Agnès Choiset
Centre National de la Recherche Scientifique(FR)Inserm(FR)Université Paris Cité(FR)Hôpital Cochin(FR)Assistance Publique – Hôpitaux de Paris(FR)Institut Cochin(FR)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, Congenital Anomalies and Fetal Surgery, Genomics and Chromatin Dynamics, Chromosomal and Genetic Variations
Most-Cited Works
- → Chromosomal prenatal diagnosis: Study of 936 cases of intrauterine abnormalities after ultrasound assessment(1989)117 cited
- → Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures(2001)110 cited
- → Intrachromosomal insertion mimicking a pericentric inversion: Molecular cytogenetic characterization of a three break rearrangement of chromosome 20(2005)93 cited
- Prenatal diagnosis of Niemann-Pick type C disease: current strategy from an experience of 37 pregnancies at risk.(1992)
- → A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH(2015)52 cited
- → Inherited interstitial 16q21 deletion of 5.8 Mb without apparent phenotypic effect in three generations of a family: An array‐CGH study(2011)35 cited