Joëlle Augé

<i>PAX8</i>,<i>TITF1</i>, and<i>FOXE1</i>Gene Expression Patterns during Human Development: New Insights into Human Thyroid Development and Thyroid Dysgenesis-Associated Malformations

Sylvia Sura Trueba, Joëlle Augé, Géraldine Mattei et al. · The Journal of Clinical Endocrinology & Metabolism · 2005 · 224 citations

Genetics, Pathology, Molecular Genetics +22

Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation

Florence Molinari, Marlène Rio, Virginia Meskenaïte et al. · Science · 2002 · 184 citations

Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain

Renaud Touraine, Tania Attié‐Bitach, E. Manceau et al. · The American Journal of Human Genetics · 2000 · 166 citations · Full text

Neurodegenerative Diseases, Developmental Biology, Mendelian Disorder +10

Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome

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

Developmental Anomaly, Pediatrics, Antenatal Presentation

PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism

Jeanne Amiel, Sophie Audollent, Dominique Joly et al. · European Journal of Human Genetics · 2000 · 79 citations · Full text

Pax2 Mutations, Urology, Genetic Disorder +5