Albert de la Chapelle

Loss-of-Function Mutations in PPARγ Associated with Human Colon Cancer

Pasha Sarraf, Elisabetta Mueller, Wendy M. Smith et al. · Molecular Cell · 1999 · 509 citations · Full text

Medicine, Genetics, Molecular Genetics +16

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

Susanna Ranta, Yonghui Zhang, Barbara Ross et al. · Nature Genetics · 1999 · 319 citations

Life Sciences, Genetics, Neuroscience +4

Missense and nonsense mutations in codon 659 ofMLH1 cause aberrant splicing of messenger RNA in HNPCC kindreds

Minna Nystr�m-Lahti, Mari Holmberg, Paulo Fidalgo et al. · Genes Chromosomes and Cancer · 1999 · 39 citations

Life Sciences, Genetics, Molecular Genetics +17

High-Resolution Mapping and Transcript Identification at the Progressive Epilepsy with Mental Retardation Locus on Chromosome 8p

Susanna Ranta, Anna‐Elina Lehesjoki, Maria de Fátima Bonaldo et al. · Genome Research · 1997 · 27 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17