E. Pijkels

Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).

K. Devriendt, H. Van Esch, W. V. D. Van de Ven, 2005, European journal of medical genetics.

A study of the cognitive and psychological profile in 16 children with congenital or juvenile myotonic dystrophy

J. Steyaert, J. Fryns, E. Legius, 1997, Clinical genetics.

Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome.

H. Van Esch, J. Fryns, E. Pijkels, 2009, European journal of medical genetics.

Cri du chat syndrome: changing phenotype in older patients.

J. Fryns, G. Buggenhout, B. Hamel, 2000, American journal of medical genetics.

No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome

K. Devriendt, J. Vermeesch, J. Fryns, 2003, European Journal of Human Genetics.

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

P. Marynen, H. Van Esch, C. Spaich, 2009, American journal of human genetics.

PPP2R2C, a gene disrupted in autosomal dominant intellectual disability.

T. de Ravel, J. Vermeesch, H. Van Esch, 2010, European journal of medical genetics.