Charlotte Wilhelmina Ockeloen

15PUBLICATIONS
140CO-AUTHORS
NeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Gene mappingAnthropological geneticsGene expression (incl. microarray and other genome-wide approaches)
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Publications (15)

|Jul 27, 2026
Further characterization of the BRSK2-associated neurodevelopmental disorder.

|Mar 23, 2026
Etiological Diagnosis and Disease Course of Birk-Barel Syndrome in an Adult Woman with a KCNK9 Variant.

Willem Verhoeven, Ingrid Spee, Charlotte Wilhelmina Ockeloen

|Mar 05, 2026
Functional Data Strengthen Clinical Validation of PhenoScore Phenotype-Guided AI for ANKRD11 Missense Variants.

Evi Andriessen, Elke de Boer, Gholson J Lyon

|Feb 12, 2026
Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice.

Marit van der Leij, Emilie de Groot, Eleonora Orlandini

|Oct 12, 2025
The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders.

Karen J Low, Julia Foreman, Rachel J Hobson

|Jul 17, 2025
Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review.

Sietse M Aukema, Kim Vandenput, Emanuela Scarano

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Frequent Collaborators

3 joint publications

Karen J Low

3 joint publications

Gholson J Lyon

3 joint publications

Lisenka E L M Vissers

3 joint publications

Anita Rauch