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R. Fingerhut — researcher profile on SciRah

h-index: 34
Works: 98
Citations: 3,367

Most-cited papers

Treatment of a metabolic liver disease by in vivo genome base editing in adult mice
L. Villiger, H. M. Grisch-Chan, Helen Lindsay, Femke C. A. Ringnalda +8 more
2018Nature Medicine374 citations Open access
Semantic Scholar
Multiple Phenotypes in Phosphoglucomutase 1 Deficiency
L. Tegtmeyer, S. Rust, M. van Scherpenzeel, B. Ng +46 more
2014New England Journal of Medicine239 citations Open access
Semantic Scholar
Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
J. Loeber, Dimitris Platis, R. Zetterström, S. Almashanu +43 more
2021International Journal of Neonatal Screening204 citations Open access
Semantic Scholar
Purification and characterization of an alpha-methylacyl-CoA racemase from human liver.
W. Schmitz, Christine Albers, R. Fingerhut, E. Conzelmann
1995European Journal of Biochemistry137 citations
Semantic Scholar
Newborn screening for sickle cell disease in Europe: recommendations from a Pan‐European Consensus Conference
S. Lobitz, P. Telfer, E. Cela, Bichr Allaf +41 more
2018British Journal of Haematology135 citations Open access
Semantic Scholar
Screening for congenital adrenal hyperplasia: adjustment of 17-hydroxyprogesterone cut-off values to both age and birth weight markedly improves the predictive value.
B. Olgemöller, A. Roscher, B. Liebl, R. Fingerhut
2003Journal of Clinical Endocrinology and Metabolism130 citations
Semantic Scholar
Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium‐chain acyl‐CoA dehydrogenase deficiency
Esther M. Maier, B. Liebl, W. Röschinger, U. Nennstiel-Ratzel +6 more
2005Human Mutation114 citations
Semantic Scholar
Newborn screening for 3‐methylcrotonyl‐CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment
S. Stadler, R. Polanetz, E. Maier, Sylvia C. Heidenreich +22 more
2006Human Mutation89 citations
Semantic Scholar
Universal Salt Iodization Provides Sufficient Dietary Iodine to Achieve Adequate Iodine Nutrition during the First 1000 Days: A Cross-Sectional Multicenter Study.
Susanne Dold, M. Zimmermann, T. Jukić, Z. Kusic +9 more
2018Journal of NutriLife88 citations Open access
Semantic Scholar
Stability of acylcarnitines and free carnitine in dried blood samples: implications for retrospective diagnosis of inborn errors of metabolism and neonatal screening for carnitine transporter deficiency.
R. Fingerhut, R. Ensenauer, W. Röschinger, R. Arnecke +2 more
2009Analytical Chemistry79 citations Open access
Semantic Scholar
How different constituents of human plasma and low density lipoprotein determine plasma oxidizability by copper.
T. Spranger, B. Finckh, R. Fingerhut, A. Kohlschütter +2 more
1998Chemistry and Physics of Lipids73 citations
Semantic Scholar
Very high compliance in an expanded MS-MS-based newborn screening program despite written parental consent.
B. Liebl, U. Nennstiel-Ratzel, R. von Kries, R. Fingerhut +3 more
2002Preventive Medicine71 citations
Semantic Scholar
Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls
A. Das, R. Fingerhut, R. Wanders, Kurt Ullrich
2000European Journal of Pediatrics61 citations
Semantic Scholar
Effect of Excess Iodine Intake from Iodized Salt and/or Groundwater Iodine on Thyroid Function in Nonpregnant and Pregnant Women, Infants, and Children: A Multicenter Study in East Africa
J. Farebrother, M. Zimmermann, Fatma Abdallah, V. Assey +8 more
2018Thyroid60 citations Open access
Semantic Scholar
Dried Blood Spot Thyroglobulin as a Biomarker of Iodine Status in Pregnant Women
S. Stinca, M. Andersson, S. Weibel, I. Herter-Aeberli +11 more
2017Journal of Clinical Endocrinology and Metabolism60 citations Open access
Semantic Scholar
Essential amino acid transporter Lat4 (Slc43a2) is required for mouse development
A. Guetg, Luca Mariotta, Lukas Bock, B. Herzog +3 more
2015Journal of Physiology59 citations Open access
Semantic Scholar
Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase deficiency.
