Carola Hedberg‐Oldfors

A new muscle glycogen storage disease associated with glycogenin‐1 deficiency

Edoardo Malfatti, Johanna Nilsson, Carola Hedberg‐Oldfors et al. · Annals of Neurology · 2014 · 86 citations · Full text

Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing

Swaraj Basu, Xie Xie, Jay P. Uhler et al. · PLoS Genetics · 2020 · 68 citations · Full text

Accurate Mapping, Dna, Engineering +22

<i>TANGO2</i> deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism

Elizabeth Jennions, Carola Hedberg‐Oldfors, Anna‐Karin Berglund et al. · Journal of Inherited Metabolic Disease · 2019 · 56 citations

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24

Carola Hedberg‐Oldfors, Alexandra Abramsson, Daniel P. S. Osborn et al. · Human Molecular Genetics · 2019 · 54 citations · Full text

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

Sandra Donkervoort, Carl Elias Kutzner, Ying Hu et al. · The American Journal of Human Genetics · 2020 · 45 citations · Full text

Autoimmune Disease, Medicine, Genetics +5