J. MacDonald

A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations

Peter Nürnberg, Dominik Seelow, Shazia Ashraf, 2009, PLoS genetics.

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

S. Levy, C. Dang, R. Lewis, 2010, Nature Genetics.

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping

N. Katsanis, P. Beales, H. Kayserili, 2009, Journal of Medical Genetics.

Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).

F. Hildebrandt, S. Heeringa, G. Chernin, 2010, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Whole exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

S. Levy, N. Katsanis, T. Hurd, 2013, Kidney international.

Absence of the fragile X in a group of patients with idiopathic mental retardation.

J. MacDonald, A. Hunter, J. Evans, 1983, Journal of medical genetics.

Genetic mapping of a novel X-linked recessive colobomatous microphthalmia.

H. Coon, D. Lehman, J. MacDonald, 2001, American journal of medical genetics.