Marleen Simon

3.2k citations

56 papers · 2.2k · 1 hit paper · h-index 29

Impact in

Genetics top 2%
- Connective tissue disorders research
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genetic Syndromes and Imprinting
- Genomic variations and chromosomal abnormalities
Developmental Biology top 5%

Papers in

Genetics 34
- Connective tissue disorders research 13
- Genetics and Neurodevelopmental Disorders 10
- Genomics and Rare Diseases 8
- Genomic variations and chromosomal abnormalities 6
Molecular Biology 27
- Epigenetics and DNA Methylation 6
- Bone Metabolism and Diseases 5
- Ubiquitin and proteasome pathways 4

Co-authors: Saskia M. Maas (1 shared paper)Jet Bliek (1 shared paper)Paulien A. Terhal (1 shared paper)Tom G.W. Letteboer (1 shared paper)Ben C.J. Hamel (1 shared paper)Marcel M. A. M. Mannens (1 shared paper)Jasper van der Smagt (1 shared paper)Hester Y. Kroes (1 shared paper)
Journals: The American Journal of Human Genetics (8 papers)Genetics in Medicine (6 papers)European Journal of Human Genetics (6 papers)American Journal of Medical Genetics Part C Seminars in Medical Genetics (2 papers)Human Mutation (2 papers)
Partner nations: Netherlands United States France

In The Last Decade

Marleen Simon

55 papers receiving 2.1k citations

Marleen Simon's Hit Papers

align trajectories log scale

Nosology of genetic skeletal disorders: 2023 revision 2023 · 189 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.

