Gabrielle Mettler

Mutations in the Gene Encoding KRIT1, a Krev-1/rap1a Binding Protein, Cause Cerebral Cavernous Malformations (CCM1)

Trilochan Sahoo, Eric W. Johnson, James W. Thomas et al. · Human Molecular Genetics · 1999 · 387 citations · Full text

Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy

Catherine Tsilfidis, Alex MacKenzie, Gabrielle Mettler et al. · Nature Genetics · 1992 · 350 citations

Rare Diseases, Mendelian Disorder, Genetic Disorder +4

Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27

Holly Duncan Craig, Murat Günel, Obed M. Cepeda et al. · Human Molecular Genetics · 1998 · 349 citations · Full text

The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy.

Alasdair G. W. Hunter, Catherine Tsilfidis, Gabrielle Mettler et al. · Journal of Medical Genetics · 1992 · 214 citations · Full text

Genetics, Genetic Epidemiology, Pathology +17

Recurrence risk for sibs of children with ?sporadic? achondroplasia

Gabrielle Mettler, F. Clarke Fraser · American Journal of Medical Genetics · 2000 · 57 citations