Marianne Schwartz

Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

Koenraad Devriendt, Peter Vandenberghe, Jean-Pierre Fryns, 2001, Nature Genetics.

Recombination of Human Mitochondrial DNA

Konstantin Khrapko, K. Khrapko, M. Schwartz, 2004, Science.

New patterns of inheritance in mitochondrial disease.

M. Schwartz, J. Vissing, John Vissing, 2003, Biochemical and biophysical research communications.

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

Manfred Stuhrmann, Milan Macek, Teresa Casals, 2009, European Journal of Human Genetics.

Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

Xavier Estivill, Manfred Stuhrmann, Milan Macek, 2004, American journal of human genetics.