Charlotte W Ockeloen

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 7

Top Topics

Peritoneal Dialysis

Clinical Practice

Ejection Fraction

Patient Reported

Top Venues

Circulation. Genomic and precision medicine

Nature genetics

European journal of human genetics : EJHG

Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners

This page only lists publications with an associated author ORCID identifier.

Publications

Serwet Demirdas, Lisa M van den Bersselaar, Rosan Lechner, Jessica Bos, Suzanne I M Alsters, Marieke J H Baars, Annette F Baas, Özlem Baysal, Saskia N van der Crabben, Eelco Dulfer, Noor A A Giesbertz, Apollonia T J M Helderman-van den Enden, Yvonne Hilhorst-Hofstee, Marlies J E Kempers, Fenne L Komdeur, Bart L Loeys, Danielle Majoor-Krakauer, Charlotte W Ockeloen, Eline Overwater, van J Peter Tintelen, Marsha Voorendt, Vivian de Waard, Alessandra Maugeri, Hennie T Brüggenwirth, Ingrid M B H van de Laar, Arjan C Houweling
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients. Circulation. Genomic and precision medicine 17 (3) (2024)
Serwet Demirdas, Lisa M van den Bersselaar, Rosan Lechner, Jessica Bos, Suzanne I M Alsters, Marieke J H Baars, Annette F Baas, Özlem Baysal, Saskia N van der Crabben, Eelco Dulfer, Noor A A Giesbertz, Apollonia T J M Helderman-van den Enden, Yvonne Hilhorst-Hofstee, Marlies J E Kempers, Fenne L Komdeur, Bart L Loeys, Danielle Majoor-Krakauer, Charlotte W Ockeloen, Eline Overwater, van J Peter Tintelen, Marsha Voorendt, Vivian de Waard, Alessandra Maugeri, Hennie T Brüggenwirth, Ingrid M B H van de Laar, Arjan C Houweling
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients. Circulation. Genomic and precision medicine (2024)
Serwet Demirdas, Lisa M van den Bersselaar, Rosan Lechner, Jessica Bos, Suzanne I M Alsters, Marieke J H Baars, Annette F Baas, Özlem Baysal, Saskia N van der Crabben, Eelco Dulfer, Noor A A Giesbertz, Apollonia T J M Helderman-van den Enden, Yvonne Hilhorst-Hofstee, Marlies J E Kempers, Fenne L Komdeur, Bart L Loeys, Danielle Majoor-Krakauer, Charlotte W Ockeloen, Eline Overwater, van J Peter Tintelen, Marsha Voorendt, Vivian de Waard, Alessandra Maugeri, Hennie T Brüggenwirth, Ingrid M B H van de Laar, Arjan C Houweling
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients. Circulation. Genomic and precision medicine 17 (3) (2024)
Serwet Demirdas, Lisa M van den Bersselaar, Rosan Lechner, Jessica Bos, Suzanne I M Alsters, Marieke J H Baars, Annette F Baas, Özlem Baysal, Saskia N van der Crabben, Eelco Dulfer, Noor A A Giesbertz, Apollonia T J M Helderman-van den Enden, Yvonne Hilhorst-Hofstee, Marlies J E Kempers, Fenne L Komdeur, Bart L Loeys, Danielle Majoor-Krakauer, Charlotte W Ockeloen, Eline Overwater, van J Peter Tintelen, Marsha Voorendt, Vivian de Waard, Alessandra Maugeri, Hennie T Brüggenwirth, Ingrid M B H van de Laar, Arjan C Houweling
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients. Circulation. Genomic and precision medicine 17 (3) (2024)
Alexander J M Dingemans, Max Hinne, Kim M G Truijen, Lia C M J Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, Janneke Schuurs-Hoeijmakers, Rolph Pfundt, Illja J Diets, Joery den Hoed, Elke de Boer, Jet Coenen-van der Spek, Sandra Jansen, Bregje W van Bon, Noraly Jonis, Charlotte W Ockeloen, Anneke T Vulto-van Silfhout, Tjitske Kleefstra, David A Koolen, Philippe M Campeau, Emma Elizabeth Palmer, Hilde Van Esch, Gholson J Lyon, Fowzan Sami Alkuraya, Anita Rauch, Ronit Marom, Diana Baralle, Pleuntje J van der Sluijs, Gijs W E Santen, R Frank Kooy, Marcel A J van Gerven, Lisenka E L M Vissers, Bert B A de Vries
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework. Nature genetics (2023)
Charlotte W Ockeloen, Aron Raaijmakers, Manon Hijmans-van der Vegt, Jörgen Bierau, Judith de Vos-Geelen, Annelieke Ecab Willemsen, Bianca Jc van den Bosch, Marieke Jh Coenen
Potential added value of combined DPYD/DPD genotyping and phenotyping to prevent severe toxicity in patients with a DPYD variant and decreased dihydropyrimidine dehydrogenase enzyme activity. Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners (2021)
Elke de Boer, Charlotte W Ockeloen, Leslie Matalonga, Rita Horvath, null null, Richard J T Rodenburg, Marieke J H Coenen, Mirian Janssen, Dylan Henssen, Christian Gilissen, Wouter Steyaert, Ida Paramonov, null null, Aurélien Trimouille, Tjitske Kleefstra, Alain Verloes, Lisenka E L M Vissers
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis. European journal of human genetics : EJHG 29 (9) (2021)