Valère Cacheux

Loss-of-Function Mutations in a Human Gene Related to Chlamydomonas reinhardtii Dynein IC78 Result in Primary Ciliary Dyskinesia

Gaëlle Pennarun, Estelle Escudier, Catherine Chapelin et al. · The American Journal of Human Genetics · 1999 · 393 citations · Full text

Mendelian Disorder, Genetics, Pathogenesis +6

Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency

Irène Netchine, Marie‐Laure Sobrier, Heiko Krude et al. · Nature Genetics · 2000 · 366 citations

Pituitary Gland, Endocrine Disease, Human Growth +9

Human Prop‐1: cloning, mapping, genomic structure

Philippe Duquesnoy, Anne Roy, Florence Dastot et al. · FEBS Letters · 1998 · 122 citations · Full text

Human Growth, Genetics, Genomic Mechanism +23

Further delineation of the phenotype associated with heterozygous mutations in <i>ZFHX1B</i>

Meredith Wilson, David Mowat, Florence Dastot‐Le Moal et al. · American Journal of Medical Genetics Part A · 2003 · 102 citations · Full text

Genetics, Pathology, Molecular Genetics +16

Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders

Kagistia Hana Utami, Axel M. Hillmer, Irène Aksoy et al. · PLoS ONE · 2014 · 89 citations · Full text