Giedré Grigelioniené

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

Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta

Katarina Lindahl, Eva Åström, Carl‐Johan Rubin et al. · European Journal of Human Genetics · 2015 · 197 citations · Full text

Bone Disease, Bone Health, Genetics +6

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

Rocío Acuña‐Hidalgo, Denny Schanze, Ariana Kariminejad et al. · The American Journal of Human Genetics · 2014 · 150 citations · Full text

Neu-laxova Syndrome, Mendelian Disorder, Cellular Enzymology +12

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 · 139 citations · Full text

FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development

Sheila Unger, Maria W. Górna, Antony Le Béchec et al. · The American Journal of Human Genetics · 2013 · 136 citations · Full text

Bone Disease, Developmental Biology, Mendelian Disorder +5