Martin Engvall

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Henrik Stranneheim, Kristina Lagerstedt‐Robinson, Måns Magnusson et al. · Genome Medicine · 2021 · 271 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function

Magnus Bjursell, Henk J. Blom, Jordi Asin Cayuela et al. · The American Journal of Human Genetics · 2011 · 135 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Rescue of primary ubiquinone deficiency due to a novel <i>COQ7</i> defect using 2,4–dihydroxybensoic acid

Christoph Freyer, Henrik Stranneheim, K Naess et al. · Journal of Medical Genetics · 2015 · 112 citations · Full text

Life Sciences, Biochemistry, Molecular Genetics +17

Overweight and obesity impair left ventricular systolic function as measured by left ventricular ejection fraction and global longitudinal strain

Peter Blomstrand, Peter Sjöblom, Mats Nilsson et al. · Cardiovascular Diabetology · 2018 · 93 citations · Full text

Medicine, Cardiology, Internal Medicine +16

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

Omar Hikmat, K Naess, Martin Engvall et al. · Journal of Inherited Metabolic Disease · 2020 · 78 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17