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Nature Medicine|June 1, 2021
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesisPayam Mohassel, Sandra Donkervoort, Museer A Lone, et al.Nature Communications|February 27, 2024
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulationMarwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, et al.The New England Journal of Medicine|October 22, 2015
Genetic Diversity and Protective Efficacy of the RTS,S/AS01 Malaria VaccineD E Neafsey, M Juraska, T Bedford, et al.The Journal of Clinical Investigation|February 7, 2017
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiencySvjetlana Lovric, Sara Goncalves, Heon Yung Gee, et al.Nature|May 29, 2020
The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J Karczewski, Laurent C Francioli, Grace Tiao, et al.Nature Communications|July 21, 2020
Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survivalSyed H Zaidi, Tabitha A Harrison, Amanda I Phipps, et al.Proceedings of the National Academy of Sciences of the United States of America|October 27, 2020
Climate drives the geography of marine consumption by changing predator communitiesMatthew A Whalen, Ross D B Whippo, John J Stachowicz, et al.Human Genetics|March 2, 2019
Genetic variant predictors of gene expression provide new insight into risk of colorectal cancerStephanie A Bien, Yu-Ru Su, David V Conti, et al.Annals of Neurology|April 26, 2018
Congenital Titinopathy: Comprehensive characterization and pathogenic insightsEmily C Oates, Kristi J Jones, Sandra Donkervoort, et al.Human Genetics|June 30, 2019
Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancerStephanie A Bien, Yu-Ru Su, David V Conti, et al.Pageof 143