Jan M. Cobben
Amsterdam, NH, Netherlands
Last Updated: 09/26/2026
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Found 48 publications
Yunis Varon Syndrome: Characteristic Limb Abnormalities and Refining of the Phenotype.
Journal: American journal of medical genetics. Part A
Published: March 06, 2026
Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?
Journal: Prenatal diagnosis
Published: February 03, 2026
Multimodal genotype-phenotype analysis in SMARCB1-associated developmental disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 22, 2025
Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental Disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 22, 2025
Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 16, 2025
Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures.
Journal: The Journal of clinical investigation
Published: September 11, 2025
Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures.
Journal: medRxiv : the preprint server for health sciences
Published: July 16, 2025
Novel Insights Aortic Root Dilatation in an Individual with 3p21.31 Deletion.
Journal: Molecular syndromology
Published: November 11, 2024
CHIME Syndrome in a Child With Homozygous PIGL p.Leu167Pro Variant.
Journal: American journal of medical genetics. Part A
Published: September 23, 2024
Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.
Journal: Frontiers in genetics
Published: March 15, 2024
Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD).
Journal: International journal of molecular sciences
Published: March 04, 2023
Last Updated: 09/26/2026