Jaak Jaeken

13.6k citations

243 papers · 8.3k indexed · h-index 51

Impact in

Clinical Biochemistry top 0.5%
- Metabolism and Genetic Disorders
Molecular Biology top 0.5%
- Glycosylation and Glycoproteins Research
- Biochemical and Molecular Research

Papers in

Clinical Biochemistry 33
- Metabolism and Genetic Disorders 33
Molecular Biology 187
- Glycosylation and Glycoproteins Research 148
- Biochemical and Molecular Research 19

Co-authors: Gert Matthijs Hubert Carchon Emile Van Schaftingen Els Schollen Rita Barone Helena Stibler Romain Péanne Harry Schachter
Journals: Journal of Inherited Metabolic Disease (31 papers)Orphanet Journal of Rare Diseases (15 papers)European Journal of Human Genetics (12 papers)Molecular Genetics and Metabolism (10 papers)Pediatric Research (7 papers)
Partner nations: Belgium United States Italy

In The Last Decade

Jaak Jaeken

234 papers receiving 8.1k citations

Peers

Countries citing papers authored by Jaak Jaeken

Since Specialization

Citations

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

Fields of papers citing papers by Jaak Jaeken

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

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

All Works

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

20 of 20 papers shown

#	Work
1	A Community-Based Participatory Framework to Co-Develop Patient Education Materials (PEMs) for Rare Diseases: A Model Transferable across Diseases International Journal of Environmental Research and Public Health ·Marta Falcão, Mariateresa Allocca, Ana Rodrigues, Pedro Granjo, Rita Francisco, Carlota Pascoal, Maria Grazia Rossi, Dorinda Marques‐da‐Silva, Salvador C. M. Magrinho, Jaak Jaeken, Larisa Aragon Castro, Cláudia de Freitas, Paula A. Videira, Luísa de Andrés-Aguayo, Vanessa dos Reis Ferreira	2023	7
2	Stakeholders’ views on drug development: the congenital disorders of glycosylation community perspective Orphanet Journal of Rare Diseases ·Maria Monticelli, Rita Francisco, Sandra Brasil, Dorinda Marques‐da‐Silva, Tatiana Rijoff, Carlota Pascoal, Jaak Jaeken, Paula A. Videira, Vanessa dos Reis Ferreira	2022	7
3	Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives Ana Piedade, Rita Francisco, Jaak Jaeken, Peymaneh Sarkhail, Sandra Brasil, Carlos R. Ferreira, Tatiana Rijoff, Carlota Pascoal, Alexandre Gil, Ana Beatriz Lourenço, Marta Abreu, Mafalda Gomes, Paula A. Videira, Vanessa dos Reis Ferreira	2022	14
4	Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylation Cellular and Molecular Life Sciences ·Laura Di Patria, Giosuè Annibalini, Amelia Morrone, Lorenzo Ferri, Roberta Saltarelli, Luca Galluzzi, Aurora Diotallevi, Matteo Bocconcelli, Maria Alice Donati, Rita Barone, Renzo Guerrini, Jaak Jaeken, Vilberto Stocchi, Elena Barbieri	2022	8
5	Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1‐CDG) JIMD Reports ·Ruqaiah Altassan, Dimpna C. Albert, Mohammad Al-Owain, Zohair Al‐Halees, Jaak Jaeken, Éva Morava	2022	3
6	Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype Proceedings of the National Academy of Sciences ·Eline Blommaert, Romain Péanne, Н. А. Черепанова, Daisy Rymen, Frederik Staels, Jaak Jaeken, Valérie Race, Liesbeth Keldermans, Erika Souche, Anniek Corveleyn, Rebecca Sparkes, Kaustuv Bhattacharya, Christine Devalck, Rik Schrijvers, François Foulquier, Reid Gilmore, Gert Matthijs	2019	61
7	Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients JIMD Reports ·Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M. Enns, Carolyn Ellaway, Shanti Balasubramaniam, Pascale de Lonlay, David Coman, Saadet Mercimek‐Andrews, Peter Witters, Éva Morava	2019	10
8	Recognizable phenotypes in CDG Journal of Inherited Metabolic Disease ·Carlos R. Ferreira, Ruqaia Altassan, Dorinda Marques‐da‐Silva, Rita Francisco, Jaak Jaeken, Éva Morava	2018	65
9	Exuberant myopathic phenotype in a DPAGT1-CDG patient Journal of Inherited Metabolic Disease ·Dulce Quelhas, Miguel Oliveira Santos, Jaak Jaeken, Gert Matthijs, L. Lacerda, Elisabete Martins	2016	0
10	Childhood Pompe disease: clinical spectrum and genotype in 31 patients Orphanet Journal of Rare Diseases ·Carine I. van Capelle, Jan C. van der Meijden, Johanna M. P. van den Hout, Jaak Jaeken, Martina Baethmann, Thomas Voit, Marian A. Kroos, Terry G. J. Derks, M. Estela Rubio‐Gozalbo, Michèl A.A.P. Willemsen, Robin Lachmann, Eugen Mengel, Helen Michelakakis, J. C. de Jongste, Arnold Reuser, Ans T. van der Ploeg	2016	47
11	GNAS Defects Identified by Stimulatory G Protein α-Subunit Signalling Studies in Platelets The Journal of Clinical Endocrinology & Metabolism ·Kathleen Freson, Benedetta Izzi, Veerle Labarque, Monique Van Helvoirt, Chantal Thys, Christine Wittevrongel, Marie Bex, Roger Bouillon, Nathalie Godefroid, Willem Proesmans, Francis de Zegher, Jaak Jaeken, Chris Van Geet	2008	30
12	Possible involvement of a gamma-hydroxybutyric acid receptor in startle disease Acta Paediatrica ·Michel Berthier, D Bonneau, J-M Desbordes, J. P. Chevrel, Denis Oriot, Jaak Jaeken, H Laborit	2008	0
13	Congenital disorders of glycosylation: a booming chapter of pediatrics Current Opinion in Pediatrics ·Jaak Jaeken, Hubert Carchon	2004	70
14	Congenital Disorders of Glycosylation: A Review Pediatric Research ·Stephanie Grünewald, Gert Matthijs, Jaak Jaeken	2002	152
15	MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If Journal of Clinical Investigation ·Barbara Schenk, Timo Imbach, Christian Frank, Claudia E. Grubenmann, Gerald V. Raymond, Haggit Hurvitz, Annick Raas‐Rotschild, Anthony Luder, Jaak Jaeken, Eric G. Berger, Gert Matthijs, Thierry Hennet, Markus Aebi	2001	33
16	MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If Journal of Clinical Investigation ·Barbara Schenk, Timo Imbach, Christian Frank, Claudia E. Grubenmann, Gerald V. Raymond, Haggit Hurvitz, Annick Raas‐Rotschild, Anthony Luder, Jaak Jaeken, Eric G. Berger, Gert Matthijs, Thierry Hennet, Markus Aebi	2001	104
17	Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis Glycobiology ·Yibin Wang, Jenny Tan, Mark Sutton‐Smith, Domenico Ditto, Maria Panico, Robert M. Campbell, Nissi Varki, Jeffery M. Long, Jaak Jaeken, S. Rock Levinson, Anthony Wynshaw‐Boris, Howard R. Morris, Duc‐Hau Le, Anne Dell, Harry Schachter, Jamey D. Marth	2001	111
18	Defective Glycosyltransferases are Not Good for Your Health Advances in experimental medicine and biology ·Harry Schachter, Jenny Tan, Mohan Sarkar, Betty YIP, Shihao Chen, James P. Dunn, Jaak Jaeken	1998	7
19	Exhaustive mutation analysis of the PMM2 gene in patients with the carbohydrate-deficient glycoprotein syndrome type I (CDG1 or Jaeken syndrome) and cloning of the mouse Pmm1 and Pmm2 genes. The American Journal of Human Genetics ·Gert Matthijs, Els Schollen, Jaak Jaeken, Emile Van Schaftingen, JJ Cassiman	1997	0
20	Microheterogeneity of serum glycoproteins and their liver precursors in patients with carbohydrate-deficient glycoprotein syndrome type I: Apparent deficiencies in clusterin and serum amyloid P Journal of Laboratory and Clinical Medicine ·Hugues Henry, Jean‐Daniel Tissot, Benjamin Messerli, M. Markert, Ania C. Muntau, Daniela Skladal, Wolfgang Sperl, Jaak Jaeken, Stephan Weidinger, K Heyne, C. Bachmann	1997	31

