Center for Human Genetics

Top Publications

Top Publications Authored or Co-Authored in "Center for Human Genetics"

• 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
• Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients

  Human Mutation, Volume 29, No. 10, Year 2008, Citations 100
• Cytogenetic and morphological analysis of early products of conception following hystero-embryoscopy from couples with recurrent pregnancy loss

  Prenatal Diagnosis, Volume 32, No. 10, Year 2012, Citations 49
• Somatic genomic variations in early human prenatal development

  Current Genomics, Volume 11, No. 6, Year 2010, Citations 15