Genes and molecular pathways underpinning ciliopathies

• Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability

  2025 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access

  1

  citations
• Syndromic retinitis pigmentosa

  2024 Progress in Retinal and Eye Research article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access

  39

  citations
• Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa

  2024 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access

  3

  citations
• From the sideline: Tissue‐specific nucleoporin function in health and disease, an update

  2023 FEBS Letters article Biochemistry, Genetics and Molecular Biology Nuclear Structure and Function Open access

  14

  citations
• Transport and barrier mechanisms that regulate ciliary compartmentalization and ciliopathies

  2023 Nature Reviews Nephrology review Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases

  42

  citations
• Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype

  2021 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access

  180

  citations
• Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 1

  2021 Autophagy article Medicine Autophagy in Disease and Therapy Open access

  2,622

  citations
• Centrosome and ciliary abnormalities in fetal akinesia deformation sequence human fibroblasts

  2020 Scientific Reports article Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access

  7

  citations

8 results