Publications

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BMC. 2023 Jan. 25.
Distinct COPD subtypes in former smokers revealed by gene network perturbation analysis.
PLOS Genetics. 2023 Jan. 19.
Using epigenomics to understand cellular responses to environmental influences in diseases.
Schizophrenia Research. 2023 Jan. 14.
Genetic insights into childhood-onset schizophrenia: The yield of clinical exome sequencing.
medRxiv. 2023 Jan. 10.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Biomolecules. 2023 Jan. 9.
Genetic Predisposition to Neurological Complications in Patients with COVID-19.
Nature Biotechnology. 2023 Jan. 2.
Integration of whole transcriptome spatial profiling with protein markers.
Cold Spring Harbor Molecular Case Studies. 2022 Dec. 28.
Whole-genome characterization of myoepithelial carcinomas of the soft tissue.
American Journal of Medical Genetics. 2022 Dec. 23.
Detection of mosaic variants using genome sequencing in a large pediatric cohort.
Nature Methods 2022 Dec. 22.
Efficient combinatorial targeting of RNA transcripts in single cells with Cas13 RNA Perturb-seq.
Nature Biotechnology. 2022 Dec. 19.
Nanobody-tethered transposition enables multifactorial chromatin profiling at single-cell resolution.
Nature. 2022 Dec. 14.
Recurrent repeat expansions in human cancer genomes.
JCO Precision Oncology. 2022 Dec. 8.
Implementation of Whole-Genome and Transcriptome Sequencing Into Clinical Cancer Care.
Nature Neuroscience. 2022 Dec. 8.
Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes.
Nature. 2022 Nov. 30.
Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer.
ACS Synthetic Biology. 2022 Nov. 15.
Expanding the Scope of Bacterial CRISPR Activation with PAM-Flexible dCas9 Variants.
PLOS Computational Biology. 2022 Oct. 20.
Deep mendelian randomization: Investigating the causal knowledge of genomic deep learning models.
Nature Communications. 2022 Oct. 11
Whole genome sequence analysis of blood lipid levels in >66,000 individuals.
Nature Genetics. 2022 Sept. 22.