Tjitske Kleefstra

19.1k citations

131 papers · 5.7k indexed · 1 hit paper · h-index 38

Genetics top 0.2%
Molecular Biology top 2%
Cognitive Neuroscience top 2%
Cellular and Molecular Neuroscience top 5%
Cell Biology top 5%

Co-authors: Hans van Bokhoven Marjolein H. Willemsen Helger G. Yntema Lisenka E.L.M. Vissers Joris A. Veltman Bert B.A. de Vries Han G. Brunner Bregje W.M. van Bon
Topics: Genetics and Neurodevelopmental Disorders (85 papers)Genomic variations and chromosomal abnormalities (57 papers)Genomics and Rare Diseases (38 papers)
Cited by: Genetics Molecular Biology Cognitive Neuroscience
Journals: New England Journal of Medicine Nucleic Acids Research Nature Medicine
Partner nations: Netherlands United States Germany

In The Last Decade

Tjitske Kleefstra

128 papers receiving 5.6k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

2012 987 citations Marjolein H. Willemsen, Bregje W.M. van Bon et al. profile →

Peers

Countries citing papers authored by Tjitske Kleefstra

Since Specialization

Citations

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

Fields of papers citing papers by Tjitske Kleefstra

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Tjitske Kleefstra

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

All Works

Sort: Min cites: Since: Top N: Style:

