Sofie Symoens

6.6k citations

99 papers · 5.1k · 2 hit papers · h-index 35

Impact in

Genetics top 0.5%
- Connective tissue disorders research
- Genomics and Rare Diseases
Cell Biology top 2%
- Proteoglycans and glycosaminoglycans research

Papers in

Genetics 87
- Connective tissue disorders research 77
- Genomics and Rare Diseases 8
- Dermatological and Skeletal Disorders 5
Cell Biology 7
- Proteoglycans and glycosaminoglycans research 5

Co-authors: Fransiska Malfait (52 shared papers)Anne De Paepe (35 shared papers)Paul J. Coucke (42 shared papers)Delfien Syx (26 shared papers)Bert Louis Callewaert (16 shared papers)Trinh Hermanns‐Lê (6 shared papers)Julie F A De Backer (6 shared papers)Andy Willaert (12 shared papers)
Journals: Human Mutation (12 papers)The American Journal of Human Genetics (6 papers)Journal of Bone and Mineral Research (5 papers)Orphanet Journal of Rare Diseases (5 papers)Matrix Biology (4 papers)
Partner nations: Belgium United States Netherlands

In The Last Decade

Sofie Symoens

97 papers receiving 4.9k citations

Sofie Symoens's Hit Papers

align trajectories log scale

Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor 2006 · 1.3k 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.

2006 New England Journal of Medicine
2006 Human Mutation

Peers

Countries citing papers authored by Sofie Symoens

Since Specialization

Citations

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

Fields of papers citing papers by Sofie Symoens

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside Sofie Symoens, 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 Sofie Symoens Line = papers co-authored together Sofie Symoens 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 99 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor New England Journal of Medicine ·Bart Loeys, Ulrike Schwarze, Tammy M. Holm, Bert Louis Callewaert, George H. Thomas, Hariyadarshi Pannu, Julie F A De Backer, Gretchen L. Oswald Hit paper breakdown →	2006	1274
2	Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans Human Mutation ·Joan C. Marini, Antonella Forlino, Wayne A. Cabral, Aileen M. Barnes, James D. San Antonio, Sarah A. Milgrom, James C. Hyland, Jarmo Körkkö Hit paper breakdown →	2006	613
3	Tryptophan fluorescence study of the interaction of penetratin peptides with model membranes European Journal of Biochemistry ·Bart Christiaens, Sofie Symoens, Stefan Vanderheyden, Yves Engelborghs, Alain Joliot, Alain Prochiantz, Joel S. Vandekerckhove, Maryvonne Rosseneu	2002	162
4	Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome Journal of Bone and Mineral Research ·Brian Kelley, Fransiska Malfait, Luisa Bonafé, Dustin Baldridge, Erica P. Homan, Sofie Symoens, Andy Willaert, Nursel H Elcioglu	2010	158
5	Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria Human Mutation ·Sofie Symoens, Delfien Syx, Fransiska Malfait, Bert Louis Callewaert, Julie F A De Backer, Olivier M. Vanakker, Paul J. Coucke, Anne De Paepe	2012	137
6	Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood Human Mutation ·Fransiska Malfait, Sofie Symoens, Julie F A De Backer, Trinh Hermanns‐Lê, Natzi Sakalihasan, Charles Maurice Lapiere, Paul J. Coucke, Anne De Paepe	2007	126
7	The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients Human Mutation ·Fransiska Malfait, Paul J. Coucke, Sofie Symoens, Bart Loeys, Lieve Nuytinck, Anne De Paepe	2004	112
8	EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta European Journal of Human Genetics ·Fleur S van Dijk, Peter H. Byers, Raymond W. M. Dalgleish, Fransiska Malfait, Alessandra Maugeri, Marianne Rohrbach, Sofie Symoens, Erik A. Sistermans	2011	109
9	Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder The American Journal of Human Genetics ·Fransiska Malfait, Ariana Kariminejad, Tim Van Damme, Caroline Gauche, Delfien Syx, Faten Merhi, Sandrine Gulberti, Sofie Symoens	2013	109
10	Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans Orphanet Journal of Rare Diseases ·Sofie Symoens, Fransiska Malfait, Sanne D’hondt, Bert Louis Callewaert, Annelies Dheedene, Wouter Steyaert, Hans Peter Bächinger, Anne De Paepe	2013	104
11	Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene Human Mutation ·Fransiska Malfait, Delfien Syx, Philip Vlummens, Sofie Symoens, Sheela Nampoothiri, Trinh Hermanns‐Lê, Lut Van Laer, Anne De Paepe	2010	100
12	Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa The American Journal of Human Genetics ·Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed, Sergio Guerrero‐Castillo, Peter Freisinger, Brecht Guillemyn, Ariana Kariminejad, Daisy Dalloyaux	2017	91
13	Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation Journal of Medical Genetics ·Andy Willaert, Fransiska Malfait, Sofie Symoens, Kris Gevaert, Hülya Kayserili, André Mégarbané, Geert R. Mortier, JG Leroy	2008	78
14	Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies Proceedings of the National Academy of Sciences ·Charlotte Gistelinck, Ronald Young Kwon, Fransiska Malfait, Sofie Symoens, Matthew P. Harris, Katrin Henke, Michael Brent Hawkins, Shannon Fisher	2018	78
15	Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome Orphanet Journal of Rare Diseases ·Fransiska Malfait, Sofie Symoens, Nathalie Goemans, Yolanda Gyftodimou, Eva Holmberg, Vanesa López‐González, Geert R. Mortier, Sheela Nampoothiri	2013	77
16	Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers-Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis Human Mutation ·Delfien Syx, Tim Van Damme, Sofie Symoens, Merel C. Maiburg, Ingrid M.B.H. van de Laar, Jenny Morton, Mohnish Suri, Miguel Del Campo	2015	72
17	Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa Human Mutation ·Bert Louis Callewaert, Chi-Ting Su, Tim Van Damme, Philip Vlummens, Fransiska Malfait, Olivier M. Vanakker, Bianca Schulz, Meghan Mac Neal	2012	67
18	Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa The American Journal of Human Genetics ·Björn Fischer‐Zirnsak, Nathalie Escande‐Beillard, Jaya Ganesh, Yu Xuan Tan, Mohammed Al-Bughaili, Angela E. Lin, Inderneel Sahai, Paulina Bahena	2015	65
19	Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome Journal of Bone and Mineral Research ·Charlotte Gistelinck, P. Eckhard Witten, Ann Huysseune, Sofie Symoens, Fransiska Malfait, Daria Larionova, Manuel Dierick, Luc Van Hoorebeke	2016	64
20	Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model Matrix Biology ·Sanne D’hondt, Brecht Guillemyn, Delfien Syx, Sofie Symoens, Riet Maria De Rycke, Leen Vanhoutte, Wendy Toussaint, Bart N. Lambrecht	2018	64

