Nicole de Leeuw

12PUBLICATIONS
70CO-AUTHORS
NeurogeneticsCondensed matter characterisation technique developmentDevelopmental genetics (incl. sex determination)Infant and child healthEpigenetics (incl. genome methylation and epigenomics)
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Publications (12)

|Aug 18, 2026
Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.

|Jul 09, 2025
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions.

Russell Gear, Paul Kalitsis, Melissa Glass

|Sep 27, 2024
Novel variants in the SOX11 gene: clinical description of seven new patients.

Beatriz Schincariol-Manhe, Érica Campagnolo, Samira Spineli-Silva

|May 14, 2024
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals.

Alexander J M Dingemans, Sandra Jansen, Jeroen van Reeuwijk

|Aug 07, 2023
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.

Alexander J M Dingemans, Max Hinne, Kim M G Truijen

|Feb 13, 2023
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.

Maartje Pennings, Rowdy P P Meijer, Monique Gerrits

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Frequent Collaborators

4 joint publications

Jeroen van Reeuwijk

3 joint publications

Lisenka E L M Vissers

3 joint publications

Tuula Rinne

3 joint publications

Christian Gilissen