Luisa Bonafé

7.7k citations

97 papers · 3.5k indexed · 1 hit paper · h-index 36

Impact in

Clinical Biochemistry top 0.5%
- Metabolism and Genetic Disorders
Genetics top 1%
- Connective tissue disorders research

Papers in

Clinical Biochemistry 25
- Metabolism and Genetic Disorders 25
Genetics 45
- Connective tissue disorders research 36

Co-authors: Andrea Superti‐Furga Nenad Blau Beat Thöny Sheila Unger Diana Ballhausen Belinda Campos‐Xavier Andreas Zankl Ravi Savarirayan
Journals: Molecular Genetics and Metabolism (6 papers)The American Journal of Human Genetics (5 papers)Journal of Inherited Metabolic Disease (5 papers)European Journal of Pediatrics (4 papers)Clinical Genetics (4 papers)
Partner nations: Switzerland Germany Italy

In The Last Decade

Luisa Bonafé

95 papers receiving 3.5k citations

Hit Papers

align trajectories log scale

Nosology and classification of genetic skeletal disorders: 2015 revision 2015 · 367 citations

Peers

Countries citing papers authored by Luisa Bonafé

Since Specialization

Citations

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

Fields of papers citing papers by Luisa Bonafé

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network

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

All Works

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20 of 20 papers shown

#	Work
1	Identification of potential non-invasive biomarkers in diastrophic dysplasia Bone ·Chiara Paganini, John D. Adler, О.Ю. Юрченко, Denilson José Marcolino de Aguiar, Lê Minh Hải, Angela L. Duker, 政司上村, John Grocott, Brian Johnstone, Carlos R. Ferreira, 舒纯军, Riccardo Albertini, Antonella Forlino, Luisa Bonafé, Belinda Campos‐Xavier, Andrea Superti‐Furga, Andreas Zankl, Antonio Rossi, Michael B. Bober	2023	0
2	Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management Clinical Nutrition ·Christel Tran, Luisa Bonafé, Jean‐Marc Nuoffer, 能文関根, Mette M. Berger	2017	6
3	Current Care and Investigational Therapies in Achondroplasia Current Osteoporosis Reports ·Sheila Unger, Luisa Bonafé, Elvire Gouze	2017	50
4	Nosology and classification of genetic skeletal disorders: 2015 revision American Journal of Medical Genetics Part A ·Luisa Bonafé, Valérie Cormier‐Daire, Christine M Hall, Ralph Lachman, Geert Mortier, Stefan Mundlos, Gen Nishimura, Luca Sangiorgi, Ravi Savarirayan, David Sillence, Jürgen W. Spranger, Andrea Superti‐Furga, Matthew L. Warman, Sheila Unger Hit paper breakdown →	2015	367
5	NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina American Journal of Medical Genetics Part A ·Nuria García Segarra, Diana Ballhausen, Heather Crawford, Matthieu Perreau, Belinda Campos‐Xavier, Karin van Spaendonck‐Zwarts, Cees Vermeer, Lucía D. Miján Serrano, Pierre‐Yves Zambelli, Brian J. Stevenson, Béryl Royer‐Bertrand, Carlo Rivolta, Fabio Candotti, Sheila Unger, Francis L. Munier, Andrea Superti‐Furga, Luisa Bonafé	2015	49
6	Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta Orphanet Journal of Rare Diseases ·Uschi Lindert, Marius Kraenzlin, Belinda Campos‐Xavier, Matthias R. Baumgartner, Luisa Bonafé, Cecilia Giunta, Marianne Rohrbach	2015	6
7	[b]Erreurs[/b] innées du métabolisme : transition enfant-adulte Revue Médicale Suisse ·Christel Tran, Frédéric Barbey, Luisa Bonafé, Nelly Pitteloud, Ilse Kern	2015	1
8	MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type American Journal of Medical Genetics Part A ·Luisa Bonafé, Jinlong Liang, Maria W. Górna, Qingyan Zhang, Russia Hà-Vinh Leuchter, Belinda Campos‐Xavier, Sheila Unger, J. Beckmann, Antony Le Béchec, Brian J. Stevenson, A Giedion, Xuanzhu Liu, Giulio Superti‐Furga, Wei Wang, 健志小林, Andrea Superti‐Furga	2014	12
9	Multiple Epiphyseal Dysplasia, Recessive IRIS ·Luisa Bonafé, García Cabrera, Diana Ballhausen, Andrea Superti‐Furga	2014	6
10	Atelosteogenesis Type 2 IRIS ·Luisa Bonafé, García Cabrera, Diana Ballhausen, Andrea Superti‐Furga	2014	1
11	Positive effects of an angiotensin II type 1 receptor antagonist in Camurati–Engelmann disease: A single case observation American Journal of Medical Genetics Part A ·Pelin Özlem Şimşek‐Kiper, Esra Dikoglu, Belinda Campos‐Xavier, Gülen Eda Ütine, Luisa Bonafé, Sheila Unger, Koray Boduroğlu, Andrea Superti‐Furga	2014	19
12	Persistent pulmonary arterial hypertension in the newborn (PPHN): A frequent manifestation of TMEM70 defective patients Molecular Genetics and Metabolism ·Michela Catteruccia, Daniela Verrigni, Diego Martinelli, Alessandra Torraco, J.H.P. Bruinsma, Luisa Bonafé, Adele D’Amico, Maria Alice Donati, Rachele Adorisio, Filippo M. Santorelli, Rosalba Carrozzo, Enrico Bertini, Carlo Dionisi‐Vici	2014	21
13	Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP The American Journal of Human Genetics ·Lisenka E.L.M. Vissers, Ekkehart Lausch, Sheila Unger, Belinda Campos‐Xavier, Christian Gilissen, Antonio Rossi, Marisol del Rosario, Hanka Venselaar, Ute Knoll, Sheela Nampoothiri, Mohandas Nair, Jürgen W. Spranger, Han G. Brunner, Luisa Bonafé, Joris A. Veltman, Bernhard Zabel, Andrea Superti‐Furga	2011	66
14	Circulating matrix γ‐carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndrome Journal of Thrombosis and Haemostasis ·Vasileios Nevras, Karin Y. van Spaendonck‐Zwarts, Luisa Bonafé, T. Takenaka, Lars A. Rödiger, Frederik G. Dikkers, A. J. van Essen, Andrea Superti‐Furga, A Peter, Cees Vermeer, Leon J. Schurgers, Gozewijn D. Laverman	2011	25
15	Lethal Skeletal Dysplasia in Mice and Humans Lacking the Golgin GMAP-210 New England Journal of Medicine ·Patrick Smits, Andrew D. Bolton, Vincent Funari, Ángel Valés-Vázquez, Mikhail V. Vinogradov, Lei Lü, Danielle K. Manning, Noelle D. Dwyer, Jennifer L. Moran, Caifa You, Barry Merriman, Stanley F. Nelson, Luisa Bonafé, Andrea Superti‐Furga, Shiro Ikegawa, Deborah Krakow, Daniel H. Cohn, Tomas Kirchhausen, Matthew L. Warman, David R. Beier	2010	106
16	Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene European Journal of Pediatrics ·Faysal Gök, T. Takenaka, Yasemin Alanay, Bülent Hacıhamdioğlu, Murat Kocaoğlu, Luisa Bonafé, Seza Özen	2009	17
17	Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome American Journal of Medical Genetics Part A ·Andreas Zankl, John L. Emmons, Luisa Bonafé, Eugen Boltshauser, Andrea Superti‐Furga	2004	15
18	Spondyloperipheral dysplasia is caused by truncating mutations in the C‐propeptide of COL2A1 American Journal of Medical Genetics Part A ·Andreas Zankl, Bernhard Zabel, Katja Hilbert, G. Wildhardt, W. Kuntze, Belinda Campos‐Xavier, Russia Hà-Vinh Leuchter, Luisa Bonafé, Jürgen W. Spranger, Andrea Superti‐Furga	2004	29
19	Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2 American Journal of Medical Genetics Part A ·Russia Hà-Vinh Leuchter, Yasemin Alanay, Ruud A. Bank, Belinda Campos‐Xavier, Andreas Zankl, Andrea Superti‐Furga, Luisa Bonafé	2004	130
20	Evaluation of Urinary Acylglycines by Electrospray Tandem Mass Spectrometry in Mitochondrial Energy Metabolism Defects and Organic Acidurias Molecular Genetics and Metabolism ·Luisa Bonafé, Heinz Troxler, Thomas Küster, Claus W. Heizmann, Néstor Chamoles, Alberto Burlina, Nenad Blau	2000	54

