B. D. Graaf

O VEREXPRESSION OF THE CHROMOSOME 21 GENE ATP 5 O RESULTS IN FEWER ENTERIC NEURONS ; THE MISSING LINK BETWEEN D OWN SYNDROME AND H IRSCHSPRUNG DISEASE ?

R. Hofstra, R. Reeves, B. Eggen, 2016 .

RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling

R. Sinke, R. Hofstra, A. Sadewa, 2015, European Journal of Human Genetics.

A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia

Elmar Krieger, Peter Heutink, Ben A. Oostra, 2003 .

Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorder

B. Oostra, A. Verkerk, A. Bertoli-Avella, 2010, European Journal of Human Genetics.

disease maps to 4q31.3-q32.3 A novel susceptibility locus for Hirschsprung's

P. Heutink, R. Hofstra, P. Willems, 2006 .

Validation in zebrafish using CRISPR/Cas9 targeting confirmed the contribution of UFD1L, TBX2,

P. Tam, D. Tibboel, R. Hofstra, 2020 .

Familial multiple epiphyseal dysplasia due to a matrilin‐3 mutation: Further delineation of the phenotype including 40 years follow‐up

P. Heutink, D. Lindhout, B. Jansen, 2003, American journal of medical genetics. Part A.