About Jaak Jaeken

Jaak Jaeken is a scholar working on Clinical Biochemistry, Molecular Biology, Immunology, Physiology and Rheumatology, having authored 243 papers that have together received 8.3k indexed citations. Recurring topics across this work include Glycosylation and Glycoproteins Research (148 papers), Carbohydrate Chemistry and Synthesis (54 papers), Lysosomal Storage Disorders Research (47 papers), Galectins and Cancer Biology (44 papers), Metabolism and Genetic Disorders (33 papers), Glycogen Storage Diseases and Myoclonus (23 papers), Biochemical and Molecular Research (19 papers) and Pancreatic function and diabetes (19 papers). The work is most often cited by research in Clinical Biochemistry (776 citations), Molecular Biology (6.4k citations), Immunology (1.8k citations), Cell Biology (1.2k citations) and Physiology (1.8k citations). Jaak Jaeken has collaborated with scholars based in Belgium, United States and Italy. Frequent co-authors include Gert Matthijs, Hubert Carchon, Emile Van Schaftingen, Els Schollen, Rita Barone, Helena Stibler, Romain Péanne, Harry Schachter, Éva Morava and Vanessa dos Reis Ferreira. Their work appears in journals such as Journal of Inherited Metabolic Disease, Orphanet Journal of Rare Diseases, European Journal of Human Genetics, Molecular Genetics and Metabolism and Pediatric Research.

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