20 of 20 papers shown

#	Work	Indexed citations
1	Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes 2024 ·European Journal of Medical Genetics ·(unknown),(unknown),(unknown),(unknown),Pauline Burger,Florent Colin,Tjitske Kleefstra	3
2	Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals 2024 ·Nature Medicine ·Alexander J.M. Dingemans,Sandra Jansen,Jeroen van Reeuwijk,Nicole de Leeuw,Rolph Pfundt,Janneke Schuurs-Hoeijmakers,Bregje W.M. van Bon,Carlo Marcelis,Charlotte W. Ockeloen,Marjolein H. Willemsen,Pleuntje J. van der Sluijs,Gijs W.E. Santen,R. Frank Kooy,Anneke T. Vulto‐van Silfhout,Tjitske Kleefstra,David A. Koolen,Lisenka E.L.M. Vissers,Bert B.A. de Vries	4
3	A complex structural variant near SOX3 causes X-linked split-hand/foot malformation 2023 ·Human Genetics and Genomics Advances ·Elke de Boer,Carlo Marcelis,Kornelia Neveling,Ellen van Beusekom,Alexander Hoischen,Willemijn M. Klein,Nicole de Leeuw,Tuomo Mantere,Uirá Souto Melo,Jeroen van Reeuwijk,Dominique Smeets,Malte Spielmann,Tjitske Kleefstra,Hans van Bokhoven,Lisenka E.L.M. Vissers	1
4	Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome 2023 ·Epilepsia Open ·(unknown),Floor E. Jansen,Charlotte W. Ockeloen,Marjan J. A. van Kempen,(unknown),Marjolein H. Willemsen,Emanuela Scarano,(unknown),Evelien Zonneveld‐Huijssoon,Karen Low,Allan Bayat,Sanjay M. Sisodiya,Debopam Samanta,Gaëtan Lesca,Daniëlle de Jong,(unknown),Nienke E. Verbeek,Tjitske Kleefstra,Eva H. Brilstra,Danique R.M. Vlaskamp	7
5	The role of the gut microbiota in patients with Kleefstra syndrome 2023 ·American Journal of Medical Genetics Part B Neuropsychiatric Genetics ·Mirjam Bloemendaal,(unknown),(unknown),(unknown),(unknown),Tjitske Kleefstra,Alejandro Arias Vásquez	3
6	Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through the cAMP/PKA pathway 2022 ·Cell Reports ·Shan Wang,Jon-Ruben van Rhijn,Ibrahim A. Akkouh,Naoki Kogo,(unknown),(unknown),(unknown),Elly Lewerissa,Ka Man Wu,Chantal Schoenmaker,Srdjan Djurovic,Hans van Bokhoven,Tjitske Kleefstra,Nael Nadif Kasri,Dirk Schubert	37
7	Following Excitation/Inhibition Ratio Homeostasis from Synapse to EEG in Monogenetic Neurodevelopmental Disorders 2022 ·Genes ·(unknown),(unknown),(unknown),(unknown),Tjitske Kleefstra,Matthijs Verhage,Klaus Linkenkaer‐Hansen,Nael Nadif Kasri,L. Niels Cornelisse,Hilgo Bruining	5
8	Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications 2022 ·Genome Medicine ·(unknown),Jolanda Schieving,Helger G. Yntema,Maartje Pennings,Rolph Pfundt,Ronny Derks,Tom Hofste,(unknown),Nienke Wieskamp,(unknown),Jordi Corominas Galbany,Christian Gilissen,Marcel Nelen,Han G. Brunner,Tjitske Kleefstra,Erik‐Jan Kamsteeg,Michèl A.A.P. Willemsen,Lisenka E.L.M. Vissers	25
9	Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth 2021 ·Human Genetics ·Médéric Jeanne,Marie‐Laure Vuillaume,(unknown),Valerie E. Vancollie,Christel Wagner,Stephan C. Collins,(unknown),Damien Haye,(unknown),Rolph Pfundt,(unknown),Marie‐Pierre Moizard,Sylviane Marouillat,Tjitske Kleefstra,Binnaz Yalcin,Frédéric Laumonnier,Annick Toutain	14
10	Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling 2019 ·Nature Communications ·Monica Frega,Katrin Linda,Jason M. Keller,Güvem Gümüş‐Akay,Britt Mossink,(unknown),Moritz Negwer,Teun M. Klein Gunnewiek,(unknown),(unknown),Chantal Schoenmaker,Willem M.R. van den Akker,(unknown),Astrid Oudakker,Huiqing Zhou,Tjitske Kleefstra,Dirk Schubert,Hans van Bokhoven,Nael Nadif Kasri	82
11	Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies 2019 ·The American Journal of Human Genetics ·Alexej Knaus,Fanny Kortüm,Tjitske Kleefstra,Asbjørg Stray‐Pedersen,(unknown),Yoshiko Murakami,Thorsten Gerstner,Hans van Bokhoven,Zafar Iqbal,Denise Horn,Taroh Kinoshita,Maja Hempel,Peter Krawitz	35
12	Mutations in TBR1 gene leads to cortical malformations and intellectual disability 2018 ·European Journal of Medical Genetics ·(unknown),Mara Cavallin,Tjitske Kleefstra,Lonneke de Boer,(unknown),(unknown),Nathalie Boddaert,Arnold Münnich,Laurence Hubert,(unknown),Claude Besmond,Nadia Bahi‐Buisson	21
13	A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus 2018 ·Genetics in Medicine ·Illja J. Diets,Trine Prescott,(unknown),Grazia M.S. Mancini,Bård Kronen Krossnes,Radek Frič,(unknown),Marjolijn C.J. Jongmans,Tjitske Kleefstra	23
14	A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1 2014 ·Gene ·Zehra Agha,Zafar Iqbal,Maleeha Azam,(unknown),Marjolein H. Willemsen,Tjitske Kleefstra,Christiane Zweier,Nicole de Leeuw,Raheel Qamar,Hans van Bokhoven	12
15	Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice 2013 ·Developmental Biology ·(unknown),Muhammad Ansar,Astrid Oudakker,A. van Caam,(unknown),E.L. Vitters,P.M. van der Kraan,Diederik R.H. de Bruijn,Sanne Janssen,Arthur J. Kuipers,Manon M. H. Huibers,(unknown),X. Frank Walboomers,Marco Benevento,Nael Nadif Kasri,Tjitske Kleefstra,Huiqing Zhou,Catharina E.E.M. Van der Zee,Hans van Bokhoven	55
16	Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin‐binding dynamics 2011 ·Clinical Genetics ·Roberta De Filippis,(unknown),Kathrine Bjørgo,(unknown),Tjitske Kleefstra,Elisabetta Grillo,(unknown),Francesco Cardarelli,Ilaria Meloni,Francesca Ariani,Maria Antonietta Mencarelli,Joussef Hayek,Alessandra Renieri,Mario Costa,Francesca Mari	19
17	Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database 2010 ·European Journal of Human Genetics ·(unknown),Efraim H. Rosenberg,Lígia S. Almeida,Tjitske Kleefstra,Charles E. Schwartz,Vassili Valayannopoulos,Omar Abdul‐Rahman,Nicola Poplawski,Laura Vilarinho,Philipp Wolf,Johan T. den Dunnen,Cornelis Jakobs,Gajja S. Salomons	15
18	Haploinsufficiency of the Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) gene causes the 9q subtelomeric deletion syndrome 2006 ·European Journal of Human Genetics ·Tjitske Kleefstra,(unknown),(unknown),(unknown),(unknown),Anthony I. Magee,Gabriele Gillessen‐Kaesbach,Hilde Van Esch,Jean‐Pierre Fryns,(unknown),(unknown),HG Brunner,(unknown),Hans van Bokhoven	1
19	Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome 2006 ·American Journal of Medical Genetics Part A ·Tjitske Kleefstra,David A. Koolen,Willy M. Nillesen,Nicole de Leeuw,Ben C.J. Hamel,Joris A. Veltman,Erik A. Sistermans,Hans van Bokhoven,(unknown),Bert B.A. de Vries	16
20	Severe X-linked mental retardation caused by mutations in the gene for the thyroid hormone transporter MCT8 2004 ·European Journal of Human Genetics ·(unknown),(unknown),(unknown),Tjitske Kleefstra,(unknown),(unknown),(unknown),(unknown),HH Ropers,Jean‐Pierre Fryns,(unknown),Chris Jacobs	10

About Tjitske Kleefstra

Tjitske Kleefstra is a scholar working on Genetics, Molecular Biology and Cognitive Neuroscience, having authored 131 papers that have together received 5.7k indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (85 papers), Genomic variations and chromosomal abnormalities (57 papers) and Genomics and Rare Diseases (38 papers). The work is most often cited by research in Genetics (3.7k citations), Molecular Biology (3.4k citations) and Cognitive Neuroscience (696 citations). Tjitske Kleefstra has collaborated with scholars based in Netherlands, United States and Germany. Frequent co-authors include Hans van Bokhoven, Marjolein H. Willemsen, Helger G. Yntema, Lisenka E.L.M. Vissers, Joris A. Veltman, Bert B.A. de Vries, Han G. Brunner, Bregje W.M. van Bon, David A. Koolen and Christian Gilissen. Their work appears in journals such as New England Journal of Medicine, Nucleic Acids Research and Nature Medicine.

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.

Explore authors with similar magnitude of impact