Publications

99
Results
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Neuro-Oncology. 2023 May 29.
Significant increase of high-risk chromosome 1q gain and 6q loss at recurrence in posterior fossa group A ependymoma: a multicenter study.
Biomolecules. 2023 Jan. 9.
Genetic Predisposition to Neurological Complications in Patients with COVID-19.
Nature. 2022 Dec. 14.
Recurrent repeat expansions in human cancer genomes.
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.
AACR Journals. 2022 Sept. 19.
African Ancestry Associated Gene Expression Profiles in Triple Negative Breast Cancer Underlie Altered Tumor Biology and Clinical Outcome in Women of African Descent.
npj Genomic Medicine. 2022 Sept. 5.
A translational genomics approach identifies IL10RB as the top candidate gene target for COVID-19 susceptibility.
Cell. 2022 Sept. 1.
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios.
PNAS Nexus. 2022 June 24.
Retromer dysfunction in amyotrophic lateral sclerosis.
Nature Communications. 2022 June 13.
Gene expression signatures of individual ductal carcinoma in situ lesions identify processes and biomarkers associated with progression towards invasive ductal carcinoma.
Nature Biotechnology. 2022 May 30.
Identifying synergistic high-order 3D chromatin conformations from genome-scale nanopore concatemer sequencing.
Nature Communications. 2022 Apr. 28.
Somatic whole genome dynamics of precancer in Barrett’s esophagus reveals features associated with disease progression.
Cell Genomics. 2022 Apr. 28.
Benchmarking challenging small variants with linked and long reads.
Nature Genetics. 2022 Apr. 11.
Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes.
Nature Communications. 2022 March 28.
Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology.
Cell Reports Medicine. 2022 Feb. 15.
System-wide transcriptome damage and tissue identity loss in COVID-19 patients.
Nature Biotechnology. 2022 Feb. 7.
Curated variation benchmarks for challenging medically relevant autosomal genes.
iScience. 2022 Jan. 10.