Peter Freisinger

8.5k citations

79 papers · 2.9k indexed · h-index 30

Impact in

Clinical Biochemistry top 0.2%
- Metabolism and Genetic Disorders
Rheumatology top 1%
- Osteoarthritis Treatment and Mechanisms
- Folate and B Vitamins Research

Papers in ⓘ

Clinical Biochemistry 45
- Metabolism and Genetic Disorders 45
Biochemistry 12
- Amino Acid Enzymes and Metabolism 8

Co-authors: Jacky Bonaventure (5 shared papers)Johannes A. Mayr (16 shared papers)L Cohen-Solal (2 shared papers)C. Lasselin (1 shared paper)N. Kadhom (1 shared paper)J. Bourguignon (1 shared paper)Wolfgang Sperl (16 shared papers)Thomas Meitinger (11 shared papers)
Journals: Journal of Inherited Metabolic Disease (16 papers)Neuropediatrics (7 papers)The American Journal of Human Genetics (5 papers)Orphanet Journal of Rare Diseases (4 papers)Journal of Medical Genetics (3 papers)
Partner nations: Germany Austria France

In The Last Decade

Peter Freisinger

76 papers receiving 2.8k citations

Peers

Countries citing papers authored by Peter Freisinger

Since Specialization

Citations

This map shows the geographic impact of Peter Freisinger's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Peter Freisinger with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Peter Freisinger more than expected).

Fields of papers citing papers by Peter Freisinger

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Peter Freisinger. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Peter Freisinger. The network helps show where Peter Freisinger may publish in the future.