About Luisa Bonafé

Luisa Bonafé is a scholar working on Clinical Biochemistry, Genetics, Biochemistry, Cancer Research and Rheumatology, having authored 97 papers that have together received 3.5k indexed citations. Recurring topics across this work include Connective tissue disorders research (36 papers), Metabolism and Genetic Disorders (25 papers), Mitochondrial Function and Pathology (15 papers), Protease and Inhibitor Mechanisms (8 papers), Amino Acid Enzymes and Metabolism (7 papers), Biochemical and Molecular Research (7 papers), RNA modifications and cancer (7 papers) and Neonatal Health and Biochemistry (6 papers). The work is most often cited by research in Clinical Biochemistry (723 citations), Genetics (1.4k citations), Rheumatology (502 citations), Molecular Biology (1.8k citations) and Cell Biology (378 citations). Luisa Bonafé has collaborated with scholars based in Switzerland, Germany and Italy. Frequent co-authors include Andrea Superti‐Furga, Nenad Blau, Beat Thöny, Sheila Unger, Diana Ballhausen, Belinda Campos‐Xavier, Andreas Zankl, Ravi Savarirayan, Gen Nishimura and Jürgen W. Spranger. Their work appears in journals such as Molecular Genetics and Metabolism, The American Journal of Human Genetics, Journal of Inherited Metabolic Disease, European Journal of Pediatrics and Clinical 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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