Michela Barbaro

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

AGC1 Deficiency Associated with Global Cerebral Hypomyelination

Rolf Wibom, Francesco M. Lasorsa, Virpi Töhönen et al. · New England Journal of Medicine · 2009 · 174 citations · Full text

Medicine, Neurology, Neuroscience +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 · 144 citations · Full text

Life Sciences, Immunology, Pediatrics +17

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

Life Sciences, Genetics, Molecular Genetics +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