René Santer

10.7k total citations · 1 hit paper
145 papers, 5.1k citations indexed

About

René Santer is a scholar working on Molecular Biology, Clinical Biochemistry and Physiology. According to data from OpenAlex, René Santer has authored 145 papers receiving a total of 5.1k indexed citations (citations by other indexed papers that have themselves been cited), including 64 papers in Molecular Biology, 48 papers in Clinical Biochemistry and 36 papers in Physiology. Recurrent topics in René Santer's work include Metabolism and Genetic Disorders (48 papers), Glycogen Storage Diseases and Myoclonus (27 papers) and Mitochondrial Function and Pathology (25 papers). René Santer is often cited by papers focused on Metabolism and Genetic Disorders (48 papers), Glycogen Storage Diseases and Myoclonus (27 papers) and Mitochondrial Function and Pathology (25 papers). René Santer collaborates with scholars based in Germany, United States and Switzerland. René Santer's co-authors include Joaquim Calado, Reinhard Schneppenheim, Jürgen Schaub, J. Schaub, Beat Steinmann, Johannes Häberle, B Steinmann, Carlo Dionisi‐Vici, Martin Lindner and Martina Huemer and has published in prestigious journals such as Journal of Biological Chemistry, Nature Genetics and SHILAP Revista de lepidopterología.

In The Last Decade

René Santer

144 papers receiving 4.9k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

2019 268 citations René Santer, Martina Huemer et al. profile →

Peers

Countries citing papers authored by René Santer

Since Specialization

Citations

This map shows the geographic impact of René Santer'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 René Santer with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites René Santer more than expected).

Fields of papers citing papers by René Santer

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by René Santer. 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 René Santer. The network helps show where René Santer may publish in the future.

