K. Oberndorff

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

A. Hoischen, A. Need, D. Goldstein, 2017, American journal of human genetics.

Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4‐related autoinflammatory disease, expansion of the phenotype

M. Boes, J. Giltay, J. Schalkwijk, 2017, The British journal of dermatology.

University of Dundee Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4- related autoinflammatory disease, expansion of the phenotype Volker-Touw,

M., J. Giltay, J. Schalkwijk, 2016 .

Erythematous nodes , urticarial rash and arthralgias in a large pedigree with NLRC 4-related autoinflammatory disease , expansion of the phenotype Running title : Skin lesions and arthralgias in NLRC 4-related autoinflammatory disease

M., J. Giltay, J. Schalkwijk, 2016 .

Disseminated aspergillosis in a premature neonate.

N. Meessen, K. Oberndorff, J. Jacobs, 1998, The Journal of hospital infection.

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

G. Rouleau, Eunjoon Kim, T. Kleefstra, 2015, Human mutation.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

A. Hoischen, A. Need, D. Goldstein, 2016, American journal of human genetics.