R. Frank Kooy

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.

Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.

J. Gécz, Y. Humeau, P. Billuart, 2015, Human molecular genetics.

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

Christian Gilissen, Bonnie Nijhof, Annette Schenck, 2013, Human molecular genetics.

FRA18C: a new aphidicolin-inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage

B. Kerem, D. Fitzpatrick, B. Winnepenninckx, 2007, Journal of Medical Genetics.

Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.

Matthias Platzer, Alfons Meindl, R. Stevenson, 2004, American journal of human genetics.

Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: Is there a need for routine screening?

B. Winnepenninckx, E. Reyniers, V. Errijgers, 2002, Human mutation.