Guidelines for diagnostic next-generation sequencing

• Application of machine learning in the diagnostic work‐up of telomere biology disorders

  2026 HemaSphere article Medicine Telomeres, Telomerase, and Senescence Open access

  1

  citations
• Recommendations for reporting tissue and circulating tumour (ct)DNA next-generation sequencing results in non-small cell lung cancer

  2024 British Journal of Cancer article Medicine Lung Cancer Treatments and Mutations Open access

  38

  citations
• Quality assurance within the context of genome diagnostics (a german perspective)

  2023 Medizinische Genetik article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  2

  citations
• Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives

  2022 Endocrine Connections article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  5

  citations
• Genetic pain loss disorders

  2022 Nature Reviews Disease Primers review Neuroscience Hereditary Neurological Disorders Open access cited by 2 patents

  60

  citations
• The patient with 41 reports: Analysis of laboratory exome sequencing reporting of a “virtual patient”

  2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  3

  citations
• Recommendations for reporting results of diagnostic genomic testing

  2022 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  55

  citations
• Parents, their children, whole exome sequencing and unsolicited findings: growing towards the child’s future autonomy

  2021 European Journal of Human Genetics article Medicine Ethics and Legal Issues in Pediatric Healthcare Open access

  14

  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
• Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

  2020 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  28

  citations

10 results