J. Vermeesch

Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome

T. de Ravel, J. Clayton-Smith, J. Vermeesch, 2009, Human mutation.

Identification of dosage‐sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia

K. Devriendt, J. Deprest, P. Brady, 2013, Prenatal diagnosis.

Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia

A. Ferrando, D. Gilliland, A. Look, 2004, Nature Genetics.

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

J. Rosenfeld, T. de Ravel, J. Vermeesch, 2009, Journal of Medical Genetics.

Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences

K. Devriendt, J. Fryns, E. Baten, 2002, Clinical genetics.

Clinical implementation of NIPT – technical and biological challenges

H. Peeters, T. de Ravel, K. Devriendt, 2016, Clinical genetics.

Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.

K. Devriendt, J. Vermeesch, J. Deprest, 2014, European journal of medical genetics.

Partial trisomy 3p/monosomy 9p with sex reversal

P. Moerman, J. Fryns, I. Witters, 2004, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

De novo interstitial tandem duplication of chromosome 20p12.1p13

T. de Ravel, J. Vermeesch, J. Fryns, 2003, American journal of medical genetics. Part A.

Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly

T. de Ravel, H. Van Esch, J. Fryns, 2006, Clinical genetics.

Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated

J. Fryns, J R Vermeesch, D. Willekens, 2012, Clinical genetics.