Y. Hilhorst-Hofstee

Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

M. Groenink, M. Kempers, K. Yeung, 2018, Human mutation.

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

Christian Gilissen, Martijn H Breuning, Marjolein Kriek, 2012, Nature Genetics.

SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype

D. Schindler, J. Rouse, Y. Hilhorst‐Hofstee, 2011, Nature Genetics.

The revised Ghent nosology for the Marfan syndrome

Laurence Faivre, Paul Wordsworth, Richard B Devereux, 2010, Journal of Medical Genetics.

A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features.

E. Bakker, Y. Hilhorst‐Hofstee, L. Laan, 2007, European journal of medical genetics.

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

Osdilly Giromus, E. Bakker, C. Ruivenkamp, 2010, European journal of medical genetics.

A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features

G. Marijnissen, C. Ruivenkamp, M. Breuning, 2010, American journal of medical genetics. Part A.

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections

G. Vriend, G. Pals, D. Milewicz, 2015, Human mutation.

Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives.

J. Roos‐Hesselink, B. Bouma, M. Kempers, 2018, International journal of cardiology.