Charlotte W. Ockeloen

ORCID: 0000-0003-0329-1520
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About
Contact & Profiles
Research Areas
  • Genetics and Neurodevelopmental Disorders
  • Genomics and Rare Diseases
  • Genomic variations and chromosomal abnormalities
  • Congenital heart defects research
  • Autism Spectrum Disorder Research
  • Cancer-related gene regulation
  • Cleft Lip and Palate Research
  • Neurogenetic and Muscular Disorders Research
  • Immunodeficiency and Autoimmune Disorders
  • RNA modifications and cancer
  • dental development and anomalies
  • Congenital limb and hand anomalies
  • Genetic Syndromes and Imprinting
  • Epigenetics and DNA Methylation
  • Genetic factors in colorectal cancer
  • Cancer Genomics and Diagnostics
  • Tissue Engineering and Regenerative Medicine
  • Cardiomyopathy and Myosin Studies
  • Connective tissue disorders research
  • Cellular Mechanics and Interactions
  • RNA regulation and disease
  • Attention Deficit Hyperactivity Disorder
  • Connexins and lens biology
  • Mitochondrial Function and Pathology
  • Prenatal Screening and Diagnostics

Radboud University Nijmegen
2015-2025

Radboud University Medical Center
2015-2025

University Medical Center
2021-2023

Radboud Institute for Molecular Life Sciences
2015-2022

University of Amsterdam
2015

Amsterdam UMC Location University of Amsterdam
2015

Institute of Human Genetics
2015

Charité - Universitätsmedizin Berlin
2012

University of Groningen
2005

Anke Van Dijck Anneke T. Vulto‐van Silfhout Elisa Cappuyns Ilse M. van der Werf Grazia M.S. Mancini and 95 more Andreas Tzschach Raphael Bernier Illana Gozes Evan E. Eichler Corrado Romano Anna Lindstrand Ann Nordgren Malin Kvarnung Tjitske Kleefstra Bert B.A. de Vries Sébastien Küry Jill A. Rosenfeld Marije Meuwissen Geert Vandeweyer R. Frank Kooy Madhura Bakshi Meredith Wilson Yemina Berman Rebecca Dickson Erik Fransén Céline Helsmoortel Jenneke van den Ende Nathalie Van der Aa Marina J. van de Wijdeven Jessica Rosenblum Fabíola Paoli Monteiro Fernando Kok Nada Quercia Sarah Bowdin David A. Dyment David Chitayat Ebba Alkhunaizi Susanne E. Boonen Boris Keren Aurélia Jacquette Laurence Faivre Stéphane Bézieau Bertrand Isidor Angelika Rieß Ute Moog Sally Ann Lynch Terri McVeigh Orly Elpeleg Marie Falkenberg Smeland Madeleine Fannemel Arie van Haeringen Saskia M. Maas Hermine E. Veenstra‐Knol Meyke Schouten Marjolein H. Willemsen Carlo Marcelis Charlotte W. Ockeloen Ineke van der Burgt Ilse Feenstra Jasper van der Smagt Aleksandra Jezela‐Stanek Małgorzata Krajewska‐Walasek Domingo González‐Lamuño Britt‐Marie Anderlid Helena Malmgren Magnus Nordenskjöld Emma Clement Jane A. Hurst Kay Metcalfe Sahar Mansour Katherine Lachlan Jill Clayton‐Smith Laura G. Hendon Omar Abdul‐Rahman Eric M. Morrow Clare McMillan Jennifer Gerdts Joseph Peeden Samantha A. Schrier Vergano Caitlin Valentino Wendy K. Chung Jillian R. Ozmore Sandra Bedrosian‐Sermone Anna Dennis Kayla Treat Susan Hughes Nicole P. Safina Jean‐Baptiste Le Pichon Marianne McGuire Elena Infante Suneeta Madan‐Khetarpal Sonal Desai Paul J. Benke Alyson Krokosky Ingrid Cristian Laura Baker Karen W. Gripp Holly A.F. Stessman Jacob A. Eichenberger Parul Jayakar

