Constance M. Stumpel

Maastricht, LI, Netherlands

Last Updated: 09/26/2026

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Found 52 publications

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: October 19, 2025

White matter organization abnormalities in adults with 47,XXX: A 7 Tesla MRI study.

White matter organization abnormalities in adults with 47,XXX: A 7 Tesla MRI study.

Journal: Psychiatry research. Neuroimaging

Published: September 19, 2024

Selective changes in vasopressin neurons and astrocytes in the suprachiasmatic nucleus of Prader-Willi syndrome subjects.

Selective changes in vasopressin neurons and astrocytes in the suprachiasmatic nucleus of Prader-Willi syndrome subjects.

Journal: Journal of neuroendocrinology

Published: August 19, 2024

Intracortical myelin across laminae in adult individuals with 47,XXX: a 7 Tesla MRI study.

Intracortical myelin across laminae in adult individuals with 47,XXX: a 7 Tesla MRI study.

Journal: Cerebral cortex (New York, N.Y. : 1991)

Published: April 12, 2024

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Journal: American journal of human genetics

Published: March 18, 2024

Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion.

Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion.

Journal: Acta neuropathologica

Published: October 02, 2023

Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience.

Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience.

Journal: European journal of human genetics : EJHG

Published: February 23, 2023

Triple X syndrome: Psychiatric disorders and impaired social functioning as a risk factor.

Triple X syndrome: Psychiatric disorders and impaired social functioning as a risk factor.

Journal: European psychiatry : the journal of the Association of European Psychiatrists

Published: December 21, 2022

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: November 23, 2022

Resting-state functional connectivity in adults with 47,XXX: a 7 Tesla MRI study.

Resting-state functional connectivity in adults with 47,XXX: a 7 Tesla MRI study.

Journal: Cerebral cortex (New York, N.Y. : 1991)

Published: July 15, 2022

Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.

Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.

Journal: European journal of medical genetics

Published: July 07, 2022

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 31, 2022

Showing 1-12 of 52

Last Updated: 09/26/2026