Emmelien Aten

2.6k citations

17 papers · 1.0k indexed · h-index 13

Genetics top 10%
- Genomic variations and chromosomal abnormalities 4
Molecular Biology
- Chromatin Remodeling and Cancer 2
- RNA modifications and cancer 2
- RNA and protein synthesis mechanisms 2
- RNA Research and Splicing 2
Cell Biology
- Skin and Cellular Biology Research 2
- Cellular transport and secretion 2
Pathology and Forensic Medicine
Pediatrics, Perinatology and Child Health top 10%
- Prenatal Screening and Diagnostics 4

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
Cited by: Genetics Molecular Biology Cell Biology
Journals: Nature Genetics (1 paper)The American Journal of Human Genetics (1 paper)Journal of Medical Genetics (2 papers)
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

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

All Works

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17 of 17 papers shown

#	Work
1	Atypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with LMNA-Gene Variants Journal of Cardiovascular Development and Disease ·Hoi W Wu,Ivo P. van de Peppel,Julie W. Rutten,J. Wouter Jukema,Emmelien Aten,Ingrid M. Jazet,Tamara T. Koopmann,Daniela Q.C.M. Barge‐Schaapveld,Nina Ajmone Marsan	2024	1
2	Assessing pathogenicity of mismatch repair variants of uncertain significance by molecular tumor analysis Experimental and Molecular Pathology ·A. Lam,Noah C. Helderman,Arnoud Boot,Diantha Terlouw,Hans Morreau,Hailiang Mei,Rebecca E. E. Esveldt–van Lange,Inge M. M. Lakeman,Christi J. van Asperen,Emmelien Aten,Nandy Hofland,Pia A. M. de Koning Gans,Emily Rayner,Carli M.J. Tops,Niels de Wind,Tom van Wezel,Maartje Nielsen	2024	0
3	Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22 European Journal of Medical Genetics ·Sylvia A. Koza,Anne Claude Tabet,María Clara Bonaglia,Stephanie Andres,Britt‐Marie Anderlid,Emmelien Aten,Dominique Stiefsohn,D. Gareth Evans,Conny M.A. van Ravenswaaij‐Arts,Sarina G. Kant	2023	8
4	The prevalence of genetic diagnoses in fetuses with severe congenital heart defects Genetics in Medicine ·A. van Nisselrooij,Malou A. Lugthart,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	2020	48
5	Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology Journal of Medical Genetics ·Aniek L. van Wijngaarden,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	2020	23
6	From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care Genetics in Medicine ·Maayke A. de Koning,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	2019	39
7	GPSM2 and Chudley–McCullough Syndrome: A Dutch Founder Variant Brought to North America 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	2013	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) 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	2013	59
9	Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome 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	2012	235
10	Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia Journal of Medical Genetics ·Maartje Nielsen,Clementien L. Vermont,Emmelien Aten,Claudia Ruivenkamp,Femke van Herrewegen,Gijs W.E. Santen,Martijn H. Breuning	2012	23
11	Exome Sequencing Identifies A Branch Point Variant in Aarskog-Scott Syndrome Human Mutation ·Emmelien Aten,Yu Sun,Rowida Almomani,Gijs W.E. Santen,Tobias Messemaker,Saskia M. Maas,Martijn H. Breuning,Johan T. den Dunnen	2012	17
12	Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2 Human Mutation ·Emmelien Aten,Lisa C. Brasz,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	2010	49
13	Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene The American Journal of Human Genetics ·Yu Sun,Rowida Almomani,Emmelien Aten,Jacopo Celli,Jaap van der Heijden,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	2010	45
14	Split hand‐foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion—evidence for further heterogeneity? 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	2009	17
15	High-Resolution Melting Analysis (HRMA)-More than just sequence variant screening Human Mutation ·Rolf H. A. M. Vossen,Emmelien Aten,Anja Roos,Johan T. den Dunnen	2009	375
16	Methods to detect CNVs in the human genome Cytogenetic and Genome Research ·Emmelien Aten,Stefan J. White,M.E. Kalf,Rolf H. A. M. Vossen,H.H. Thygesen,Claudia Ruivenkamp,Marjolein Kriek,M.H. Breuning,Johan T. den Dunnen	2008	27
17	Genetic islands of Streptococcus agalactiae strains NEM316 and 2603VR and their presence in other Group B Streptococcal strains BMC Microbiology ·Mark Herbert,Catriona JE Beveridge,David L. McCormick,Emmelien Aten,Nicola Jones,Lori A.S. Snyder,Nigel J. Saunders	2005	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), Skin and Cellular Biology Research (2 papers), Cellular transport and secretion (2 papers), Chromatin Remodeling and Cancer (2 papers), RNA modifications and cancer (2 papers), RNA and protein synthesis mechanisms (2 papers) and RNA Research and Splicing (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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