Sabina Benko
Institut des Maladies Génétiques Imagine(FR)
Publications by Year
Research Areas
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Sexual Differentiation and Disorders, Congenital Heart Disease Studies, Congenital heart defects research, Cleft Lip and Palate Research
Most-Cited Works
- → Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence(2009)434 cited
- → Deposition of 5-Methylcytosine on Enhancer RNAs Enables the Coactivator Function of PGC-1α(2016)230 cited
- → Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development(2011)188 cited
- → Long-range regulation at the SOX9 locus in development and disease: Figure 1(2009)166 cited
- → Identification of Novel Craniofacial Regulatory Domains Located far Upstream ofSOX9and Disrupted in Pierre Robin Sequence(2014)112 cited
- → Altered SOX9 genital tubercle enhancer region in hypospadias(2016)17 cited
- → Disruption of long‐distance highly conserved noncoding elements in neurocristopathies(2010)15 cited
- → Cis-ruptions d’éléments génomiques hautement conservés non codants à distance du gèneSOX9dans la séquence de Pierre Robin(2011)2 cited
- → Genetics of Congenitally Corrected Transposition of the Great Arteries: next generation sequencing shows a mutation load effect for 156 genes involved in cardiac patterning(2023)1 cited
- → Cis-Regulatory Disruption at the SOX9 Locus as a Cause of Pierre Robin Sequence(2012)