Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomaliesMarie‐France Portnoï, Anu Bashamboo, Luca Persani et al.|Human Molecular Genetics|2018Cited by 86
Familial Turner syndrome with an X;Y translocation mosaicism: Implications for genetic counselingMarie‐France Portnoï, Jean‐Pierre Siffroi, Sandra Chantot‐Bastaraud et al.|European Journal of Medical Genetics|2012Cited by 67
Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patientsMarie‐France Portnoï, Muriel Houang, Nicolas Gruchy et al.|Clinical Dysmorphology|2007Cited by 40
Atypical deletion of 22q11.2: Detection using the FISH TBX1 probe and molecular characterization with high-density SNP arraysM Beaujard, Marie‐France Portnoï, Sandra Chantot‐Bastaraud et al.|European Journal of Medical Genetics|2009Cited by 34
A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocationCapucine Hyon, Marie‐France Portnoï, Sandrine Marlin et al.|European Journal of Medical Genetics|2011Cited by 33