Emmanuèle C. Délot
University of California, Irvine(US)
Publications by Year
Research Areas
Sexual Differentiation and Disorders, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Genomics and Phylogenetic Studies, Genomics and Rare Diseases, Urological Disorders and Treatments
Most-Cited Works
- → Up-Regulation of WNT-4 Signaling and Dosage-Sensitive Sex Reversal in Humans(2001)365 cited
- → Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development(2014)231 cited
- → Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome(2012)206 cited
- → BMP signaling is required for septation of the outflow tract of the mammalian heart(2002)205 cited
- → Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis(2017)113 cited
- → Beyond the exome: What’s next in diagnostic testing for Mendelian conditions(2023)112 cited
- → Towards improved genetic diagnosis of human differences of sex development