de Baere, Elfride B.W.

Top Publications

Top Publications Authored or Co-Authored by "de Baere, Elfride B.W."

• Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus

  Nature Genetics, Volume 42, No. 5, Year 2010, Citations 381
• Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy

  PLoS Genetics, Volume 7, No. 7, Article e1002178, Year 2011, Citations 197
• Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome

  American Journal of Human Genetics, Volume 77, No. 2, Year 2005, Citations 114
• Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

  Genetics in Medicine, Volume 22, No. 7, Year 2020, Citations 92
• 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