Charlotte W. Ockeloen

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 70 publications

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype-Guided AI for ANKRD11 Missense Variants.

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype-Guided AI for ANKRD11 Missense Variants.

Journal: Clinical genetics

Published: January 23, 2026

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: January 13, 2026

Etiological Diagnosis and Disease Course of Birk-Barel Syndrome in an Adult Woman with a KCNK9 Variant.

Etiological Diagnosis and Disease Course of Birk-Barel Syndrome in an Adult Woman with a KCNK9 Variant.

Journal: International medical case reports journal

Published: December 06, 2025

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice.

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice.

Journal: American journal of medical genetics. Part A

Published: December 04, 2025

A Growth Chart for KBG Syndrome.

A Growth Chart for KBG Syndrome.

Journal: American journal of medical genetics. Part A

Published: November 07, 2025

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations.

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations.

Journal: American journal of medical genetics. Part A

Published: April 28, 2025

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

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

Journal: American journal of medical genetics. Part A

Published: April 14, 2025

Life Beyond Childhood: Insight Into the Lived Experience of 91 Adults With KBG Syndrome Through an Online Patient/Caregiver-Reported Co-Produced Questionnaire.

Life Beyond Childhood: Insight Into the Lived Experience of 91 Adults With KBG Syndrome Through an Online Patient/Caregiver-Reported Co-Produced Questionnaire.

Journal: Brain and behavior

Published: January 22, 2025

The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders.

The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders.

Journal: European journal of human genetics : EJHG

Published: August 22, 2024

DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature review.

DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature review.

Journal: European journal of human genetics : EJHG

Published: May 31, 2024

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: April 23, 2024

Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.

Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.

Journal: Circulation. Genomic and precision medicine

Published: April 16, 2024

Showing 1-12 of 70

Last Updated: 09/26/2026