Maija Wessman

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 10.1K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A genomic mutational constraint map using variation in 76,156 human genomes

Siwei Chen, Laurent C. Francioli, Julia K. Goodrich et al. · Nature · 2023 · 1.3K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

A structural variation reference for medical and population genetics

Ryan L. Collins, Harrison Brand, Konrad J. Karczewski et al. · Nature · 2020 · 1.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease

Julien Bryois, Nathan Skene, Thomas Folkmann Hansen et al. · Nature Genetics · 2020 · 387 citations · Full text

Life Sciences, Genetics, Neuroscience +14

<i>WNT1</i> Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

Christine Lainé, Kyu Sang Joeng, Philippe M. Campeau et al. · New England Journal of Medicine · 2013 · 356 citations · Full text

Medicine, Genetics, Molecular Genetics +17