10.1016/j.biopsych.2018.02.1173 article EN Biological Psychiatry 2018-03-15
Pleuntje J. van der Sluijs Sandra Jansen Samantha A. Schrier Vergano Miho Adachi-Fukuda Yasemin Alanay and 95 more Adila Al‐Kindy Anwar Baban Allan Bayat Stefanie Beck‐Wödl Katherine Berry Emilia K. Bijlsma Levinus A. Bok Alwin F.J. Brouwer Ineke van der Burgt Philippe M. Campeau Natalie Canham Krystyńa Chrzańowska Yoyo W. Y. Chu Brain H.Y. Chung Karin Dahan Marjan De Rademaeker Anne Destrėe Tracy Dudding‐Byth Rachel K. Earl Nursel Elçioğlu Ellen Roy Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H. Gerkes Ute Grasshoff Arie van Haeringen Karin R. Heitink Johanna C. Herkert Nicolette S. den Hollander Denise Horn David Hunt Sarina G. Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra KAYA KILIÇ Małgorzata Krajewska‐Walasek Kylin Lammers Lone Walentin Laulund Damien Lederer Melissa Lees Vanesa López‐González Saskia M. Maas Grazia M.S. Mancini Carlo Marcelis Francisco Martı́nez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff M. Milunsky Seiji Mizuno John B. Moeschler Christian Netzer Charlotte W. Ockeloen Barbara Oehl‐Jaschkowitz Nobuhiko Okamoto Sharon N.M. Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P. Robertson Maian Roifman Caroline Rooryck Fabienne G. Ropers Mónica Roselló Claudia Ruivenkamp Mahmut Şamil Sağıroğlu Suzanne C.E.H. Sallevelt A. Sanchís Calvo Pelin Özlem Şimşek‐Kiper Gabriela Soares Lucia Solaeche Fatma Müjgan Sönmez Miranda Splitt Duco Steenbeek Alexander P.A. Stegmann Constance T. R. M. Stumpel Saori Tanabe Eyyüp Üçtepe Gülen Eda Ütine Hermine E. Veenstra‐Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent‐Delorme Anneke T. Vulto‐van Silfhout Patricia G. Wheeler Golder N. Wilson Louise C. Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek

<h2>ABSTRACT</h2><h3>Purpose</h3> Pathogenic variants in ARID1B are one of the most frequent causes intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin–Siris patients (ARID1B-CSS) and it is unclear whether these data representative for identified through unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic phenotypic differences between ARID1B-ID ARID1B-CSS. In...

10.1038/s41436-018-0330-z article EN cc-by Genetics in Medicine 2018-10-22

Intellectual disability (ID) is a common neurodevelopmental disorder affecting 1-3% of the general population. Mutations in more than 10% all human genes are considered to be involved this disorder, although majority these still unknown.We investigated 19 small non-consanguineous families with two five affected siblings order identify pathogenic gene variants known, novel and potential ID candidate genes. Non-consanguineous have been largely ignored identification studies as family size...

10.1136/jmedgenet-2013-101644 article EN Journal of Medical Genetics 2013-10-11

BACKGROUND: Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder with high risk for arterial, bowel, and uterine rupture, caused by heterozygous pathogenic variants in COL3A1 . The aim of this cohort study to provide further insights into the natural history vEDS describe genotype-phenotype correlations Dutch multicenter optimize patient care increase awareness disease. METHODS: Individuals throughout Netherlands were included. phenotype was charted retrospective...

10.1161/circgen.122.003978 article EN cc-by Circulation Genomic and Precision Medicine 2024-04-16

<h3>Background</h3> Split-hand/foot malformation (SHFM)—also known as ectrodactyly—is a congenital disorder characterised by severe malformations of the distal limbs affecting central rays hands and/or feet. A distinct entity termed SHFLD presents with SHFM and long bone deficiency. Mouse models suggest that defect apical ectodermal ridge leads to phenotype. Although six different loci/mutations (SHFM1–6) have been associated SHFM, underlying cause in large number cases is still unresolved....

10.1136/jmedgenet-2011-100409 article EN Journal of Medical Genetics 2011-12-06

Abstract CHD8 has been reported as an autism susceptibility/intellectual disability gene but emerging evidence suggests that it additionally causes overgrowth phenotype. This study reports 27 unrelated patients with pathogenic or likely variants (25 null variants, two missense variants) and a male:female ratio of 21:6 (3.5:1, p &lt; .01). All presented intellectual disability, 85% in the mild moderate range, had height and/or head circumference ≥2 standard deviations above mean, meeting our...

10.1002/ajmg.c.31749 article EN American Journal of Medical Genetics Part C Seminars in Medical Genetics 2019-11-13
Dmitrijs Rots Arianne Bouman Ayumi Yamada Michael A. Levy Alexander J.M. Dingemans and 87 more Bert B.A. de Vries Martina Ruiterkamp‐Versteeg Nicole de Leeuw Charlotte W. Ockeloen Rolph Pfundt Elke de Boer Joost Kummeling Bregje W.M. van Bon Hans van Bokhoven Nael Nadif Kasri Hanka Venselaar Mariëlle Alders Jennifer Kerkhof Haley McConkey Alma Kuechler Bart Elffers Rixje van Beeck Calkoen Susanna Hofman Audrey Smith Irene Valenzuela Siddharth Srivastava Zoë Frazier Isabelle Maystadt Carmelo Piscopo Giuseppe Merla Meena Balasubramanian Gijs W.E. Santen Kay Metcalfe Soo‐Mi Park Laurent Pasquier Siddharth Banka Dian Donnai Daniel Weisberg Gertrud Strobl‐Wildemann Annemieke Wagemans Maaike Vreeburg Diana Baralle Nicola Foulds Ingrid Scurr Nicola Brunetti‐Pierri Johanna M. van Hagen Emilia K. Bijlsma Anna H. Hakonen Carolina Courage David Geneviève Lucile Pinson Francesca Forzano Charu Deshpande Maria L. Kluskens Lindsey Welling Astrid S. Plomp Els K. Vanhoutte Louisa Kalsner Janna A. Hol Audrey Putoux Johanna Lazier Pradeep Vasudevan Elizabeth Ames Jessica O'Shea Damien Lederer Julie Fleischer Mary O’Connor M. Pauly Georgia Vasileiou André Reis Cathy Kiraly‐Borri Arjan Bouman Chris Barnett Marjan M. Nezarati Lauren Borch Gea Beunders Kübra Özcan Stéphanie Miot Catharina M.L. Volker‐Touw Koen L.I. van Gassen Gerarda Cappuccio Katrien Janssens Nofar Mor Inna Shomer Dan Dominissini Matthew L. Tedder Alison M. Muir Bekim Sadiković Han G. Brunner Lisenka E.L.M. Vissers Yoichi Shinkai Tjitske Kleefstra

