Disease variant prediction with deep generative models of evolutionary data

• Mutational scanning reveals oncogenic CTNNB1 mutations have diverse effects on signaling

  2026 Nature Genetics article Biochemistry, Genetics and Molecular Biology Wnt/β-catenin signaling in development and cancer Open access

  11

  citations
• Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk

  2026 Nature Communications article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access

  1

  citations
• Utilizing protein structure graph embeddings to predict the pathogenicity of missense variants

  2025 NAR Genomics and Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  2

  citations
• Carriers of SCN9A variants linked to inherited and acquired pain syndromes show no alteration in the prevalence of pain or analgesic usage in the UK Biobank cohort

  2025 medRxiv preprint Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access

  2

  citations
• Predicting standardized uptake value of brown adipose tissue from CT scans using convolutional neural networks

  2024 Nature Communications article Medicine Adipose Tissue and Metabolism Open access

  3

  citations
• Saturation genome editing of BAP1 functionally classifies somatic and germline variants

  2024 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  58

  citations
• Analyzing the functional effects of DNA variants with gene editing

  2024 Cell Reports Methods article Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access cited by 2 patents

  13

  citations
• Mutational scanning reveals oncogenic CTNNB1 mutations have diverse effects on signalling and clinical traits

  2023 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Wnt/β-catenin signaling in development and cancer Open access

  1

  citations
• Discovery of drug–omics associations in type 2 diabetes with generative deep-learning models

  2023 Nature Biotechnology article Biochemistry, Genetics and Molecular Biology Bioinformatics and Genomic Networks Open access

  109

  citations
• A Visualization and Benchmarking Simulator for Clinical Data

  2022 Studies in health technology and informatics book-chapter Health Professions Electronic Health Records Systems Open access

  0

  citations

10 results