Emmanuelle Haquet

Is the resulting phenotype of an embryo with balanced X-autosome translocation, obtained by means of preimplantation genetic diagnosis, linked to the X inactivation pattern?

F. Ferfouri, Izabel Bernicot, Anouck Schneider et al. · Fertility and Sterility · 2016 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation

Claire Guissart, Charlotte Dubucs, Caroline Raynal et al. · Journal of Cystic Fibrosis · 2016 · 21 citations · Full text

Medicine, Genetics, Molecular Genetics +11

Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule

Laure Cayrefourcq, Marie‐Claire Vincent, Sandra Pierredon et al. · Scientific Reports · 2020 · 21 citations · Full text

Medicine, Genetics, Obstetrics +15

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Kamran Moradkhani, Laurence Cuisset, Pierre Boisseau et al. · Prenatal Diagnosis · 2019 · 17 citations · Full text

Life Sciences, Genetics, Obstetrics +17

Thirteen years' experience of 893 PGD cycles for monogenic disorders in a publicly funded, nationally regulated regional hospital service

Anne Girardet, Aliya Ishmukhametova, Victoria Viart et al. · Reproductive BioMedicine Online · 2017 · 16 citations · Full text

Medicine, Endocrinology, Hospital Medicine +4