Sophie Hellé

Exome sequencing identifies mutations in <i>LZTFL1</i>, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly

Vincent Marion, Fanny Stutzmann, Marion Gérard et al. · Journal of Medical Genetics · 2012 · 128 citations

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

Jean Muller, Corinne Stoetzel, M. C. Vincent et al. · Human Genetics · 2010 · 127 citations · Full text

Genetic Diseases, Bardet–biedl Syndrome Genes, Genetic Disorder +9

Pulmonary diffusing capacity of athletes

E. M. Mostyn, Sophie Hellé, J. Bernard L. Gee et al. · Journal of Applied Physiology · 1963 · 47 citations

Clinical Physiology, Kinesiology, Applied Physiology +18

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes

Élise Schaefer, M. Durand, Corinne Stoetzel et al. · European Journal of Medical Genetics · 2010 · 44 citations

Biology, Genetic Analysis, Allelic Variant +13

The Validity of the Telemetric System CORTEX X1 in the Ventilatory and Gas Exchange Measurement during Exercise

Henry Schulz, Sophie Hellé, H. Heck · International Journal of Sports Medicine · 1997 · 41 citations