N. Sørensen

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.

M. Schwartz, J. Vissing, M. Duno, 2007, Brain : a journal of neurology.

High incidence of cystic fibrosis on The Faroe Islands: a molecular and genealogical study

M. Schwartz, E. Høgdall, N. Sørensen, 1995, Human Genetics.

Incidence of cystic fibrosis at the Faroe Islands.

N. Sørensen, M. Schwartz, 1991, Advances in experimental medicine and biology.

A novel RNASEH2B splice site mutation responsible for Aicardi–Goutieres syndrome in the Faroe Islands

M. Duno, E. Ostergaard, F. Hansen, 2012, Acta paediatrica.

Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy.

M. Schwartz, S. Norby, L. Tranebjaerg, 1997, Human molecular genetics.