Géraldine Goudefroye

Phenotypic spectrum of CHARGE syndrome in fetuses with <i>CHD7</i> truncating mutations correlates with expression during human development

Damien Sanlaville, Heather Etchevers, Marie Gonzalès et al. · Journal of Medical Genetics · 2005 · 239 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome

Houda Karmous‐Benailly, Jéléna Martinovic, Marie-Claire Gübler et al. · The American Journal of Human Genetics · 2005 · 136 citations · Full text

Medicine, Obstetrics, Human Genetics +4

New insights into genotype–phenotype correlation for GLI3 mutations

Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli et al. · European Journal of Human Genetics · 2014 · 122 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy

Christelle Golzio, Jessica Guirchoun, Catherine Ozilou et al. · Prenatal Diagnosis · 2006 · 75 citations

Life Sciences, Genetics, Embryogenesis +15

Delineation of<i>EFTUD2</i>Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients

Daphné Lehalle, Christopher T. Gordon, Myriam Oufadem et al. · Human Mutation · 2014 · 58 citations

Life Sciences, Genetics, Molecular Genetics +17