10.1016/j.ajhg.2024.06.008 article EN publisher-specific-oa The American Journal of Human Genetics 2024-07-15
Dmitrijs Rots Sanaa Choufani Víctor Faúndes Alexander J.M. Dingemans Shelagh Joss and 95 more Nicola Foulds Elizabeth A. V. Jones Sarah Stewart Pradeep Vasudevan Tabib Dabir Soo‐Mi Park Rosalyn Jewell Natasha J. Brown Lynn Pais Sébastien Jacquemont Khadijé Jizi Conny M.A. van Ravenswaaij‐Arts Hester Y. Kroes Constance T. R. M. Stumpel Charlotte W. Ockeloen Illja J. Diets Mathilde Nizon Marie Vincent Benjamin Cogné Thomas Besnard Marios Kambouris Emily E. Anderson Elaine H. Zackai Carey McDougall Sarah Donoghue Anne O’Donnell‐Luria Zaheer Valivullah Melanie O’Leary Siddharth Srivastava Heather M. Byers Nancy Leslie Sarah Mazzola George E. Tiller Moin Vera Joseph Shen Richard G. Boles Vani Jain Elise Brischoux‐Boucher Esther Kinning Brittany Simpson Jacques C. Giltay Jacqueline Harris Boris Keren Anne Guimier Pierre Marijon Bert B.A. de Vries Constance Motter Bryce A. Mendelsohn Samantha Coffino Erica H. Gerkes Alexandra Afenjar Paola Visconti Elena Bacchelli Elena Maestrini Andrée Delahaye‐Duriez Catherine Gooch Yvonne Hendriks Hieab H.H. Adams Christel Thauvin‐Robinet Sarah Josephi‐Taylor M. Bertoli Michael Parker Julie W. Rutten Oana Caluseriu Hilary J. Vernon Jonah Kaziyev Jia Zhu Jessica Kremen Zoë Frazier Hailey Osika David T. Breault Sreelata Nair M. E. Suzanne Lewis Fabiola Ceroni Marta Viggiano Annio Posar Helen Brittain Traficante Giovanna Gori Giulia Lina Quteineh Russia Hà-Vinh Leuchter Evelien Zonneveld‐Huijssoon Cecília Mellado Isabelle Marey Alicia Coudert M. Alvarez Milou G. P. Kennis Arianne Bouman Maian Roifman María Inmaculada Amorós Rodríguez Juan Darío Ortigoza‐Escobar Vivian Vernimmen Margje Sinnema Rolph Pfundt Han G. Brunner

10.1016/j.ajhg.2024.06.009 article EN publisher-specific-oa The American Journal of Human Genetics 2024-07-15

Abstract CD229 is a member of the CD150 family Ig superfamily expressed on T and B cells. Receptors this regulate cytokine production cytotoxicity lymphocytes NK The cytoplasmic tail binds to SAP, protein that defective in X-linked lymphoproliferative syndrome. To identify ligand, we generated soluble fusion containing two N-terminal extracellular domains human (CD229-Ig). CD229-Ig bound CD229-transfected cells, whereas no binding was detected cells expressing other receptors, showing...

10.4049/jimmunol.174.11.7033 article EN The Journal of Immunology 2005-06-01

Detailed neurobehavioural profiles are of major value for specific clinical management, but have remained underexposed in the population with intellectual disabilities (ID). This was traditionally classified based on IQ level only. Rapid advances genetics enable etiology stratification majority patients, which reduces heterogeneity. paper illustrates that can be obtained rare syndromes ID. Our main aim to study (mal)adaptive functioning Kleefstra Syndrome (KS) by comparing and contrasting...

10.1002/ajmg.a.38280 article EN American Journal of Medical Genetics Part A 2017-05-12
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