Vyne van der Schoot

发表

The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis.

L. Hoefsloot, Myrthe van den Born, K. Stuurman, 2023, European journal of medical genetics.

Presence of Genetic Variants Among Young Men With Severe COVID-19.

J. Schuurs-Hoeijmakers, A. Hoischen, M. Jaeger, 2020, JAMA.

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Jill A. Madden, J. Rosenfeld, J. R. Younce, 2023, medRxiv.

Exploring uncertainties regarding unsolicited findings in genetic testing.

M. Hillen, H. Yntema, Vyne van der Schoot, 2023, Patient education and counseling.

Whole exome sequencing of known eye genes reveals genetic causes for high myopia

C. Klaver, J. Polling, L. Hoefsloot, 2022, Human molecular genetics.

Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals

L. Vissers, H. Brunner, I. Feenstra, 2021, European journal of human genetics : EJHG.

Clinical geneticists' views on and experiences with unsolicited findings in next‐generation sequencing: “A great technology creating new dilemmas”

H. Brunner, H. Yntema, A. Oerlemans, 2022, Journal of genetic counseling.

Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene

H. Brunner, G. Mancini, H. Venselaar, 2018, Molecular genetics & genomic medicine.

1 in 38 individuals at risk of a dominant medically actionable disease

A. V. Vulto-van Silfhout, L. Vissers, H. Brunner, 2018, European Journal of Human Genetics.

Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing

M. Srebniak, K. Diderich, H. Brüggenwirth, 2023, The application of clinical genetics.

De novo mutations in the SET nuclear proto‐oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability

Magalie S Leduc, H. Brunner, S. Lalani, 2018, Human mutation.