Publications

2008Articles Stably Transfected Common Fragile Site Sequences Exhibit Instability at Ectopic Sites Genes Chromosomes Cancer
2005Articles Incomplete Processing of Mutant Lamin A in Hutchinson-Gilford Progeria Leads to Nuclear Abnormalities, Which Are Reversed by Farnesyltransferase Inhibition Human Molecular Genetics
2004Articles Polyalanine Expansion in HOXA13: Three New Affected Families and the Molecular Consequences in a Mouse Model Human Molecular Genetics
2003Articles Recurrent de novo Point Mutations in Lamin A Cause Hutchinson-Gilford Progeria Syndrome Nature
2003Articles Mutation of the FOXC2 Gene in Familial Distichiasis JAAPOS
2001Articles Direct Molecular Diagnosis of Multiple Endocrine Neoplasia Type 1 Methods in Molecular Medicine
2000Articles Mutations in FOXC2 (MFH-1), a Forkhead Family Transcription Factor, Are Responsible for the Hereditary Lymphedema-Distichiasis Syndrome The American Journal of Human Genetics
1998Articles The Phenotype of Ostensibly Healthy Women Who Are Carriers for Ornithine Transcarbamylase Deficiency Medicine
1996Articles Uniform Amplification of a Mixture of Deoxyribonucleic Acids With Varying GC Content Genome Research
1996Articles The Role of the Human Homologue of Drosophila Patched in Sporadic Basal Cell Carcinomas Nature Genetics