Irene Stolte‐Dijkstra

3.3k total citations
20 papers, 898 citations indexed

About

Irene Stolte‐Dijkstra is a scholar working on Molecular Biology, Genetics and Clinical Biochemistry. According to data from OpenAlex, Irene Stolte‐Dijkstra has authored 20 papers receiving a total of 898 indexed citations (citations by other indexed papers that have themselves been cited), including 13 papers in Molecular Biology, 11 papers in Genetics and 3 papers in Clinical Biochemistry. Recurrent topics in Irene Stolte‐Dijkstra's work include Genetic Syndromes and Imprinting (4 papers), Genetics and Neurodevelopmental Disorders (4 papers) and Genomics and Rare Diseases (3 papers). Irene Stolte‐Dijkstra is often cited by papers focused on Genetic Syndromes and Imprinting (4 papers), Genetics and Neurodevelopmental Disorders (4 papers) and Genomics and Rare Diseases (3 papers). Irene Stolte‐Dijkstra collaborates with scholars based in Netherlands, United Kingdom and Poland. Irene Stolte‐Dijkstra's co-authors include Peter K. Wellauer, Christine Garrett, Richard S. Houlston, Graham H. Goodwin, Karen Barker, Christina Fleischmann, Gabrielle S. Sellick, Andrew T. Hattersley, Anna L. Gloyn and R. Coleman and has published in prestigious journals such as Proceedings of the National Academy of Sciences, Nature Genetics and Journal of Medical Genetics.

In The Last Decade

Irene Stolte‐Dijkstra

20 papers receiving 881 citations

Peers

Countries citing papers authored by Irene Stolte‐Dijkstra

Since Specialization

Citations

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

Fields of papers citing papers by Irene Stolte‐Dijkstra

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Irene Stolte‐Dijkstra. 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 Irene Stolte‐Dijkstra. The network helps show where Irene Stolte‐Dijkstra may publish in the future.

