Pleuntje J van der Sluijs

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 6

Top Topics

Congenital Heart Disease

Genome Wide Identification

Top Venues

Nature medicine

Nature genetics

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

Publications

Alexander J M Dingemans, Sandra Jansen, Jeroen van Reeuwijk, Nicole de Leeuw, Rolph Pfundt, Janneke Schuurs-Hoeijmakers, Bregje W van Bon, Carlo Marcelis, Charlotte W Ockeloen, Marjolein 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
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals. Nature medicine 30 (7) (2024)
Alexander J M Dingemans, Sandra Jansen, Jeroen van Reeuwijk, Nicole de Leeuw, Rolph Pfundt, Janneke Schuurs-Hoeijmakers, Bregje W van Bon, Carlo Marcelis, Charlotte W Ockeloen, Marjolein 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
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals. Nature medicine 30 (7) (2024)
Alexander J M Dingemans, Sandra Jansen, Jeroen van Reeuwijk, Nicole de Leeuw, Rolph Pfundt, Janneke Schuurs-Hoeijmakers, Bregje W van Bon, Carlo Marcelis, Charlotte W Ockeloen, Marjolein 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
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals. Nature medicine (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)
Alfredo M Valencia, Akshay Sankar, Pleuntje J van der Sluijs, F Kyle Satterstrom, Jack Fu, Michael E Talkowski, Samantha A Schrier Vergano, Gijs W E Santen, Cigall Kadoch
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders. Nature genetics (2023)
Pleuntje J van der Sluijs, Mariëlle Alders, Alexander J M Dingemans, Kareesma Parbhoo, Bregje W van Bon, Jennifer C Dempsey, Daniel A Doherty, Johan T den Dunnen, Erica H Gerkes, Ilana M Milller, Stephanie Moortgat, Debra S Regier, Claudia A L Ruivenkamp, Betsy Schmalz, Thomas Smol, Kyra E Stuurman, Catherine Vincent-Delorme, Bert B A de Vries, Bekim Sadikovic, Scott E Hickey, Jill Anne Rosenfeld, Isabelle Maystadt, Gijs W E Santen
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria. Genes 12 (8) (2021)