2023 American Journal of Medical Genetics Part A

Peers

Countries citing papers authored by Marleen Simon

Since Specialization

Citations

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

Fields of papers citing papers by Marleen Simon

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside Marleen Simon, 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 Marleen Simon Line = papers co-authored together Marleen Simon 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 56 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Nosology of genetic skeletal disorders: 2023 revision American Journal of Medical Genetics Part A ·Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora Romeo Bertola, Alistair Duncan Calder, Daniel H. Cohn, Valérie Cormier‐Daire Hit paper breakdown →	2023	189
2	Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype The American Journal of Human Genetics ·Jet Bliek, Paulien A. Terhal, Marie-José van den Bogaard, Saskia M. Maas, Ben C.J. Hamel, Georgette B. Salieb–Beugelaar, Marleen Simon, Tom G.W. Letteboer	2006	168
3	PLS3 Mutations in X-Linked Osteoporosis with Fractures New England Journal of Medicine ·Fleur S. van Dijk, M. Carola Zillikens, Dimitra Micha, Markus Rießland, Carlo Marcelis, Christine E. de Die-Smulders, Janine Milbradt, Anton A M Franken	2013	168
4	Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome Nature Genetics ·Carine Le Goff, Clémentine Mahaut, Avinash Abhyankar, Wilfried Le Goff, Valérie Serre, Alexandra Afenjar, Anne Destrèe, Maja Di Rocco	2011	136
5	Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype American Journal of Medical Genetics Part A ·Kate Tatton‐Brown, Anne R. Murray, Sandra Hanks, Jenny B. Douglas, Ruth Armstrong, Siddharth Banka, Lynne M. Bird, Carol L. Clericuzio	2013	110
6	Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome European Journal of Medical Genetics ·Saskia M. Maas, Adam C. Shaw, Hennie Bikker, H.-J. Lüdecke, Karin van der Tuin, Magdalena Badura‐Stronka, Elga Fabia Belligni, Elisa Biamino	2015	81
7	A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype American Journal of Medical Genetics Part A ·Paulien A. Terhal, Rutger Jan Nievelstein, Eva J. J. Verver, Vedat Topsakal, Paula van Dommelen, Kristien Hoornaert, Martine Le Merrer, Andreas Zankl	2015	73
8	Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders Genome Medicine ·Madelyn A. Gillentine, Tian-Yun Wang, Kendra Hoekzema, Jill A. Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries	2021	69
9	The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Orphanet Journal of Rare Diseases ·Sarah M. Nikkel, Andrew Nahum Dauber, Sonja de Munnik, Meghan Connolly, Rebecca L. Hood, Oana Caluseriu, Jane A. Hurst, Usha Kini	2013	64
10	De Novo Mutations in YWHAG Cause Early-Onset Epilepsy The American Journal of Human Genetics ·Ilaria Guella, Marna B. McKenzie, Daniel M. Evans, Sarah E. Buerki, Eric B. Toyota, Margot I. Van Allen, Mohnish Suri, Frances Elmslie	2017	60
11	Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia Human Mutation ·Claus‐Eric Ott, Gundula Leschik, Fabienne Trotier, Louise A. Brueton, Han G. Brunner, Wim Brussel, Encarna Guillén‐Navarro, Claudia M. Haase	2010	59
12	De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder Human Genetics ·Lot Snijders Blok, Susan M. Hiatt, Kevin M. Bowling, Jeremy W. Prokop, Krysta L. Engel, J. Nicholas Cochran, Elizabeth Martina Bebin, Emilia K. Bijlsma	2018	57
13	Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome Molecular Psychiatry ·Joost Kummeling, Diante E. Stremmelaar, Nicholas Raun, Margot R.F. Reijnders, Marjolein H. Willemsen, Martina Ruiterkamp‐Versteeg, Marga T. Schepens, C Man	2020	50
14	IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients Genetics in Medicine ·Cyril Mignot, Aoife McMahon, Claire Bar, Philippe M. Campeau, Claire Davidson, Julien Buratti, Caroline Nava, Marie‐Line Jacquemont	2018	49
15	Myhre and LAPS syndromes: clinical and molecular review of 32 patients European Journal of Human Genetics ·Caroline Michot, Carine Le Goff, Clémentine Mahaut, Alexandra Afenjar, Alice S. Brooks, Philippe M. Campeau, Anne Destrèe, Maja Di Rocco	2014	47
16	Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior Genetics in Medicine ·Holly K. Harris, Tojo Nakayama, Jenny F. Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels, Aubrie Soucy, Casie A. Genetti	2021	46
17	Osteoporotic Vertebral Fractures During Pregnancy: Be Aware of a Potential Underlying Genetic Cause The Journal of Clinical Endocrinology & Metabolism ·Natalia Campos‐Obando, Ling Oei, Lies H. Hoefsloot, Rosalie M. Kiewiet, Caroline C. W. Klaver, Marleen Simon, M. Carola Zillikens	2014	45
18	Autosomal Recessive Stickler Syndrome in Two Families Is Caused by Mutations in theCOL9A1Gene Investigative Ophthalmology & Visual Science ·Konstantinos Nikopoulos, Isabelle Schrauwen, Marleen Simon, Rob Collin, Marc Veckeneer, Kathelijn Keymolen, Guy Van Camp, Frans P.M. Cremers	2011	44
19	Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation Human Molecular Genetics ·Angel Ashikov, Nurulamin Abu Bakar, Xiao‐Yan Wen, Marco Niemeijer, Glentino Rodrigues Pinto Osorio, Koroboshka Brand‐Arzamendi, Linda Hasadsri, Hana Hansíková	2018	40
20	Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report Molecular Cytogenetics ·Paula JP de Vree, Marleen Simon, Marieke F. van Dooren, Gerda HT Stoevelaar, José TW Hilkmann, Michel A Rongen, Gido Huijbregts, Annemieke J.M.H. Verkerk	2009	36

About Marleen Simon

Marleen Simon is a scholar working on Genetics, Molecular Biology, Cell Biology, Pathology and Forensic Medicine and Genetics, having authored 56 papers that have together received 2.2k indexed citations. Recurring topics across this work include Connective tissue disorders research (13 papers), Genetics and Neurodevelopmental Disorders (10 papers), Genomics and Rare Diseases (8 papers), Genomic variations and chromosomal abnormalities (6 papers), Epigenetics and DNA Methylation (6 papers), Bone Metabolism and Diseases (5 papers), Bone health and treatments (4 papers) and Ubiquitin and proteasome pathways (4 papers). The work is most often cited by research in Genetics (1.2k citations), Developmental Biology (42 citations), Molecular Biology (1.0k citations), Pediatrics, Perinatology and Child Health (214 citations) and Genetics (119 citations). Marleen Simon has collaborated with scholars based in Netherlands, United States and France. Frequent co-authors include Saskia M. Maas, Jet Bliek, Paulien A. Terhal, Tom G.W. Letteboer, Ben C.J. Hamel, Marcel M. A. M. Mannens, Jasper van der Smagt, Hester Y. Kroes, Georgette B. Salieb–Beugelaar and Lies H. Hoefsloot. Their work appears in journals such as The American Journal of Human Genetics, Genetics in Medicine, European Journal of Human Genetics, American Journal of Medical Genetics Part C Seminars in Medical Genetics and Human Mutation.

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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Marleen Simon

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Marleen Simon

Marleen Simon's Hit Papers

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Fields of papers citing papers by Marleen Simon

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About Marleen Simon

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