GENCODE: reference annotation for the human and mouse genomes in 2023

• Kbtbd13 knockdown restores muscle function in a clinically relevant mouse model of nemaline myopathy type 6

  2026 Science Translational Medicine article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders

  2

  citations
• Genome-Wide Association Analysis of Tic Disorders Reveals 6 Independent Risk Loci and Highlights Tic-Associated Cell Types and Brain Circuitry

  2026 medRxiv preprint Psychology Obsessive-Compulsive Spectrum Disorders Open access

  2

  citations
• HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders

  2026 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  5

  citations
• LncRNA-BERT: an RNA language model for classifying coding and long non-coding RNA

  2026 Connection Science article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access

  7

  citations
• Replication-associated mechanisms contribute to an increased CpG > TpG mutation burden in mismatch repair-deficient cancers

  2025 Genome Medicine article Medicine Genetic factors in colorectal cancer Open access

  3

  citations
• Transcriptional profiling directs the classification of acute leukemias of ambiguous lineage into AML, B‐ALL, or T‐ALL

  2025 HemaSphere article Medicine Acute Myeloid Leukemia Research Open access

  4

  citations
• DUX4 activates common and context-specific intergenic transcripts and isoforms

  2025 Science Advances article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  3

  citations
• LncRNA-BERT: An RNA Language Model for Classifying Coding and Long Non-Coding RNA

  2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access

  4

  citations
• Hyper-physiologic mechanical cues, as an osteoarthritis disease relevant environmental perturbation, cause a critical shift in set-points of methylation at transcriptionally active CpG sites in neo-cartilage organoids

  2023 Research Square preprint Medicine Osteoarthritis Treatment and Mechanisms Open access

  1

  citations

9 results

• Conflicting and ambiguous names of overlapping ORFs in the SARS-CoV-2 genome: A homology-based resolution

  2021 Virology article Medicine SARS-CoV-2 and COVID-19 Research Open access cited by 2 patents

  53

  citations

1 result