van Schil, Kristof

Top Publications

Top Publications Authored or Co-Authored by "van Schil, Kristof"

• Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

  Genetics in Medicine, Volume 16, No. 9, Year 2014, Citations 63
• Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

  Clinical Genetics, Volume 102, No. 2, Year 2022, Citations 57
• Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement

  American Journal of Human Genetics, Volume 96, No. 6, Year 2015, Citations 45
• Disease expression in autosomal recessive retinal dystrophy associated with mutations in the DRAM2 gene

  Investigative Ophthalmology and Visual Science, Volume 56, No. 13, Year 2015, Citations 42