Sylvia E. C. van Beersum

5.2k citations

32 papers · 2.3k indexed · h-index 23

Molecular Biology top 10%
Genetics top 2%
Cellular and Molecular Neuroscience top 5%
Surgery
Cell Biology top 5%

Co-authors: Edwin C.M. Mariman Ben C.J. Hamel Hans‐Hilger Ropers Bjørn R. Olsen Han G. Brunner Ronald Roepman Matthew L. Warman Cor W. R. J. Cremers
Topics: Genetic and Kidney Cyst Diseases (7 papers)Cellular transport and secretion (6 papers)Hereditary Neurological Disorders (5 papers)
Cited by: Genetics Immunology and Allergy Developmental Biology
Journals: Cell Proceedings of the National Academy of Sciences Nature Genetics
Partner nations: Netherlands United States Germany

In The Last Decade

Sylvia E. C. van Beersum

32 papers receiving 2.2k citations

Peers

Countries citing papers authored by Sylvia E. C. van Beersum

Since Specialization

Citations

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

Fields of papers citing papers by Sylvia E. C. van Beersum

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Sylvia E. C. van Beersum. 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 Sylvia E. C. van Beersum. The network helps show where Sylvia E. C. van Beersum may publish in the future.

Co-authorship network of co-authors of Sylvia E. C. van Beersum

This figure shows the co-authorship network connecting the top 25 collaborators of Sylvia E. C. van Beersum. A scholar is included among the top collaborators of Sylvia E. C. van Beersum 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 Sylvia E. C. van Beersum. Sylvia E. C. van Beersum is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to Primary Cilia 2023 ·Cells ·(unknown),Stef J.F. Letteboer,Katrin Junger,Rossano Butcher,(unknown),Sylvia E. C. van Beersum,Marius Ueffing,Rob W.J. Collin,Qin Liu,Karsten Boldt,Ronald Roepman	8
2	Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype 2017 ·The American Journal of Human Genetics ·Ideke J.C. Lamers,Margot R.F. Reijnders,Hanka Venselaar,Alison Kraus,Sandra Jansen,Bert B.A. de Vries,Gunnar Houge,Gyri Aasland Gradek,Jieun Seo,Murim Choi,Jong‐Hee Chae,Ineke van der Burgt,Rolph Pfundt,Stef J.F. Letteboer,Sylvia E. C. van Beersum,Simone Dusseljee,Han G. Brunner,Dan Doherty,Tjitske Kleefstra,Ronald Roepman	26
3	Unexpected CEP290 mRNA Splicing in a Humanized Knock-In Mouse Model for Leber Congenital Amaurosis 2013 ·PLoS ONE ·Alejandro Garanto,Sylvia E. C. van Beersum,Theo Peters,Ronald Roepman,Frans P.M. Cremers,Rob W.J. Collin	50
4	C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome 2011 ·Journal of Medical Genetics ·Heleen H. Arts,Ernie M.H.F. Bongers,Dorus A. Mans,Sylvia E. C. van Beersum,(unknown),Emine Bolat,Liesbeth Spruijt,Elisabeth A. M. Cornelissen,Janneke Schuurs-Hoeijmakers,Nicole de Leeuw,Valérie Cormier‐Daire,Han G. Brunner,Nine V.A.M. Knoers,Ronald Roepman	102
5	Mutations in the Human TBX4 Gene Cause Small Patella Syndrome 2004 ·The American Journal of Human Genetics ·Ernie M.H.F. Bongers,Pascal H. G. Duijf,Sylvia E. C. van Beersum,Jeroen Schoots,Albert van Kampen,(unknown),Ben C.J. Hamel,(unknown),Lies H. Hoefsloot,Helger G. Yntema,Nine V.A.M. Knoers,Hans van Bokhoven	113
6	Identification and Characterization of an Xq26–q27 Duplication in a Family with Spina Bifida and Panhypopituitarism Suggests the Involvement of Two Distinct Genes 2000 ·Genomics ·Frans A. Hol,Marga Schepens,Sylvia E. C. van Beersum,(unknown),Maurizio Affer,Paolo Vezzoni,Ben C.J. Hamel,Pamela S. Karnes,Edwin C.M. Mariman,Ileana Zucchi	53
7	Nail-Patella Syndrome 2000 ·Journal of the American Society of Nephrology ·Nine V.A.M. Knoers,Ernie M.H.F. Bongers,Sylvia E. C. van Beersum,(unknown),Hans van Bokhoven,Frans A. Hol	41
8	Limb Mammary Syndrome: A New Genetic Disorder with Mammary Hypoplasia, Ectrodactyly, and Other Hand/Foot Anomalies Maps to Human Chromosome 3q27 1999 ·The American Journal of Human Genetics ·Hans van Bokhoven,Martin Jung,Arie P.T. Smits,Sylvia E. C. van Beersum,Franz Rüschendorf,Maurice A. M. Van Steensel,(unknown),J.H.A.M. Tuerlings,Edwin C.M. Mariman,Han G. Brunner,Thomas F. Wienker,André Reis,Hans‐Hilger Ropers,Ben C.J. Hamel	72
