PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

• Genetic counselling implementation in dilated cardiomyopathy

  2026 European Heart Journal article Medicine Cardiomyopathy and Myosin Studies Open access

  5

  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
• CNVizard—a lightweight streamlit application for an interactive analysis of copy number variants

  2024 BMC Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access

  6

  citations
• Understanding the genetic complexity of puberty timing across the allele frequency spectrum

  2024 Nature Genetics article Medicine Hypothalamic control of reproductive hormones Open access

  59

  citations
• Understanding the genetic complexity of puberty timing across the allele frequency spectrum

  2023 medRxiv preprint Medicine Hypothalamic control of reproductive hormones Open access

  5

  citations
• Current practice in diagnostic genetic testing of the epilepsies

  2022 Epileptic Disorders article Medicine Epilepsy research and treatment Open access

  111

  citations
• TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

  2022 Nature article Medicine Amyotrophic Lateral Sclerosis Research Open access cited by 15 patents

  561

  citations
• The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

  2022 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  60

  citations
• Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity

  2021 Journal of Allergy and Clinical Immunology article Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access

  33

  citations
• General considerations

  2021 Elsevier eBooks book-chapter Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases

  1

  citations
• Analysis of laboratory reporting practices using a quality assessment of a virtual patient

  2020 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  10

  citations

11 results