Nine V A M Knoers

Genetic obesity: next-generation sequencing results of 1230 patients with obesity

H. Meijers-Heijboer, B. van der Zwaag, N. Knoers, 2018, Journal of Medical Genetics.

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

Carolyn M Hutter, Edwin W Rubel, Michael Dorschner, 2008, American journal of human genetics.

Massively parallel sequencing of ataxia genes after array‐based enrichment

Christian Gilissen, Alexander Hoischen, Nienke Wieskamp, 2010, Human mutation.

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy

I. V. van Rooij, E. Bongers, R. Roepman, 2018, Pediatric Nephrology.

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.

Christian Gilissen, Alexander Hoischen, Han G Brunner, 2010, American journal of human genetics.