9	A Mutation in COL9A2 Causes Multiple Epiphyseal Dysplasia (EDM2) 1996 ·Annals of the New York Academy of Sciences ·Yasuteru Muragaki,Edwin C.M. Mariman,Sylvia E. C. van Beersum,Merja Perälä,J. B. A. van Mourik,Matthew L. Warman,Ben C.J. Hamel,Bjørn R. Olsen	15
10	Two divergent types of nerve pathology in patients with different P sub 0 mutations in Charcot-Marie-Tooth disease 1996 ·Neurology ·Anneke Gabreëls-Festen,Jessica E. Hoogendijk,(unknown),F.J.M. Gabreëls,Pieter A. Bolhuis,Sylvia E. C. van Beersum,Tanja Kulkens,Eva Nelis,F.G.I. Jennekens,M. Visser,Baziel G.M. van Engelen,Christine Van Broeckhoven,Edwin C.M. Mariman	116
11	Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity 1995 ·Human Genetics ·Edwin C.M. Mariman,Sylvia E. C. van Beersum,Cor W. R. J. Cremers,Patrick Struycken,Hans‐Hilger Ropers	109
12	Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus 1995 ·Cell ·Miikka Vikkula,(unknown),Vincent Chi Hang Lui,N.I. Zhidkova,George E. Tiller,Mary B. Goldring,Sylvia E. C. van Beersum,M.C. de Waal Malefijt,F.H.J. van den Hoogen,H.H. Ropers,Richard Mayne,Kathryn S.E. Cheah,Bjørn R. Olsen,Matthew L. Warman,Han G. Brunner	292
13	Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies 1994 ·Human Genetics ·Edwin C.M. Mariman,A.A.W.M. Gabreëls‐Festen,Sylvia E. C. van Beersum,Peter Joseph Jongen,(unknown),Frank Baas,Pieter A. Bolhuis,Hans‐Hilger Ropers,F.J.M. Gabreëls	31
14	Clinical and molecular studies in a large Dutch family with Noonan syndrome 1994 ·American Journal of Medical Genetics ·Ineke van der Burgt,(unknown),(unknown),Sylvia E. C. van Beersum,Ben C.J. Hamel,Edwin C.M. Mariman	195
15	Prevalence of the 1.5‐Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies 1994 ·Annals of Neurology ·Edwin C.M. Mariman,A.A.W.M. Gabreëls‐Festen,Sylvia E. C. van Beersum,Linda J. Valentijn,Frank Baas,Pieter A. Bolhuis,Peter Joseph Jongen,Hans‐Hilger Ropers,F.J.M. Gabreëls	59
16	Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: A new X‐linked multiple congenital anomalies/mental retardation syndrome: Clinical description and molecular studies 1994 ·American Journal of Medical Genetics ·Ben C.J. Hamel,Edwin C.M. Mariman,Sylvia E. C. van Beersum,(unknown),Hans‐Hilger Ropers	18
17	A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene 1994 ·Human Molecular Genetics ·Han G. Brunner,Sylvia E. C. van Beersum,(unknown),Bjørn R. Olsen,Hans‐Hilger Ropers,Edwin C.M. Mariman	91
18	Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q 1993 ·Human Genetics ·Edwin C.M. Mariman,Sylvia E. C. van Beersum,Cor W. R. J. Cremers,(unknown),Hans‐Hilger Ropers	70
19	Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1 1993 ·Human Genetics ·Edwin C.M. Mariman,Anneke A. W. M. Gabreëls‐Festen,Sylvia E. C. van Beersum,Peter Joseph Jongen,Hans‐Hilger Ropers,F.J.M. Gabreëls	18
20	Genetic Linkage Between the Collagen VII (COL7A1) Gene and the Autosomal Dominant Form of Dystrophic Epidermolysis Bullosa in Two Dutch Kindreds 1992 ·Journal of Investigative Dermatology ·Nelleke A. Gruis,Jan Nico Bouwes Bavinck,Peter M. Steijlen,J. G. van der Schroeff,Arie van Haeringen,Rudolf Happle,Edwin C.M. Mariman,Sylvia E. C. van Beersum,Jouni Uitto,B.J. Vermeer,Rune R. Frants	28

About Sylvia E. C. van Beersum

Sylvia E. C. van Beersum is a scholar working on Developmental Biology, Genetics and Cell Biology, having authored 32 papers that have together received 2.3k indexed citations. Recurring topics across this work include Genetic and Kidney Cyst Diseases (7 papers), Cellular transport and secretion (6 papers) and Hereditary Neurological Disorders (5 papers). The work is most often cited by research in Genetics (1.1k citations), Immunology and Allergy (190 citations) and Developmental Biology (67 citations). Sylvia E. C. van Beersum has collaborated with scholars based in Netherlands, United States and Germany. Frequent co-authors include Edwin C.M. Mariman, Ben C.J. Hamel, Hans‐Hilger Ropers, Bjørn R. Olsen, Han G. Brunner, Ronald Roepman, Matthew L. Warman, Cor W. R. J. Cremers, Nine V.A.M. Knoers and Heleen H. Arts. Their work appears in journals such as Cell, Proceedings of the National Academy of Sciences and Nature 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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