Publications by authors named "Gea Beunders"

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AUTS2-related syndrome: Insights from a large European cohort.
Lorenzo Loberti, Loredaria Adamo, Enrica Antolini, Giulia Casamassima, Anne Destrèe, Gea Beunders

Genet Med· June 2025

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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Dmitrijs Rots, Arianne Bouman, Ayumi Yamada, Michael Levy, Alexander J M Dingemans, Gea Beunders

Am J Hum Genet· August 2024

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Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Elisabeth Bosch, Bernt Popp, Esther Güse, Cindy Skinner, Pleuntje J van der Sluijs, Gea Beunders

Genet Med· November 2023

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POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Alessandra Rossi, Lot Snijders Blok, Sonja Neuser, Chiara Klöckner, Konrad Platzer, Gea Beunders

Clin Genet· August 2023

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Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Jet van der Spek, Joery den Hoed, Lot Snijders Blok, Alexander J M Dingemans, Dick Schijven, Gea Beunders

Genet Med· June 2022

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DLG4-related synaptopathy: a new rare brain disorder.
Agustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, Kimberly A Aldinger, Íñigo Marcos-Alcalde, Gea Beunders

Genet Med· May 2021

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Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital.
Miriam E Imafidon, Birgit Sikkema-Raddatz, Kristin M Abbott, Martine T Meems-Veldhuis, Morris A Swertz, Gea Beunders

Front Pediatr· May 2021

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De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
Illja J Diets, Roos van der Donk, Kristina Baltrunaite, Esmé Waanders, Margot R F Reijnders, Gea Beunders

Am J Hum Genet· April 2019

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Recontacting in light of new genetic diagnostic techniques for patients with intellectual disability: Feasibility and parental perspectives.
Gea Beunders, Melodi Dekker, Oscar Haver, Hanne J Meijers-Heijboer, Lidewij Henneman

Eur J Med Genet· April 2018

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A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.
Gea Beunders, Jiddeke van de Kamp, Pradeep Vasudevan, Jenny Morton, Katrien Smets

J Med Genet· August 2016

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The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
David A Koolen, Rolph Pfundt, Katrin Linda, Gea Beunders, Hermine E Veenstra-Knol

Eur J Hum Genet· May 2016

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Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
Gea Beunders, Sonja A de Munnik, Nathalie Van der Aa, Berten Ceulemans, Els Voorhoeve

Eur J Hum Genet· June 2015

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Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M Pardo, Jill A Rosenfeld

Am J Hum Genet· February 2013

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A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms.
Gea Beunders, Jiddeke M van de Kamp, Reinier H Veenhoven, Johanna M van Hagen, Aggie W M Nieuwint

J Med Genet· April 2010

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