Gea Beunders
Groningen, GR, Netherlands
Last Updated: 09/26/2026
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Found 14 publications
AUTS2-related syndrome: Insights from a large European cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 28, 2024
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Journal: American journal of human genetics
Published: April 01, 2024
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 28, 2023
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Journal: Clinical genetics
Published: January 23, 2023
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 18, 2021
DLG4-related synaptopathy: a new rare brain disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 16, 2020
Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital.
Journal: Frontiers in pediatrics
Published: August 30, 2020
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
Journal: American journal of human genetics
Published: December 19, 2018
Recontacting in light of new genetic diagnostic techniques for patients with intellectual disability: Feasibility and parental perspectives.
Journal: European journal of medical genetics
Published: August 17, 2017
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.
Journal: Journal of medical genetics
Published: November 10, 2015
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
Journal: European journal of human genetics : EJHG
Published: April 28, 2015
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
Journal: European journal of human genetics : EJHG
Published: December 08, 2013
Last Updated: 09/26/2026