Patrick Sulem
- Large-scale integration of the plasma proteome with genetics and disease
2021/12/01 by Egil Ferkingstad, Patrick Sulem, Bjarni A. Atlason +63 · 21 citations
Biochemistry, Genetics and Molecular Biology · #Epigenetics and DNA Methylation #Genetic Associations and Epidemiology #Genetic Syndromes and Imprinting
- Multiomics study of nonalcoholic fatty liver disease
2022/10/24 by Gardar Sveinbjornsson, Garðar Sveinbjörnsson, Magnus O. Ulfarsson +72 · 3 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Diet, Metabolism, and Disease #Endoplasmic Reticulum Stress and Disease #Liver Disease Diagnosis and Treatment
- Whole-genome sequencing of 490,640 UK Biobank participants
2025/08/06 by Manuscript Writing Group, Keren Carss, Bjarni V. Halldórsson +97 · 1 voice · 7 citations
Biochemistry, Genetics and Molecular Biology · #Genomics and Rare Diseases #Genetic Associations and Epidemiology #Cancer Genomics and Diagnostics
- Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
2022/04/01 by Sarah E.M. Stephenson, Sarah Stephenson, Gregory Costain +127 · 20 citations
Biochemistry, Genetics and Molecular Biology · #Genomic variations and chromosomal abnormalities #Genetics and Neurodevelopmental Disorders #Ubiquitin and proteasome pathways
- Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy
2025/04/10 by Daniel Greene, Koenraad De Wispelaere, Jonathan Lees +49 · 1 voice · 1 citation
Biochemistry, Genetics and Molecular Biology · #Genetics and Neurodevelopmental Disorders #Genomics and Rare Diseases #RNA and protein synthesis mechanisms