Beat Steinmann

10.8k citations

145 papers · 7.4k · 1 hit paper · h-index 48

Impact in

Genetics top 0.2%
- Connective tissue disorders research
- Dermatological and Skeletal Disorders
Clinical Biochemistry top 0.5%
- Metabolism and Genetic Disorders

Papers in

Genetics 78
- Connective tissue disorders research 74
- Dermatological and Skeletal Disorders 31
Rheumatology 33
- Dupuytren's Contracture and Treatments 9
- Bone and Dental Protein Studies 8

Co-authors: RICHARD J. WENSTRUP (3 shared papers)Anne De Paepe (5 shared papers)Peter Beighton (2 shared papers)Petros Tsipouras (2 shared papers)Peter M. Royce (6 shared papers)Andrea Superti‐Furga (24 shared papers)Cecilia Giunta (21 shared papers)Michael Raghunath (13 shared papers)
Journals: Human Mutation (8 papers)Molecular Genetics and Metabolism (6 papers)Pediatric Research (6 papers)European Journal of Pediatrics (6 papers)Human Genetics (6 papers)
Partner nations: Switzerland United States Germany

In The Last Decade

Beat Steinmann

143 papers receiving 7.0k citations

Beat Steinmann's Hit Papers

align trajectories log scale

Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997 1998 · 1.4k citations

What are hit papers?

Paper score: A paper's citations measured against the top-1% bar of its own field and year: the square root of citations ÷ bar, so 1 means right at the bar and 2 means four times its citations. The bar blends the citation counts that enter the top 1% of the paper's subfields in its year (weighted 89.5%), of those subfields over all years (0.5%) and of its year across all fields (10%); a subfield and year with fewer than 400 papers takes its year's bar. Papers from 2026 are not scored yet: in an unfinished year, when a paper appeared matters more than how it is cited.

Hit paper: A paper cited at least 1.5× the top-1% bar of its field and year: a paper score of at least √1.5.

1998 American Journal of Medical Genetics

Peers

Countries citing papers authored by Beat Steinmann

Since Specialization

Citations

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

Fields of papers citing papers by Beat Steinmann

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside Beat Steinmann, 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 Beat Steinmann Line = papers co-authored together Beat Steinmann links everyone, so they are left out of the graph.

All Works

Sort: Min cites: Since: Top N: Style:

