Michel Goossens

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

Véronique Pingault, Nadège Bondurand, Kirsten Kuhlbrodt et al. · Nature Genetics · 1998 · 817 citations

Mendelian Disorder, Genetic Disorder, Medicine +7

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

Hepatosplenic T-cell lymphoma: sinusal/sinusoidal localization of malignant cells expressing the T-cell receptor gamma delta

JP Farcet, Philippe Gaulard, JP Marolleau et al. · Blood · 1990 · 317 citations · Full text

Molecular characterization of cystic fibrosis: 16 Novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions

Pascale Fanen, Nada Ghanem, Michel Vidaud et al. · Genomics · 1992 · 267 citations

Splice Site Junctions, Molecular Physiology, Genetic Disorder +9