S. Heuertz

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome

Elisabeth Lajeunie, S. Heuertz, Vincent El Ghouzzi et al. · European Journal of Human Genetics · 2006 · 124 citations · Full text

Developmental Anomaly, Mendelian Disorder, Scleroderma +11

The gene for incontinentia pigmenti is assigned to Xq28

A. Sefiani, Laurent Abel, S. Heuertz et al. · Genomics · 1989 · 115 citations

Genetic Disorder, Medicine, Genetics +7

The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda

Ági K. Gedeon, George E. Tiller, M. Le Merrer et al. · The American Journal of Human Genetics · 2001 · 97 citations · Full text

Genetic Disorder, Natural Sciences, Genetics +8

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation

Laurence Colleaux, Marlène Rio, S. Heuertz et al. · European Journal of Human Genetics · 2001 · 95 citations · Full text

Developmental Anomaly, Psychiatry, Idiopathic Mental Retardation +5

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia

S. Heuertz, Martine Le Merrer, Bernhard Zabel et al. · European Journal of Human Genetics · 2006 · 84 citations · Full text

Mendelian Disorder, Medicine, Genetics +10