van der Spek, Peter J.

Top Publications

Top Publications Authored or Co-Authored by "van der Spek, Peter J."

• A European spectrum of pharmacogenomic biomarkers: Implications for clinical pharmacogenomics

  PLoS ONE, Volume 11, No. 9, Article e0162866, Year 2016, Citations 93
• Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

  American Journal of Human Genetics, Volume 105, No. 4, Year 2019, Citations 52
• TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

  American Journal of Human Genetics, Volume 105, No. 6, Year 2019, Citations 49
• CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment

  Human Genetics, Volume 142, No. 3, Year 2023, Citations 12