Co-authors

The 25 scholars most cited alongside Peter Freisinger, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Peter Freisinger Line = papers co-authored together Peter Freisinger links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 79 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Reexpression of Cartilage-Specific Genes by Dedifferentiated Human Articular Chondrocytes Cultured in Alginate Beads Experimental Cell Research ·Jacky Bonaventure, N. Kadhom, L Cohen-Solal, Kenneth Ng, J. Bourguignon, C. Lasselin, Peter Freisinger	1994	423
2	Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis Nature Genetics ·Víctor L. Ruiz‐Pérez, Susan Ide, Tim M. Strom, Bettina Lorenz, David I. Wilson, Kathryn Woods‐Townsend, Lynn King, Clair A. Francomano, Peter Freisinger, Stephanie Spranger, Bruno Marino, Bruno Dallapiccola, Michael Wright, Thomas Meitinger, Mihael H. Polymeropoulos, Judith Goodship	2000	224
3	Mitochondrial Phosphate–Carrier Deficiency: A Novel Disorder of Oxidative Phosphorylation The American Journal of Human Genetics ·Johannes A. Mayr, Olaf Merkel, Sepp D. Kohlwein, Boris Gebhardt, Hansjosef Böhles, Ulrike Fötschl, Johannes Koch, Michaela Jaksch, Hanns Lochmüller, Rita Horváth, Peter Freisinger, Wolfgang Sperl	2007	120
4	Mitochondrial Protein Lipoylation and the 2-Oxoglutarate Dehydrogenase Complex Controls HIF1α Stability in Aerobic Conditions Cell Metabolism ·Stephen P. Burr, Ana S.H. Costa, Guinevere L. Grice, Richard T. Timms, Ian Lobb, Peter Freisinger, Roger B. Dodd, Gordon Dougan, Paul J. Lehner, Christian Frezza, James A. Nathan	2016	120
5	Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy Journal of Medical Genetics ·Johannes Koch, René G. Feichtinger, Peter Freisinger, Mechthild Pies, Falk Schrödl, Arcangela Iuso, Wolfgang Sperl, Johannes A. Mayr, Holger Prokisch, Tobias B. Haack	2016	100
6	ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy The American Journal of Human Genetics ·Tobias B. Haack, Robert Kopajtich, Peter Freisinger, Thomas Wieland, Joanna Rorbach, Thomas J. Nicholls, Enrico Baruffini, Anett Walther, Katharina Danhauser, Franz Zimmermann, Ralf A. Husain, Jessica Schum, Helen Mundy, Ileana Ferrero, Tim M. Strom, Thomas Meitinger, Robert W. Taylor, Michal Minczuk, Johannes A. Mayr, Holger Prokisch	2013	97
7	Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia European Journal of Human Genetics ·Étienne Mornet, A. Taillandier, S Peyramaure, Fiona Kaper, Françoise Müller, Rolf E. Brenner, P Bussière, Peter Freisinger, J. Godard, M. Le Merrer, J.F. Oury, H Plauchu, Roberta Puddu, Rival Jm, Andrea Superti‐Furga, R. Touraine, JL Serre, Brigitte Simon‐Bouy	1998	97
8	Hepatocerebral Mitochondrial DNA Depletion Syndrome Caused by Deoxyguanosine Kinase (DGUOK) Mutations Archives of Neurology ·Peter Freisinger, Nancy Fütterer, Erwin Lankes, Klaus Gempel, Thomas M. Berger, Johannes Spalinger, Alexandra Hoerbe, Claudia Schwantes, Martin Lindner, René Santer, M. Burdelski, Hansjörg Schaefer, Bernhard Setzer, Ulrich A. Walker, Rita Horváth	2006	89
9	Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochromec oxidase deficiency Annals of Neurology ·Valeria Tiranti, Michaela Jaksch, Sabine Hofmann, C. Galimberti, Konstanze Hoertnagel, L. Lulli, Peter Freisinger, Laurence A. Bindoff, Klaus-Dieter Gerbitz, Giacomo P. Comi, Graziella Uziel, Massimo Zeviani, Thomas Meitinger	1999	85
10	Thiamine Pyrophosphokinase Deficiency in Encephalopathic Children with Defects in the Pyruvate Oxidation Pathway The American Journal of Human Genetics ·Johannes A. Mayr, Peter Freisinger, Kurt Schlachter, Boris Rolinski, Franz Zimmermann, T Scheffner, Tobias B. Haack, Johannes Koch, Uwe Ahting, Holger Prokisch, Wolfgang Sperl	2011	78
11	Spectrum of combined respiratory chain defects Journal of Inherited Metabolic Disease ·Johannes A. Mayr, Tobias B. Haack, Peter Freisinger, Daniela Karall, Christine Makowski, Johannes Koch, René G. Feichtinger, Franz Zimmermann, Boris Rolinski, Uwe Ahting, Thomas Meitinger, Holger Prokisch, Wolfgang Sperl	2015	76
12	Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin The American Journal of Human Genetics ·Peter Huppke, Cornelia Brendel, Vera M. Kalscheuer, Georg Christoph Korenke, Iris Marquardt, Peter Freisinger, John Christodoulou, Merle Hillebrand, Gaële Pitelet, Callum Wilson, U Gruber‐Sedlmayr, Reinhard Ullmann, Stefan A. Haas, Orly Elpeleg, Gudrun Nürnberg, Peter Nürnberg, Shzeena Dad, Lisbeth Birk Møller, Stephen G. Kaler, Jutta Gärtner	2012	68
13	Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings Journal of Inherited Metabolic Disease ·Tobias B. Haack, Boris Rolinski, Birgit Haberberger, Franz Zimmermann, Jessica Schum, Valentina Strecker, Elisabeth Graf, Uwe Athing, Thomas Hoppen, Ilka Wittig, Wolfgang Sperl, Peter Freisinger, Johannes A. Mayr, Tim M. Strom, Thomas Meitinger, Holger Prokisch	2012	67
14	Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy Neurology ·Michaela Jaksch, Rita Horváth, Nina Horn, Dorothee P. Auer, Carol Macmillan, Janny L. Peters, Klaus-Dieter Gerbitz, I. Kraegeloh–Mann, Ania C. Muntau, V. Karcagi, R. Kálmánchey, Hanns Lochmüller, Eric A. Shoubridge, Peter Freisinger	2001	67
15	Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown‐Vialetto‐Van Laere syndrome Journal of Inherited Metabolic Disease ·Tobias B. Haack, Christine Makowski, Yoshiaki Yao, Elisabeth Graf, Maja Hempel, Thomas Wieland, Ulrike Tauer, Uwe Ahting, Johannes A. Mayr, Peter Freisinger, Hiroki‎ Yoshimatsu, Ken‐ichi Inui, Tim M. Strom, Thomas Meitinger, Atsushi Yonezawa, Holger Prokisch	2012	66
16	Impact of age at onset and newborn screening on outcome in organic acidurias Journal of Inherited Metabolic Disease ·Jana Herınger, Vassili Valayannopoulos, Allan M. Lund, Frits A. Wijburg, Peter Freisinger, Ivo Barić, Matthias R. Baumgartner, Peter Burgard, Alberto Burlina, Kimberly A. Chapman, Elisenda Cortès i Saladelafont, Daniela Karall, Chris Mühlhausen, Victoria Riches, Manuel Schiff, Jolanta Sykut‐Cegielska, John H. Walter, Jiri Zeman, B. Chabrol, Stefan Kölker	2015	64
17	Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children Neuromuscular Disorders ·Johannes A. Mayr, Franz Zimmermann, Rita Horváth, H.-C. Schneider, Benedikt Schoser, Elke Holinski‐Feder, Birgit Czermin, Peter Freisinger, Wolfgang Sperl	2011	60
18	Abnormal Neurological Features Predict Poor Survival and Should Preclude Liver Transplantation in Patients with Deoxyguanosine Kinase Deficiency Liver Transplantation ·David Dimmock, J. Kay Dunn, Annette Feigenbaum, Anthony Rupar, Rita Horváth, Peter Freisinger, Bénédicte Mousson de Camaret, Lee‐Jun Wong, Fernando Scaglia	2008	56
19	Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation Archives of Disease in Childhood ·Tomáš Honzík, Markéta Tesařová, Johannes A. Mayr, Hana Hansíková, Pavel Ješina, Olaf A. Bodamer, Johannes Koch, Martin Magner, Peter Freisinger, Martina Huemer, Olga Kostková, Rudy Van Coster, Stanislav Kmoch, J Houštěk, Wolfgang Sperl, J Zeman	2010	54
20	Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: Is there a potential effect of copper? Journal of Inherited Metabolic Disease ·Peter Freisinger, Rita Horváth, Carol Macmillan, Janny L. Peters, Michaela Jaksch	2004	54

