L. Clarke

Medicine · Health Sciences

49h-index8.8kcitations269works0.22yr avg
OpenAlex↗ORCID↗Google Scholar↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Lysosomal Storage Disorders Research(92), Adipose Tissue and Metabolism(32), Trypanosoma species research and implications(29), Glycogen Storage Diseases and Myoclonus(22), Carbohydrate Chemistry and Synthesis(21)

Publications266 total

Cover Image, Volume 200A, Number 2, February 2026
American Journal of Medical Genetics Part A·2026Open Access
Challenging Cases of Nodular Lymphocyte-Predominant Hodgkin Lymphoma with transformation.
Klinische Pädiatrie·2025
P43 Impact of integrated pulmonary and cardiac rehabilitation: a holistic approach to patient care in a 10-week pilot study
2025
tRNA-overlapping long non-coding RNA loci repress codon-biased genes
Cell Reports·2025Open Access
Identification of a Non‐Coding Causative Variant Underlying Warsaw Breakage Syndrome Using Long‐Read Based Genomic Sequencing and Transcriptome Analysis
American Journal of Medical Genetics Part A·2025
Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services
Orphanet Journal of Rare Diseases·2025· 1 citedOpen Access
Relationship between Chronic Respiratory Disease and Pulmonary Hypertension on Non-Invasive Measurement of Fluid Status in Patients With Chronic Heart Failure
Heart Lung and Circulation·2025
A pilot study integrating cardiac and pulmonary rehabilitation for patients with heart failure and chronic obstructive pulmonary disease: comparing outcomes to standalone programs
European Journal of Cardiovascular Nursing·2025Open Access
Pseudodeficiency: A poorly defined and misunderstood term in an era of precision medicine
Molecular Genetics and Metabolism·2025
Skeletal findings in patients with attenuated MPS I receiving laronidase enzyme replacement therapy: Descriptive data from the MPS I registry
Molecular Genetics and Metabolism·2025
Reduced frozen section demand following introduction of intraoperative PTH serum monitoring in Toowoomba Hospital
Pathology·2025
The impact of genetic counselor involvement in genetic and genomic test order review: A scoping review
Genetics in Medicine·2025· 3 citedOpen Access
P719: The power of multi-omics in confirming the pathogenicity of a DDX11 variant causing Warsaw syndrome
Genetics in Medicine Open·2025Open Access
Long‐Term Health Outcomes of Individuals With Pseudodeficiency Alleles in <scp> <i>IDUA</i> </scp> May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I
American Journal of Medical Genetics Part A·2024
Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework
Carolina Digital Repository (University of North Carolina at Chapel Hill)·2024Open Access
Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework
Molecular Genetics and Metabolism·2024· 1 citedOpen Access
Developing a scoring system for gene curation prioritization in lysosomal diseases
Molecular Genetics and Metabolism·2024· 1 citedOpen Access
Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity framework
2024Open Access
THE VALUE OF AUTOMATED FEEDING REGIMES IN SCALABLE PRIMARY T-CELL EXPANSION
Cytotherapy·2024
Development of a scoring system to define lysosomal diseases
Molecular Genetics and Metabolism·2024
page 1 of 14Next →

Frequent Co-authors

Joseph Muenzer(6), Michael R. Hayden(5), Michael Symonds(4), Michael Beck(3), Susan E. Andrew(3), Maximilian Muenke(3), Barbara K. Burton(3), J. E. Wraith(2), Edwin H. Kolodny(2), Gregory M. Pastores(2), David M. Rapoport(2), Kenneth I. Berger(2), Emil Kakkis(2), Gerald F. Cox(2), Karin Gaudenz(2), Nathaniel H. Robin(2), John B. Mulliken(2), R. Sid Wilroy(2), Gary A. Bellus(2), Clair A. Francomano(2)