Henrik Stranneheim
Karolinska University Hospital(SE)
Publications by Year
Research Areas
Genomics and Rare Diseases, Mitochondrial Function and Pathology, Genomic variations and chromosomal abnormalities, Genomics and Phylogenetic Studies, Metabolism and Genetic Disorders
Most-Cited Works
- → Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients(2021)258 cited
- → Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures(2015)177 cited
- → From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability(2019)141 cited
- → Increased Throughput by Parallelization of Library Preparation for Massive Sequencing(2010)135 cited
- → Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy(2016)117 cited
- → Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid(2015)107 cited
- → Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders(2015)92 cited
- → Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26(2015)81 cited
- → Inheritance of Acquired Behaviour Adaptations and Brain Gene Expression in Chickens(2009)80 cited
- → Stepping stones in DNA sequencing(2012)71 cited