Sofia Ygberg

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

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

Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson et al. · Genome Medicine · 2019 · 144 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Salicylidene Acylhydrazides That Affect Type III Protein Secretion in<i>Salmonella enterica</i>Serovar Typhimurium

Aurel Negrea, Eva Bjur, Sofia Ygberg et al. · Antimicrobial Agents and Chemotherapy · 2007 · 116 citations · Full text

Life Sciences, Microbiology, Molecular Biology +17

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

Diana Alcantara, Andrew E. Timms, Karen W. Gripp et al. · Brain · 2017 · 113 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Etiology of community acquired pneumonia among children in India: prospective, cohort study

Joseph L. Mathew, Sunit Singhi, Pallab Ray et al. · Journal of Global Health · 2015 · 84 citations · Full text

Medicine, Infectious Diseases, Pediatrics +17