About Peter Freisinger

Peter Freisinger is a scholar working on Clinical Biochemistry, Biochemistry, Rheumatology, Molecular Biology and Pediatrics, Perinatology and Child Health, having authored 79 papers that have together received 2.9k indexed citations. Recurring topics across this work include Metabolism and Genetic Disorders (45 papers), Mitochondrial Function and Pathology (31 papers), Neonatal Health and Biochemistry (11 papers), ATP Synthase and ATPases Research (9 papers), Diet and metabolism studies (9 papers), Amino Acid Enzymes and Metabolism (8 papers), RNA modifications and cancer (5 papers) and Connective tissue disorders research (5 papers). The work is most often cited by research in Clinical Biochemistry (993 citations), Rheumatology (634 citations), Molecular Biology (1.7k citations), Biochemistry (177 citations) and Urology (123 citations). Peter Freisinger has collaborated with scholars based in Germany, Austria and France. Frequent co-authors include Jacky Bonaventure, Johannes A. Mayr, L Cohen-Solal, C. Lasselin, N. Kadhom, J. Bourguignon, Wolfgang Sperl, Thomas Meitinger, Holger Prokisch and Rita Horváth. Their work appears in journals such as Journal of Inherited Metabolic Disease, Neuropediatrics, The American Journal of Human Genetics, Orphanet Journal of Rare Diseases and Journal of Medical Genetics.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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