Emmelien Aten

2.6k citations

17 papers · 1.0k indexed · h-index 13

Molecular Biology
Genetics top 10%
Pathology and Forensic Medicine
Pediatrics, Perinatology and Child Health top 10%
Cell Biology

Co-authors: Johan T. den Dunnen Rolf H. A. M. Vossen Anja Roos Gijs W.E. Santen Claudia Ruivenkamp Martijn H. Breuning Yu Sun Rowida Almomani
Topics: Prenatal Screening and Diagnostics (4 papers)Genomic variations and chromosomal abnormalities (4 papers)Skin and Cellular Biology Research (2 papers)
Cited by: Genetics Molecular Biology Cell Biology
Journals: Nature Genetics The American Journal of Human Genetics Journal of Medical Genetics
Partner nations: Netherlands United Kingdom United States

In The Last Decade

Emmelien Aten

16 papers receiving 984 citations

Peers

Countries citing papers authored by Emmelien Aten

Since Specialization

Citations

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

Fields of papers citing papers by Emmelien Aten

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Emmelien Aten

This figure shows the co-authorship network connecting the top 25 collaborators of Emmelien Aten. A scholar is included among the top collaborators of Emmelien Aten based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Emmelien Aten. Emmelien Aten is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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17 of 17 papers shown

