Janssens, Sandra

Top Publications

Top Publications Authored or Co-Authored by "Janssens, Sandra"

• The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

  Nature Genetics, Volume 49, No. 1, Year 2017, Citations 247
• Genotype-phenotype analysis of the branchio-oculo-facial syndrome

  American Journal of Medical Genetics, Part A, Volume 155, No. 1, Year 2011, Citations 67
• FGFR1 mutations cause hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

  Journal of Medical Genetics, Volume 50, No. 9, Year 2013, Citations 66
• Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus

  Investigative Ophthalmology and Visual Science, Volume 56, No. 3, Year 2015, Citations 26