M. Schwartz

The origin of the major cystic fibrosis mutation (ΔF508) in European populations

Núria Morral, Jaume Bertranpetit, Xavier Estivill et al. · Nature Genetics · 1994 · 343 citations

Fibrosis, Mendelian Disorder, Genetic Disorder +11

Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy

Tina D. Jeppesen, M. Schwartz, David B. Olsen et al. · Brain · 2006 · 206 citations

Muscle Function, Healthy Subjects, Exercise Rehabilitation +21

Exome Sequencing–Based Screening for <i>BRCA1/2</i> Expected Pathogenic Variants Among Adult Biobank Participants

Kandamurugu Manickam, Adam H. Buchanan, M. Schwartz et al. · JAMA Network Open · 2018 · 204 citations · Full text

Genetic heterogeneity among blue-cone monochromats.

Jeremy Nathans, Irene H. Maumenee, Eberhart Zrenner et al. · PubMed · 1993 · 203 citations

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations

Flemming Juul Hansen, N. Sörensen, John Vissing et al. · Brain · 2007 · 182 citations