Co-authorship network of co-authors of Irene Stolte‐Dijkstra

This figure shows the co-authorship network connecting the top 25 collaborators of Irene Stolte‐Dijkstra. A scholar is included among the top collaborators of Irene Stolte‐Dijkstra 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 Irene Stolte‐Dijkstra. Irene Stolte‐Dijkstra 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	Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant 2022 ·European Journal of Paediatric Neurology ·Fleur Vansenne, Johanna M. Fock, Irene Stolte‐Dijkstra, Linda C. Meiners, Marie‐José H. van den Boogaard, Bregje Jaeger, Ludolf G. Boven, Yvonne J. Vos, Richard J. Sinke, Dineke S. Verbeek	3
2	Mutation in LBX1/Lbx1 precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice 2018 ·Proceedings of the National Academy of Sciences ·Luis R. Hernández-Miranda, Daniel M. Ibrahim, Pierre-Louis Ruffault, (unknown), Kira Balueva, Thomas Müller, (unknown), Irene Stolte‐Dijkstra, (unknown), Jean‐François Brunet, Gilles Fortin, Stefan Mundlos, Carmen Birchmeier	28
3	Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature 2018 ·American Journal of Medical Genetics Part A ·Melissa Lorenzo, Irene Stolte‐Dijkstra, Patrick van Rheenen, Ronald G. Smith, (unknown), Jagdeep S. Walia	17
4	A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene 2012 ·Journal of Medical Genetics ·Merel S. Ebberink, Janet Koster, Gepke Visser, Francjan van Spronsen, Irene Stolte‐Dijkstra, Gerrit Smit, Johanna M. Fock, Stephan Kemp, Ronald J. A. Wanders, Hans R. Waterham	98
5	Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome) 2012 ·American Journal of Medical Genetics Part A ·Miles D. Thompson, Tony Roscioli, Carlo Marcelis, Marjan M. Nezarati, Irene Stolte‐Dijkstra, Frances J. Sharom, Pei‐Hua Lu, John A. Phillips, Elizabeth Sweeney, Peter N. Robinson, Peter Krawitz, Helger G. Yntema, Danielle M. Andrade, Han G. Brunner, David E.C. Cole	28
6	Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy 2010 ·American Journal of Medical Genetics Part A ·Gail C. Jackson, (unknown), Irene Stolte‐Dijkstra, Aad Verrips, Jacqueline Taylor, Michael D. Briggs	38
7	Genotype–phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis 2009 ·Journal of Medical Genetics ·Yvonne J. Vos, Hermien E. K. de Walle, (unknown), Arjan Stegeman, (unknown), Monique J. Bruining, Merel C. van Maarle, Mariet W. Elting, Nicolette S. den Hollander, B Hamel, Ana María Fortuna, Lone Sunde, Irene Stolte‐Dijkstra, C. T. R. M. Schrander‐Stumpel, Robert M.W. Hofstra	61
8	A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype–phenotype correlations in type XI collagenopathies 2007 ·American Journal of Medical Genetics Part A ·(unknown), Kristien Hoornaert, Deborah Bartholdi, (unknown), Katelijne Bouman, Marta Carrera, Koenraad Devriendt, Jane A. Hurst, George Kitsos, Dunja Niedrist, Michael B. Petersen, Debbie Shears, Irene Stolte‐Dijkstra, Johanna M. van Hagen, Leena Ala‐Kokko, Minna Männikkö, Geert Mortier	61
9	C.P.2.04 Skipping of exon 16 in COL6A3 is a recurrent mutation causing severe congenital muscular dystrophy type Ullrich 2007 ·Neuromuscular Disorders ·Yaqun Zou, Joachim Schessl, (unknown), Ying Hu, C. Jimenez‐Mallebrera, Gudrun Schreiber, Irene Stolte‐Dijkstra, (unknown), M. L. Chu, Kate Bushby, Robert B. Weiss, Kevin M. Flanigan, F. Muntoni, Carsten G. Bönnemann	1
10	Normal very‐long‐chain fatty acids in peroxisomal D‐bifunctional protein deficiency: A diagnostic pitfall 2005 ·Journal of Inherited Metabolic Disease ·R. J. Soorani‐Lunsing, F. J. van Spronsen, Irene Stolte‐Dijkstra, Ronald J. A. Wanders, Sacha Ferdinandusse, Hans R. Waterham, Bwee Tien Poll‐The, J. P. Rake	12
11	Mutations in PTF1A cause pancreatic and cerebellar agenesis 2004 ·Nature Genetics ·Gabrielle S. Sellick, Karen Barker, Irene Stolte‐Dijkstra, Christina Fleischmann, R. Coleman, Christine Garrett, Anna L. Gloyn, Emma L. Edghill, Andrew T. Hattersley, Peter K. Wellauer, Graham H. Goodwin, Richard S. Houlston	291
12	Possible Bradycardic Mode of Death and Successful Pacemaker Treatment in a Large Family with Features of Long QT Syndrome Type 3 and Brugada Syndrome 2001 ·Journal of Cardiovascular Electrophysiology ·Maarten P. van den Berg, Arthur A.M. Wilde, J. W. Viersma, Jan Brouwer, J. Haaksma, Annemieke H. van der Hout, Irene Stolte‐Dijkstra, Connie R. Bezzina, Irene M. van Langen, Gertie C. M. Beaufort‐Krol, Jan H. Cornel, Harry J.G.M. Crijns	98
13	Perlman syndrome: Four additional cases and review 1999 ·American Journal of Medical Genetics ·(unknown), Richard A. van Lingen, Ben C.J. Hamel, Irene Stolte‐Dijkstra, A.J. van Essen	41
14	Perlman syndrome: Four additional cases and review 1999 ·American Journal of Medical Genetics ·(unknown), Richard A. van Lingen, Ben C.J. Hamel, Irene Stolte‐Dijkstra, A.J. van Essen	3
15	Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype 1999 ·Journal of Medical Genetics ·Roel Hordijk, (unknown), Hans Scheffer, Beike Leegte, Robert M.W. Hofstra, Irene Stolte‐Dijkstra	48
16	Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene 1998 ·Human Mutation ·Senno Verhoef, Radek Vrtěl, (unknown), Irene Stolte‐Dijkstra, Mark Nellist, (unknown), Jacek Zaremba, Sergiusz Jóźwiak, (unknown), Dick Lindhout, Dicky Halley, A.M.W. van den Ouweland	8
17	PRENATAL AND POSTNATAL INVESTIGATION OF A CASE WITH MILLER–DIEKER SYNDROME DUE TO A FAMILIAL CRYPTIC TRANSLOCATION t(17;20) (p13.3;q13.3) DETECTED BY FLUORESCENCEIN SITU HYBRIDIZATION 1997 ·Prenatal Diagnosis ·Shama L. van Zelderen‐Bhola, (unknown), G.C. Beverstock, Irene Stolte‐Dijkstra, Linda S. de Vries, (unknown), Jennie M. Pater	14
18	General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation 1995 ·Journal of Medical Genetics ·Bert B.A. de Vries, Hazel M. Robinson, Irene Stolte‐Dijkstra, (unknown), Piet F. Dijkstra, J. van Doorn, (unknown), B.A. Oostra, Gordon Turner, M. F. Niermeijer	35
19	Refinement by linkage analysis in two large families of the candidate region of the third locus (SCA3) for autosomal dominant cerebellar ataxia type I 1995 ·Human Genetics ·Corien C. Verschuuren‐Bemelmans, E. R. Brunt, (unknown), Rob G.J. Mensink, (unknown), (unknown), Irene Stolte‐Dijkstra, Charles H.C.M. Buys, Hans Scheffer	12
20	INCREASED β- AND ω-OXIDATION OF FATTY ACIDS IN THE SILVER RUSSELL SYNDROME 1985 ·Pediatric Research ·P J Willems, Irene Stolte‐Dijkstra, (unknown), Ruud Berger, G. P. A. Smit	1

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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