Multi-ancestry genome-wide association study of severe pregnancy nausea and vomiting
Fejzo, M. S. et al. Nausea and vomiting of pregnancy and hyperemesis gravidarum. Nat. Rev. Dis. Primers 5,…
Postmitotic transcription and 3D regulation show locus-specific and differentiation-specific sensitivity to cohesin depletion
Furlong, E. E. M. & Levine, M. Developmental enhancers and chromosome topology. Science 361, 1341–1345 (2018). Article CAS …
De novo formation of cis-regulatory contacts in the absence of NIPBL-driven chromatin loop extrusion
Vermunt, M. W., Zhang, D. & Blobel, G. A. The interdependence of gene-regulatory elements and the 3D genome.…
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder
Genetic association analysis We identified the recessive form of RNU2-2 syndrome through a joint statistical analysis of the…
Single-cell spatial transcriptomic analysis of human skin anatomy
A single-cell spatial MERFISH atlas of normal human skin To map the cellular and spatial diversity of human…
A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions
FTLD-FET consortium We established an international consortium to identify and bring together a sufficiently large case population to…
Genome-wide association analyses highlight the role of the intestinal molecular environment in human gut microbiota variation
Ethical considerations The current study has been approved by the Swedish Ethical Review Authority (DNR 2022-06137-01, DNR 2024-01992-02).…
Mutational scanning reveals oncogenic CTNNB1 mutations have diverse effects on signaling
CTNNB1 hotspot mutational patterns are tissue-specific We analyzed 9,248 tumors with CTNNB1 mutations in the COSMIC database (Fig.…
p53 inactivation drives breast cancer metastasis to the brain through SCD1 upregulation and increased fatty acid metabolism
Harbeck, N. et al. Breast cancer. Nat. Rev. Dis. Primers 5, 66 (2019). Article PubMed Google Scholar Chen,…
Adenine DNA methylation associated with transcriptionally permissive chromatin is widespread across eukaryotes
Iyer, L. M., Abhiman, S. & Aravind, L. Natural History of Eukaryotic DNA Methylation Systems, Vol. 101 (Elsevier,…
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
Institute of Medical Genetics, University of Zurich, Zurich, Switzerland Reza Asadollahi, Paranchai Boonsawat, Dennis Kraemer & Anita Rauch Faculty of Engineering and…
Natural selection exerted by historical coronavirus epidemic(s): comparative genetic analysis in China Kadoorie Biobank and UK Biobank | BMC Genomics
AppendixMethodsStatistics and reproducibility The details of each analysis are outlined in the methods section and all of the…