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L. Clarke

机构:University of British Columbia, BC Children's Hospital · ORCID:0000-0003-0512-7281

发表论文 268 篇 · 总被引 8755 次 · h-index 49

代表论文

  • Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services (2025 · Orphanet Journal of Rare Diseases · 被引 3)
  • Long‐Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I (2024 · American Journal of Medical Genetics Part A · 被引 3)
  • Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework (2024 · Molecular Genetics and Metabolism · 被引 1)
  • Developing a scoring system for gene curation prioritization in lysosomal diseases (2024 · Molecular Genetics and Metabolism · 被引 1)
  • Differential COVID-19 Outcomes Across Lysosomal Disorders (2026 · medRxiv)
  • TEMPORARY REMOVAL: Multimodal genotype-phenotype analysis in SMARCB1-associated developmental disorders (2026 · Genetics in Medicine)