#	Work	Indexed citations
1	Atypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with LMNA-Gene Variants 2024 ·Journal of Cardiovascular Development and Disease ·(unknown),Ivo P. van de Peppel,Julie W. Rutten,J. Wouter Jukema,Emmelien Aten,Ingrid M. Jazet,(unknown),Daniela Q.C.M. Barge‐Schaapveld,Nina Ajmone Marsan	1
2	Assessing pathogenicity of mismatch repair variants of uncertain significance by molecular tumor analysis 2024 ·Experimental and Molecular Pathology ·A. Lam,(unknown),Arnoud Boot,(unknown),Hans Morreau,Hailiang Mei,(unknown),(unknown),(unknown),Emmelien Aten,Nandy Hofland,(unknown),Emily Rayner,Carli M.J. Tops,Niels de Wind,Tom van Wezel,Maartje Nielsen	0
3	Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22 2023 ·European Journal of Medical Genetics ·(unknown),Anne Claude Tabet,María Clara Bonaglia,(unknown),Britt‐Marie Anderlid,Emmelien Aten,(unknown),D. Gareth Evans,Conny M.A. van Ravenswaaij‐Arts,Sarina G. Kant	8
4	The prevalence of genetic diagnoses in fetuses with severe congenital heart defects 2020 ·Genetics in Medicine ·(unknown),(unknown),Sally‐Ann B. Clur,Ingeborg H. Linskens,Eva Pajkrt,Lukas Rammeloo,Lieke Rozendaal,Nico A. Blom,J. M. M. van Lith,Alida C. Knegt,Mariëtte J.V. Hoffer,Emmelien Aten,Gijs W.E. Santen,Monique C. Haak	48
5	Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology 2020 ·Journal of Medical Genetics ·(unknown),Yasmine L. Hiemstra,Tamara T. Koopmann,Claudia Ruivenkamp,Emmelien Aten,Martin J. Schalij,Jeroen J. Bax,Victoria Delgado,Daniela Q.C.M. Barge‐Schaapveld,Nina Ajmone Marsan	23
6	From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care 2019 ·Genetics in Medicine ·(unknown),Monique C. Haak,P. N. Adama van Scheltema,Cacha Peeters‐Scholte,Tamara T. Koopmann,Esther Nibbeling,Emmelien Aten,Nicolette S. den Hollander,Claudia Ruivenkamp,Mariëtte J.V. Hoffer,Gijs W.E. Santen	39
7	GPSM2 and Chudley–McCullough Syndrome: A Dutch Founder Variant Brought to North America 2013 ·American Journal of Medical Genetics Part A ·Rowida Almomani,Yu Sun,Emmelien Aten,Yvonne Hilhorst‐Hofstee,Cacha Peeters‐Scholte,Arie van Haeringen,Yvonne Hendriks,Johan T. den Dunnen,Martijn H. Breuning,Marjolein Kriek,Gijs W.E. Santen	11
8	Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants inTPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease) 2013 ·Human Mutation ·Yu Sun,Rowida Almomani,Guido J. Breedveld,Gijs W.E. Santen,Emmelien Aten,Dirk J. Lefeber,Jorrit I. Hoff,Esther Brusse,Frans W. Verheijen,Robert M. Verdijk,Marjolein Kriek,Ben A. Oostra,Martijn H. Breuning,Monique Losekoot,Johan T. den Dunnen,Bart P. van de Warrenburg,Anneke Maat‐Kievit	59
9	Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome 2012 ·Nature Genetics ·Gijs W.E. Santen,Emmelien Aten,Yu Sun,Rowida Almomani,Christian Gilissen,Maartje Nielsen,Sarina G. Kant,I. Snoeck,E Peeters,Yvonne Hilhorst‐Hofstee,Marja W. Wessels,Nicolette S. den Hollander,Claudia Ruivenkamp,Gert‐Jan B. van Ommen,Martijn H. Breuning,Johan T. den Dunnen,Arie van Haeringen,Marjolein Kriek	235
10	Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia 2012 ·Journal of Medical Genetics ·Maartje Nielsen,Clementien L. Vermont,Emmelien Aten,Claudia Ruivenkamp,(unknown),Gijs W.E. Santen,Martijn H. Breuning	23
11	Exome Sequencing Identifies A Branch Point Variant in Aarskog-Scott Syndrome 2012 ·Human Mutation ·Emmelien Aten,Yu Sun,Rowida Almomani,Gijs W.E. Santen,Tobias Messemaker,Saskia M. Maas,Martijn H. Breuning,Johan T. den Dunnen	17
12	Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2 2010 ·Human Mutation ·Emmelien Aten,(unknown),Dorothea Bornholdt,Ingeborg B. Hooijkaas,Mary Porteous,Virginia P. Sybert,Maarten H. Vermeer,Rolf H. A. M. Vossen,Michiel J.R. van der Wielen,Egbert Bakker,M.H. Breuning,Karl‐Heinz Grzeschik,Jan C. Oosterwijk,Johan T. den Dunnen	49
13	Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene 2010 ·The American Journal of Human Genetics ·Yu Sun,Rowida Almomani,Emmelien Aten,Jacopo Celli,(unknown),Hanka Venselaar,Stephen P. Robertson,Anna Baroncini,Brunella Franco,Lina Basel‐Vanagaite,Emiko Horii,Ricardo Drut,Yavuz Ariyürek,Johan T. den Dunnen,Martijn H. Breuning	45
14	Split hand‐foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion—evidence for further heterogeneity? 2009 ·American Journal of Medical Genetics Part A ·Emmelien Aten,Nicolette S. den Hollander,Claudia Ruivenkamp,Jeroen Knijnenburg,Hans van Bokhoven,Johan T. den Dunnen,Martijn H. Breuning	17
15	High-Resolution Melting Analysis (HRMA)-More than just sequence variant screening 2009 ·Human Mutation ·Rolf H. A. M. Vossen,Emmelien Aten,Anja Roos,Johan T. den Dunnen	375
16	Methods to detect CNVs in the human genome 2008 ·Cytogenetic and Genome Research ·Emmelien Aten,Stefan J. White,(unknown),Rolf H. A. M. Vossen,(unknown),Claudia Ruivenkamp,Marjolein Kriek,M.H. Breuning,Johan T. den Dunnen	27
17	Genetic islands of Streptococcus agalactiae strains NEM316 and 2603VR and their presence in other Group B Streptococcal strains 2005 ·BMC Microbiology ·Mark Herbert,(unknown),David L. McCormick,Emmelien Aten,Nicola Jones,Lori A.S. Snyder,Nigel J. Saunders	27

About Emmelien Aten

Emmelien Aten is a scholar working on Developmental Biology, Genetics and Cell Biology, having authored 17 papers that have together received 1.0k indexed citations. Recurring topics across this work include Prenatal Screening and Diagnostics (4 papers), Genomic variations and chromosomal abnormalities (4 papers) and Skin and Cellular Biology Research (2 papers). The work is most often cited by research in Genetics (333 citations), Molecular Biology (573 citations) and Cell Biology (92 citations). Emmelien Aten has collaborated with scholars based in Netherlands, United Kingdom and United States. Frequent co-authors include Johan T. den Dunnen, Rolf H. A. M. Vossen, Anja Roos, Gijs W.E. Santen, Claudia Ruivenkamp, Martijn H. Breuning, Yu Sun, Rowida Almomani, Marjolein Kriek and Nicolette S. den Hollander. Their work appears in journals such as Nature Genetics, The American Journal of Human Genetics and Journal of Medical 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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