Concepedia
Statistics
Publications
38
Citations
2.1K
H-Index
25
Active since
2003
Affiliations
Karolinska University Hospital(Current)
Karolinska Institutet
Science for Life Laboratory
Lund University
University of Bologna
Michela Barbaro is an author at Karolinska University Hospital specializing in medicine, genetics, and molecular genetics.
Top concepts
MedicineGeneticsPathologyMolecular GeneticsHealthPediatricsMolecular BiologyDevelopmental BiologyInherited Metabolic DiseaseDisorders Of Sex Development
Publications per year
2003–2024
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 · 253 citations · Full text
AGC1 Deficiency Associated with Global Cerebral Hypomyelination
Rolf Wibom, Francesco M. Lasorsa, Virpi Töhönen et al. · New England Journal of Medicine · 2009 · 170 citations · Full text
Neurological Disorder, Genetics, Agc1 Deficiency Associated +17
Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden—a 2-Year Pilot TREC and KREC Screening Study
Michela Barbaro, Annika Ohlsson, Stephan Borte et al. · Journal of Clinical Immunology · 2016 · 139 citations · Full text
Immunohematology, Neonatology, Immunodeficiencies +24
Isolated 46,XY Gonadal Dysgenesis in Two Sisters Caused by a Xp21.2 Interstitial Duplication Containing the<i>DAX1</i>Gene
Michela Barbaro, Mikael Oscarson, Jacqueline Schoumans et al. · The Journal of Clinical Endocrinology & Metabolism · 2007 · 136 citations · Full text
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 · 106 citations · Full text
1–5 of 38