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  • Clémence Vanlerberghe, Florence Petit, +33 authors Joris Andrieux
  • Medicine, Biology
  • European journal of medical genetics
  • 2015 (First Publication: 1 March 2015)
  • Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints (BP) for 15q rearrangements. 15q11.2 microdeletion between BP1 and BP2 has been previously associated withExpand
  • Julia K. Ehret, Hartmut Engels, +23 authors Alexander M. Zink
  • Biology, Medicine
  • Molecular Cytogenetics
  • 2015 (First Publication: 29 September 2015)
  • AbstractBackgroundMost microdeletions involving chromosome sub-bands 9q33.3-9q34.11 to this point have been detected by analyses focused on STXBP1, a gene known to cause early infantile epilepticExpand
  • Jonathan Lévy, Aline Receveur, +7 authors M F Portnoï
  • Biology, Medicine
  • American journal of medical genetics. Part A
  • 2015 (First Publication: 1 February 2015)
  • Mosaicism for an autosomal structural rearrangement that does not involve ring or marker chromosomes is rare. The mechanisms responsible for genome instability have not always been explained. SeveralExpand
  • Anaïs Lavongtheung, Guillaume Jedraszak, +5 authors Julien Chevreau
  • Medicine
  • The journal of maternal-fetal & neonatal medicine…
  • 2018 (First Publication: 1 September 2018)
  • Abstract Background: Fetal ventriculomegaly (VM) is defined as lateral ventricles measured above 10 mm. Some authors believe VM <12 mm are variants of the norm and need not be addressed for referralExpand