S. Kösel, S. Burggraf, R. Fingerhut, H. Dörr +2 more
2005Clinical Chemistry57 citations Open access
Semantic Scholar
Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders
P. Monostori, Glynis Klinke, Sylvia Richter, Á. Baráth +6 more
2017PLoS ONE55 citations Open access
Semantic Scholar
False positive rate in newborn screening for congenital adrenal hyperplasia (CAH)-ether extraction reveals two distinct reasons for elevated 17alpha-hydroxyprogesterone (17-OHP) values.
R. Fingerhut
2009Steroids55 citations
Semantic Scholar
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.
D. D. Hinson, Z. Rogers, G. Hoffmann, M. Schachtele +4 more
1998American journal of medical genetics55 citations
Semantic Scholar
Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo.
S. Gersting, F. Lagler, A. Eichinger, K. Kemter +9 more
2010Human Molecular Genetics53 citations Open access
Semantic Scholar
Nerve cell lesions caused by 3-hydroxyglutaric acid: A possible mechanism for neurodegeneration in glutaric acidaemia I
B. Flott-Rahmel, C. Falter, P. Schluff, R. Fingerhut +7 more
1997Journal of Inherited Metabolic Disease53 citations
Semantic Scholar
Effectiveness of increased salt iodine concentration on iodine status: trend analysis of cross-sectional national studies in Switzerland
M. Andersson, Sandra Hunziker, R. Fingerhut, M. Zimmermann +1 more
2019European Journal of Nutrition49 citations Open access
Semantic Scholar
Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations
C. Díez‐Fernández, V. Rüfenacht, C. Gemperle, R. Fingerhut +1 more
2018Human Mutation49 citations
Semantic Scholar
Newborn screening for cystic fibrosis - The parent perspective.
C. Rueegg, J. Barben, G. Hafen, A. Moeller +3 more
2016Journal of Cystic Fibrosis48 citations Open access
Semantic Scholar
Advances in analytical mass spectrometry to improve screening for inherited metabolic diseases
W. Röschinger, B. Olgemöller, R. Fingerhut, B. Liebl +1 more
2003European Journal of Pediatrics45 citations
Semantic Scholar
Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy
Lynne Rumping, Benjamin Büttner, O. Maier, H. Rehmann +14 more
2019JAMA Neurology44 citations Open access
Semantic Scholar
Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis.
M. Zimmermann, P. Jacobs, R. Fingerhut, T. Torresani +4 more
2012Molecular Genetics and Metabolism43 citations
Semantic Scholar
Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency.
R. Santer, R. Fingerhut, U. Lässker, P. Wightman +3 more
2003Clinical Chemistry42 citations
Semantic Scholar
Newborn screening for isovaleric acidemia using tandem mass spectrometry: data from 1.6 million newborns.
R. Ensenauer, R. Fingerhut, E. Maier, R. Polanetz +3 more
2011Clinical Chemistry40 citations Open access
Semantic Scholar
Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect*
P. Forny, A. Schumann, Merima Mustedanagic, D. Mathis +15 more
2016Journal of Biological Chemistry37 citations Open access
Semantic Scholar
Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency.
G. Korner, D. Noain, Ming Ying, M. Hole +14 more
2015Brain : a journal of neurology37 citations Open access
Semantic Scholar
Homocysteic and homocysteine sulphinic acid exhibit excitotoxicity in organotypic cultures from rat brain
B. Flott-Rahmel, M. Schürmann, P. Schluff, R. Fingerhut +3 more
1998European Journal of Pediatrics37 citations
Semantic Scholar
Limitations of galactose therapy in phosphoglucomutase 1 deficiency
K. Nolting, Julien H. Park, L. Tegtmeyer, A. Zühlsdorf +12 more
2017Molecular Genetics and Metabolism Reports35 citations Open access
Semantic Scholar
Newborn screening for inborn errors of metabolism and endocrinopathies: an update
R. Fingerhut, B. Olgemöller
2009Analytical and Bioanalytical Chemistry28 citations Open access
Semantic Scholar
Swiss newborn screening for severe T and B cell deficiency with a combined TREC/KREC assay - management recommendations.
