Department Human Genetics ▲ Sign in to save

• ▲ Ko Willems van Dijk

  Leiden University · Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  26.9k

  citations

  78

  h-index

  168

  Aachen papers
• ▲ Richard J.L.F. Lemmers

  Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  8.88k

  citations

  46

  h-index

  24

  Aachen papers
• ▲ Willeke van Roon‐Mom

  Leiden University Medical Center Neuroscience
  7.34k

  citations

  44

  h-index

  84

  Aachen papers
• ▲ Bart de Koning

  Maastricht University Medical Centre · Maastricht University Biochemistry, Genetics and Molecular Biology
  983

  citations

  20

  h-index

  1

  Aachen papers
• ▲ Dorina Ibi

  Utrecht University Environmental Science
  517

  citations

  8

  h-index

  6

  Aachen papers

5 results

• Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

  2023 European Journal of Pediatrics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  31

  citations
• 268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials

  2023 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  19

  citations
• Triglyceride-lowering LPL alleles combined with LDL-C-lowering alleles are associated with an additively improved lipoprotein profile

  2021 Atherosclerosis article Medicine Lipid metabolism and disorders Open access

  12

  citations
• Statistical method for modeling sequencing data from different technologies in longitudinal studies with application to Huntington disease

  2020 Biometrical Journal article Biochemistry, Genetics and Molecular Biology Gene expression and cancer classification Open access

  0

  citations

4 results