Nicole de Leeuw

Publication Activity (10 Years)

Years Active: 2014-2024
Publications (10 Years): 9

Top Topics

Duchenne Muscular Dystrophy

Intellectual Disability

Congenital Heart Disease

Top Venues

Nature medicine

European journal of human genetics : EJHG

Case reports in genetics

American journal of medical genetics. Part A

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)
Maartje Pennings, Rowdy P P Meijer, Monique M Gerrits, Jannie Janssen, Rolph Pfundt, Nicole de Leeuw, Christian Gilissen, Thatjana Gardeitchik, Meyke Schouten, Nicol Voermans, Bart van de Warrenburg, Erik-Jan Kamsteeg
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies. European journal of human genetics : EJHG (2023)
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)
Ana Julia da Cunha Leite, Irene Plaza Pinto, Nico Leijsten, Martina Ruiterkamp-Versteeg, Rolph Pfundt, Nicole de Leeuw, Aparecido Divino da Cruz, Lysa Bernardes Minasi
Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil. PloS one 17 (4) (2022)
Bart P G H van der Sanden, Gaby Schobers, Jordi Corominas Galbany, David A Koolen, Margje Sinnema, Jeroen van Reeuwijk, Connie T R M Stumpel, Tjitske Kleefstra, Bert B A de Vries, Martina Ruiterkamp-Versteeg, Nico Leijsten, Michael Kwint, Ronny Derks, Hilde Swinkels, Amber den Ouden, Rolph Pfundt, Tuula Rinne, Nicole de Leeuw, Alexander P A Stegmann, Servi J C Stevens, Arthur van den Wijngaard, Han G Brunner, Helger G Yntema, Christian Gilissen, Marcel R Nelen, Lisenka E L M Vissers
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders. European journal of human genetics : EJHG (2022)
Nydia Rena Benita Sihombing, Tri Indah Winarni, Hans van Bokhoven, Ineke van der Burgt, Nicole de Leeuw, Sultana Muhammad Hussein Faradz
Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism. American journal of medical genetics. Part A 182 (11) (2020)
Rolph Pfundt, Marisol Del Rosario, Lisenka E L M Vissers, Michael P Kwint, Irene M Janssen, Nicole de Leeuw, Helger G Yntema, Marcel R Nelen, Dorien Lugtenberg, Erik-Jan Kamsteeg, Nienke Wieskamp, Alexander P A Stegmann, Servi J C Stevens, Richard J T Rodenburg, Annet Simons, Arjen R Mensenkamp, Tuula Rinne, Christian Gilissen, Hans Scheffer, Joris A Veltman, Jayne Y Hehir-Kwa
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. Genetics in medicine : official journal of the American College of Medical Genetics 19 (6) (2016)
Almira Zada, Farmaditya E P Mundhofir, Rolph Pfundt, Nico Leijsten, Willy Nillesen, Sultana M H Faradz, Nicole de Leeuw
A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability. Case reports in genetics 2014 (2014)