Publications

Nanozyme-catalysed CRISPR assay for preamplification-free detection of non-coding RNAs.

Broto M, Kaminski MM, Adrianus C, et al. Nanozyme-catalysed CRISPR assay for preamplification-free detection of non-coding RNAs. Nat Nanotechnol. 2022. doi:10.1038/s41565-022-01179-0.DOI Google Scholar PubMed

A cross-disorder dosage sensitivity map of the human genome.

Collins RL, Glessner JT, Porcu E, et al. A cross-disorder dosage sensitivity map of the human genome. Cell. 2022;185(16):3041-3055.e25. doi:10.1016/j.cell.2022.06.036.DOI Google Scholar PubMed

Molecular map of chronic lymphocytic leukemia and its impact on outcome.

Knisbacher BA, Lin Z, Hahn CK, et al. Molecular map of chronic lymphocytic leukemia and its impact on outcome. Nat Genet. 2022. doi:10.1038/s41588-022-01140-w.DOI Google Scholar PubMed

Transcriptome variation in human tissues revealed by long-read sequencing.

Glinos DA, Garborcauskas G, Hoffman P, et al. Transcriptome variation in human tissues revealed by long-read sequencing. Nature. 2022. doi:10.1038/s41586-022-05035-y.DOI Google Scholar PubMed

A genetic model for proximity labelling of the mammalian secretome.

Yang R, Meyer AS, Droujinine IA, et al. A genetic model for proximity labelling of the mammalian secretome. Open Biol. 2022;12(8):220149. doi:10.1098/rsob.220149.DOI Google Scholar PubMed

A first update on mapping the human genetic architecture of COVID-19.

COVID-19 Host Genetics Initiative. A first update on mapping the human genetic architecture of COVID-19. Nature. 2022;608(7921):E1-E10. doi:10.1038/s41586-022-04826-7.DOI Google Scholar PubMed

Duration of Symptoms and Association With Positive Home Rapid Antigen Test Results After Infection With SARS-CoV-2.

Cosimi LA, Kelly C, Esposito S, et al. Duration of Symptoms and Association With Positive Home Rapid Antigen Test Results After Infection With SARS-CoV-2. JAMA Netw Open. 2022;5(8):e2225331. doi:10.1001/jamanetworkopen.2022.25331.DOI Google Scholar PubMed

Huntingtin turnover: modulation of huntingtin degradation by cAMP-dependent protein kinase A (PKA) phosphorylation of C-HEAT domain Ser2550.

Lee Y, Kim H, Barker D, et al. Huntingtin turnover: modulation of huntingtin degradation by cAMP-dependent protein kinase A (PKA) phosphorylation of C-HEAT domain Ser2550. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac165.DOI Google Scholar PubMed

Mouse fetal growth restriction through parental and fetal immune gene variation and intercellular communications cascade.

Kaur G, Porter CBM, Ashenberg O, et al. Mouse fetal growth restriction through parental and fetal immune gene variation and intercellular communications cascade. Nat Commun. 2022;13(1):4398. doi:10.1038/s41467-022-32171-w.DOI Google Scholar PubMed

Single-nucleus and spatial transcriptome profiling of pancreatic cancer identifies multicellular dynamics associated with neoadjuvant treatment.

Hwang WL, Jagadeesh KA, Guo JA, et al. Single-nucleus and spatial transcriptome profiling of pancreatic cancer identifies multicellular dynamics associated with neoadjuvant treatment. Nat Genet. 2022. doi:10.1038/s41588-022-01134-8.DOI Google Scholar PubMed