G. Beunders

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A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

J. Schuurs-Hoeijmakers, B. Ceulemans, T. Kleefstra, 2016, Journal of Medical Genetics.

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.

A. V. Vulto-van Silfhout, R. Pfundt, M. Reijnders, 2019, American journal of human genetics.

A triplication of the Williams–Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms

R. Veenhoven, J. M. van de Kamp, E. Sistermans, 2009, Journal of Medical Genetics.

Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome

B. Ceulemans, E. Sistermans, A. Groffen, 2014, European Journal of Human Genetics.

Recontacting in light of new genetic diagnostic techniques for patients with intellectual disability: Feasibility and parental perspectives.

H. Meijers-Heijboer, L. Henneman, G. Beunders, 2017, European journal of medical genetics.

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

S. Scherer, J. Rosenfeld, E. Eichler, 2013, American journal of human genetics.

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

Bradley P. Coe, Jessie H. Conta, B. Coe, 2015, European Journal of Human Genetics.

Inherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome

L. Vissers, N. Brown, B. D. de Vries, 2021, medRxiv.

Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions

A. Hoischen, N. de Leeuw, J. Tolmie, 2011, Clinical genetics.

Supporting the generalist genes hypothesis for intellectual ability/disability: the case of SNAP25

W. Mechelen, D. Posthuma, J. Deijen, 2012, Genes, brain, and behavior.

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.

L. Vissers, N. Brown, B. D. de Vries, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital

M. Swertz, K. J. van der Velde, K. Abbott, 2021, Frontiers in Pediatrics.

DLG4-related synaptopathy: a new rare brain disorder

L. Feuk, B. V. van Bon, R. Pfundt, 2021, Genetics in Medicine.

CHAPTER 6 Deficiency of the centrosomal protein CEP 170 is associated with microcephaly

E. Bakker, J. Dorsman, S. Piersma, 2015 .

POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum

B. D. de Vries, S. Mehta, E. van Binsbergen, 2023, Clinical genetics.

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

H. Mefford, C. Skinner, R. Stevenson, 2023, medRxiv.

The first case of fatal familial insomnia (FFI) in the Netherlands: a patient from Egyptian descent with concurrent four repeat tau deposits

B. Jelles, J. M. van de Kamp, A. Lemstra, 2011, Neuropathology and applied neurobiology.