Pascale Kleinfinger

C5orf42 is the major gene responsible for OFD syndrome type VI

Estelle Lopez, Christel Thauvin‐Robinet, Bruno Reversade et al. · Human Genetics · 2013 · 87 citations

Mendelian Disorder, Autoimmune Disease, Disease Mechanism +12

Cell-Free DNA Analysis in Maternal Plasma in Cases of Fetal Abnormalities Detected on Ultrasound Examination

Alexandra Benachi, Alexandra Letourneau, Pascale Kleinfinger et al. · Obstetrics and Gynecology · 2015 · 70 citations

A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes

Justine Besseau-Ayasse, C. Violle-Poirsier, Anne Bazin et al. · Prenatal Diagnosis · 2014 · 59 citations

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

Céline Poirsier, Justine Besseau-Ayasse, Caroline Schluth‐Bolard et al. · European Journal of Human Genetics · 2015 · 52 citations · Full text

Epidemiology, Clinical Population, Diagnosis +3

Defining the efficiency of fluorescencein situ hybridization on uncultured amniocytes on a retrospective cohort of 27407 prenatal diagnoses

Patricia Lewin, Pascale Kleinfinger, Anne Bazin et al. · Prenatal Diagnosis · 2000 · 46 citations