20 of 20 papers shown

Showing the 20 most-cited of 145 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997 American Journal of Medical Genetics ·Peter Beighton, Anne De Paepe, Beat Steinmann, Petros Tsipouras, RICHARD J. WENSTRUP Hit paper breakdown →	1998	1375
2	Connective tissue and its heritable disorders : molecular, genetic, and medical aspects Peter M. Royce, Beat Steinmann	1993	406
3	Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome Nature Genetics ·René Santer, Reinhard Schneppenheim, Anja Dombrowski, Hermann Götze, Beat Steinmann, Jürgen Schaub	1997	264
4	Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene Nature Genetics ·Andrea Superti‐Furga, Johanna Hästbacka, William Ross Wilcox, Daniel H. Cohn, Hans J. van der Harten, Antonio Rossi, Nenad Blau, David L. Rimoin, Beat Steinmann, Eric S. Lander, RICHARD GITZELMANN	1996	199
5	Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome The American Journal of Human Genetics ·Johannes Adalbert Mayr, Tobias B. Haack, Elisabeth Graf, Franz Zimmermann, T Wieland, Birgit Haberberger, Andrea Superti‐Furga, Janbernd Kirschner, Beat Steinmann, Matthias R. Baumgartner, Isabella Moroni, Eleonora Lamantea, Massimo Zeviani, Richard J. Rodenburg, Jan A.M. Smeitink, Tim M. Strom, Thomas Meitinger, Wolfgang Sperl, Holger Prokisch	2012	181
6	Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13 The American Journal of Human Genetics ·Cecilia Giunta, Nursel H Elcioglu, Beate Albrecht, Georg F. Eich, Céline Chambaz, Andreas Janecke, Heather N. Yeowell, MaryAnn Weis, David R. Eyre, MARIUS E. KRAENZLIN, Beat Steinmann	2008	171
7	The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome Human Genetics ·René Santer, Sebastian Groth, Martina Kinner, Anja Dombrowski, Gerard T. Berry, Johannes Brodehl, James V. Leonard, SHIMON W. MOSES, Svante Norgren, Flemming Skovby, Reinhard Schneppenheim, Beat Steinmann, Jürgen Schaub	2001	139
8	Delayed Triple Helix Formation of Mutant Collagen from Patient with Osteogenesis Imperfecta Journal of Molecular Biology ·Michael Raghunath, Peter Brückner, Beat Steinmann	1994	125
9	Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2 Nature Genetics ·Martin R. Pollak, Yah‐Huei Wu Chou, James J. Cerda, Beat Steinmann, Bert N. La Du, J G Seidman, Christine E. Seidman	1993	121
10	Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome The American Journal of Human Genetics ·Munis Dündar, Thomas H Müller, Qi Zhang, Jing Pan, Beat Steinmann, Julia Vodopiutz, Robert W. Gruber, Tohru Sonoda, Birgit Krabichler, Gerd Utermann, Jacques Baenziger, Lijuan Zhang, Andreas Janecke	2009	119
11	Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants American Journal of Physiology-Cell Physiology ·Gary Hin‐Fai Yam, Nils U. Bosshard, Christian Zuber, Beat Steinmann, Jürgen Roth	2006	109
12	Ten novel FBN2 mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype Human Mutation ·Prateek Gupta, Elizabeth A. Putnam, Sonya G. Carmical, Ilkka Kaitila, Beat Steinmann, Anne H. Child, Cesare Danesino, Kay Metcalfe, Susan A. Berry, Emily Chen, Catherine Vincent Delorme, Meow‐Keong Thong, Lesley C. Adès, Dianna M. Milewicz	2001	108
13	COL5A1 Haploinsufficiency Is a Common Molecular Mechanism Underlying the Classical Form of EDS The American Journal of Human Genetics ·RICHARD J. WENSTRUP, Jane B. Florer, Marcia C. Willing, Cecilia Giunta, Beat Steinmann, Felix Young, Miki Susic, William G. Cole	2000	105
14	Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers–Danlos syndrome Proceedings of the National Academy of Sciences ·Jeeyon Jeong, Joel Michael Walker, Fudi Wang, J. Genevieve Park, Amy E. Palmer, Cecilia Giunta, Marianne Rohrbach, Beat Steinmann, David J. Eide	2012	101
15	Cardiac and Vascular Hypertrophy in Fabry Disease Arteriosclerosis Thrombosis and Vascular Biology ·Frédéric Barbey, Noureddine Brakch, Aleš Linhart, Nathalie Rosenblatt‐Velin, Xavier Jeanrenaud, Salah D. Qanadli, Beat Steinmann, Michel Burnier, Tomáš Paleček, Jan Bultas, Daniel Hayoz	2006	96
16	A chondrodysplasia family produced by mutations in thediastrophic dysplasia sulfate transporter gene: Genotype/phenotype correlations American Journal of Medical Genetics ·Andrea Superti‐Furga, Antonio Rossi, Beat Steinmann, RICHARD GITZELMANN	1996	94
17	A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers–Danlos syndrome type VI Nature Genetics ·James C. Hyland, Leena Ala‐Kokko, Peter L. Royce, Beat Steinmann, Kari I. Kivirikko, Raili Myllylä	1992	91
18	Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal The Journal of Pediatrics ·Markus Andreas Landolt, Jean‐Marc Nuoffer, Beat Steinmann, Andrea Superti‐Furga	2002	89
19	Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV Human Genetics ·Andrea Superti‐Furga, Beat Steinmann, Francesco Ramirez, Peter H. Byers	1989	86
20	Identification and in silico analyses of novelTGFBR1 andTGFBR2 mutations in Marfan syndrome-related disorders Human Mutation ·Gábor Mátyás, Eliane Arnold, Thierry Pierre Carrel, Daniela Baumgartner, Cathérine Boileau, Wolfgang Berger, Beat Steinmann	2006	84

About Beat Steinmann

Beat Steinmann is a scholar working on Genetics, Rheumatology, Clinical Biochemistry, Cell Biology and Molecular Biology, having authored 145 papers that have together received 7.4k indexed citations. Recurring topics across this work include Connective tissue disorders research (74 papers), Dermatological and Skeletal Disorders (31 papers), Metabolism and Genetic Disorders (20 papers), Dupuytren's Contracture and Treatments (9 papers), Skin and Cellular Biology Research (9 papers), Proteoglycans and glycosaminoglycans research (8 papers), Diet, Metabolism, and Disease (8 papers) and Bone and Dental Protein Studies (8 papers). The work is most often cited by research in Genetics (3.6k citations), Clinical Biochemistry (575 citations), Rheumatology (1.2k citations), Cell Biology (864 citations) and Immunology and Allergy (273 citations). Beat Steinmann has collaborated with scholars based in Switzerland, United States and Germany. Frequent co-authors include RICHARD J. WENSTRUP, Anne De Paepe, Peter Beighton, Petros Tsipouras, Peter M. Royce, Andrea Superti‐Furga, Cecilia Giunta, Michael Raghunath, René Santer and RICHARD GITZELMANN. Their work appears in journals such as Human Mutation, Molecular Genetics and Metabolism, Pediatric Research, European Journal of Pediatrics and Human 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.

Explore authors with similar magnitude of impact

Beat Steinmann

Impact in

Papers in i

In The Last Decade

Beat Steinmann

Beat Steinmann's Hit Papers

Peers

Countries citing papers authored by Beat Steinmann

Fields of papers citing papers by Beat Steinmann

All Works

About Beat Steinmann

Explore authors with similar magnitude of impact

Papers in