About Sofie Symoens

Sofie Symoens is a scholar working on Genetics, Cell Biology, Reproductive Medicine, Molecular Biology and Pediatrics, Perinatology and Child Health, having authored 99 papers that have together received 5.1k indexed citations. Recurring topics across this work include Connective tissue disorders research (77 papers), Genomics and Rare Diseases (8 papers), Dermatological and Skeletal Disorders (5 papers), Proteoglycans and glycosaminoglycans research (5 papers), Prenatal Screening and Diagnostics (3 papers), Lipid Membrane Structure and Behavior (2 papers), RNA Interference and Gene Delivery (2 papers) and ATP Synthase and ATPases Research (2 papers). The work is most often cited by research in Genetics (3.2k citations), Cell Biology (409 citations), Orthopedics and Sports Medicine (159 citations), Pulmonary and Respiratory Medicine (484 citations) and Clinical Biochemistry (63 citations). Sofie Symoens has collaborated with scholars based in Belgium, United States and Netherlands. Frequent co-authors include Fransiska Malfait, Anne De Paepe, Paul J. Coucke, Delfien Syx, Bert Louis Callewaert, Trinh Hermanns‐Lê, Julie F A De Backer, Andy Willaert, Sheela Nampoothiri and Bart Loeys. Their work appears in journals such as Human Mutation, The American Journal of Human Genetics, Journal of Bone and Mineral Research, Orphanet Journal of Rare Diseases and Matrix Biology.

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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In The Last Decade

Sofie Symoens

Sofie Symoens's Hit Papers

Peers

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Fields of papers citing papers by Sofie Symoens

All Works

About Sofie Symoens

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