Co-authorship network of co-authors of René Santer

This figure shows the co-authorship network connecting the top 25 collaborators of René Santer. A scholar is included among the top collaborators of René Santer based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with René Santer. René Santer is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease 2024 ·Journal of Biological Chemistry ·(unknown), (unknown), Kurt Ullrich, Simona Murko, Tatjana Bierhals, (unknown), (unknown), (unknown), René Santer, Thomas J. Jentsch	5
2	Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease 2023 ·Molecular Genetics and Metabolism ·Amelie T. van der Ven, Alfredo Cabrera‐Orefice, (unknown), René G. Feichtinger, Konstantinos Tsiakas, Deike Weiss, Tatjana Bierhals, (unknown), Holger Prokisch, Robert Kopajtich, René Santer, Johannes A. Mayr, Maja Hempel, Ilka Wittig	4
3	Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies 2022 ·European Journal of Human Genetics ·Miriam S. Reuter, Michael Zech, Maja Hempel, Janine Altmüller, Tracy Heung, (unknown), René Santer, Hölger Thiele, Brett Trost, Christian Kubisch, Stephen W. Scherer, Sabine Rudnik‐Schöneborn, Anne S. Bassett, Davor Lessel	3
4	Effects of Infantile Hypophosphatasia on Human Dental Tissue 2022 ·Calcified Tissue International ·Eva Maria Wölfel, Simon von Kroge, (unknown), Till Koehne, (unknown), Thomas Beikler, (unknown), Bärbel Kahl‐Nieke, Konstantinos Tsiakas, René Santer, Nicole Muschol, Jochen Herrmann, Björn Busse, Michael Amling, Tim Rolvien, Nico Maximilian Jandl, Florian Barvencik	6
5	Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort 2021 ·Clinical Genetics ·Amelie T. van der Ven, Jessika Johannsen, Fanny Kortüm, Matias Wagner, Konstantinos Tsiakas, Tatjana Bierhals, Davor Lessel, Theresia Herget, Katja Kloth, Jasmin Lisfeld, (unknown), Nadia Obi, Saskia B. Wortmann, Holger Prokisch, Christian Kubisch, Jonas Denecke, René Santer, Maja Hempel	8
6	SARS Coronavirus-2 variant tracing within the first Coronavirus Disease 19 clusters in northern Germany 2020 ·Clinical Microbiology and Infection ·Susanne Pfefferle, Thomas Günther, Robin Kobbe, Manja Czech‐Sioli, (unknown), René Santer, Jun Oh, Stefan Kluge, Lisa Oestereich, Kersten Peldschus, Daniela Indenbirken, Jiabin Huang, Adam Grundhoff, Martin Aepfelbacher, Johannes K.‐M. Knobloch, Marc Lütgehetmann, Nicole Fischer	16
7	Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency 2020 ·Molecular Genetics and Metabolism Reports ·(unknown), Florian Brinkert, Desirée E.C. Smith, Holger Prokisch, Maja Hempel, René Santer	4
8	A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay 2018 ·Neurogenetics ·Jessika Johannsen, Fanny Kortüm, Georg Rosenberger, (unknown), Markus Schirmer, Jonas Denecke, René Santer	18
9	Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature 2016 ·Journal of Pediatric Endocrinology and Metabolism ·(unknown), Vladimir Sarnavka, (unknown), Mario Ćuk, Danijela Petković Ramadža, Ksenija Fumić, Vesna Kuŝec, René Santer, Ivo Barić	9
10	Nectin-4 Mutations Causing Ectodermal Dysplasia with Syndactyly Perturb the Rac1 Pathway and the Kinetics of Adherens Junction Formation 2014 ·Journal of Investigative Dermatology ·Paola Fortugno, Emmanuelle Josselin, Konstantinos Tsiakas, Emanuele Agolini, Gianluca Cestra, Massimo Teson, René Santer, Daniele Castiglia, Giuseppe Novelli, Bruno Dallapiccola, Ingo Kurth, Marc Lopez, Giovanna Zambruno, Francesco Brancati	27
11	Outcome of Patients with Classical Infantile Pompe Disease Receiving Enzyme Replacement Therapy in Germany 2014 ·JIMD Reports ·Andreas Hahn, (unknown), Nesrin Karabul, (unknown), Dorle Schmidt, (unknown), Claudia M. Haase, Martina Baethmann, Julia B. Hennermann, Martin Smitka, René Santer, Nicole Muschol, (unknown), Thorsten Marquardt, Martina Huemer, Charlotte Thiels, Marianne Rohrbach, (unknown), Eugen Mengel	47
12	Dried blood spots in the diagnosis of lysosomal storage disorders—Possibilities for newborn screening and high-risk population screening 2011 ·Clinical Biochemistry ·Zoltán Lukács, (unknown), (unknown), (unknown), Eugen Mengel, M. L. Beck, Marcus Deschauer, F. Hanisch, René Santer	8
13	Neonatal cholestasis and glucose‐6‐P‐dehydrogenase deficiency 2010 ·Pediatric Blood & Cancer ·Uwe Kordes, Andréa Richter, René Santer, Hansjörg Schäfer, Dominique Singer, Josef Sonntag, Ulrike Steuerwald, Reinhard Schneppenheim, Gritta Janka	7
14	Tandem Mass Spectrometry Screening for Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: The Value of Second-Tier Enzyme Testing 2010 ·The Journal of Pediatrics ·Ute Spiekerkoetter, (unknown), Martina Mueller, Frank ter Veld, (unknown), René Santer, Zoltán Lukács	26
15	Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion 2008 ·Nephrology Dialysis Transplantation ·Joaquim Calado, Yves Sznajer, Daniel L. Metzger, Ana Rita, Marie C. Hogan, Antonios Kattamis, (unknown), Velibor Tasić, Johann Greil, Florian Brinkert, Markus J. Kemper, René Santer	78
16	The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe 2005 ·Human Mutation ·René Santer, Johannes Rischewski, (unknown), (unknown), Sonja Schneppenheim, K Baerlocher, Alfried Kohlschütter, Ania C. Muntau, Hans‐Georg Posselt, Beat Steinmann, Reinhard Schneppenheim	46
17	Molecular Analysis of the SGLT2 Gene in Patients with Renal Glucosuria 2003 ·Journal of the American Society of Nephrology ·René Santer, Martina Kinner, C.L. Lassen, Reinhard Schneppenheim, Paul Eggert, Martin Bald, Johannes Brodehl, Markus Daschner, J. H. H. Ehrich, (unknown), S. Li Volti, Thomas J. Neuhaus, Flemming Skovby, Peter G.F. Swift, Jürgen Schaub, Dan A. Klærke	228
18	Intestinal glucose transport: Evidence for a membrane traffic–based pathway in humans 2003 ·Gastroenterology ·René Santer, Georg Hillebrand, Beat Steinmann, Jürgen Schaub	48
19	MLYCD mutation analysis: Evidence for protein mistargeting as a cause of MLYCD deficiency 2003 ·Human Mutation ·(unknown), René Santer, Antònia Ribes, Frances Dougherty, Niolette I. McGill, David R. Thorburn, David Fitzpatrick	36
20	Molecular analysis in glycogen storage disease 1non-A: DHPLC detection of the highly prevalent exon 8 mutations of theG6PT1 gene in German patients 2000 ·Human Mutation ·René Santer, Johannes Rischewski, (unknown), Martina Kinner, U. Wendel, J. Schaub, Reinhard Schneppenheim	23

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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