J. Trück, S. Prader, G. Natalucci, C. Hagmann +12 more
2020Swiss medical weekly25 citations Open access
Semantic Scholar
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3
Muhammad Ansar, Hyung-Lok Chung, Y. M. Waryah, P. Makrythanasis +10 more
2018Human Molecular Genetics24 citations Open access
Semantic Scholar
Expanded newborn screening in Bavaria: tracking to achieve requested repeat testing.
B. Liebl, U. Nennstiel-Ratzel, R. von Kries, R. Fingerhut +3 more
2002Preventive Medicine24 citations
Semantic Scholar
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.
Federica Conte, E. Morava, N. A. Bakar, S. Wortmann +15 more
2020Molecular Genetics and Metabolism23 citations Open access
Semantic Scholar
Regulatory landscape of providing information on newborn screening to parents across Europe
V. Franková, Riona O. Driscoll, M. Jansen, J. Loeber +27 more
2020European Journal of Human Genetics22 citations Open access
Semantic Scholar
A simple dried blood spot-method for in vivo measurement of ureagenesis by gas chromatography-mass spectrometry using stable isotopes.
Gabriella Allegri, Sereina Deplazes, H. M. Grisch-Chan, D. Mathis +3 more
2017Clinica chimica acta; international journal of clinical chemistry22 citations Open access
Semantic Scholar
Analysis of succinylacetone, as a Girard T derivative, in urine and dried bloodspots by flow injection electrospray ionization tandem mass spectrometry.
David W. Johnson, R. Gerace, E. Ranieri, Minh-Uyen Trinh +1 more
2007Rapid Communications in Mass Spectrometry21 citations
Semantic Scholar
Determination of EDTA in dried blood samples by tandem mass spectrometry avoids serious errors in newborn screening
R. Fingerhut, Torsten Dame, B. Olgemöller
2009European Journal of Pediatrics20 citations Open access
Semantic Scholar
First experience with a fully automated extraction system for simultaneous on-line direct tandem mass spectrometric analysis of amino acids and (acyl-)carnitines in a newborn screening setting.
R. Fingerhut, Maria Lucia Silva Polanco, Gabriel de Jesus Silva Arevalo, M. Świderska
2014Rapid Communications in Mass Spectrometry19 citations
Semantic Scholar
Newborn screening for cystic fibrosis in Switzerland--consequences after analysis of a 4 months pilot study.
T. Torresani, R. Fingerhut, C. Rueegg, S. Gallati +3 more
2012Journal of Cystic Fibrosis19 citations Open access
Semantic Scholar
Retrospective analysis of stored dried blood spots from children with cystic fibrosis and matched controls to assess the performance of a proposed newborn screening protocol in Switzerland.
J. Barben, S. Gallati, R. Fingerhut, M. Schoeni +2 more
2012Journal of Cystic Fibrosis18 citations Open access
Semantic Scholar
Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age‐dependency of ammonia detoxification
Gabriella Allegri, Sereina Deplazes, Nicole Rimann, B. Causton +11 more
2019Journal of Inherited Metabolic Disease17 citations
Semantic Scholar
Evaluation of the genetic screening processor (GSP™) for newborn screening
R. Fingerhut, T. Torresani
201317 citations Open access
Semantic Scholar
New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
F. Lagler, S. Gersting, C. Zsifkovits, Alice Steinbacher +6 more
2010Biochemical Pharmacology17 citations
Semantic Scholar
Maple syrup urine disease: newborn screening fails to discriminate between classic and variant forms.
R. Fingerhut, E. Simon, E. Maier, J. Hennermann +1 more
2008Clinical Chemistry17 citations
Semantic Scholar

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B. Olgemöller×12
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A. Roscher×8
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B. Liebl×6
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